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a501514008331
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15.4255340085366883
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M,141353400835468
et150053400833456
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Beck52355400833570103133
DB,6695540083458193
Ferrada7755540083336688109142181213
MA,100155400835496110
Sikora11245540083324777114135168
KA,13055540083357993
et141155400833456
al.14805540083314760
Somatic155255400833371129161183198230
mutations179555400835794117149171186224262289
in209655400831553
UBA1216255400834379120149
and232455400833270109
severe24455540083266193127149183
adult-onset2640554008332711081241461652052434255640083266183
autoinflammatory5245640083326992129144182199216248306364397418455477511
disease.10505640083385380115146173208220
N1285564008345
Engl134556400833371110125
J1485564008325
Med.152556400835489129142
2020168256400833569102136
Dec183356400834581113
31;383(27):2628-38.19625640083346573108142176194228261281293328362395429451484518532
17.4255740085366876
Sychrovská5155740083326294132153190222249279312
T,84157400833342
Stibůrková8975740083325369108146167197235267300
B,121157400833548
Pavelcová12735740083356798132148180217249282
K,156957400833549
Mann163257400835587125163
H.180957400834458
Diagnostic18815740083456092131169208234258273305
performance22005740083387495117154176234267305337371
of258557400833756
four26555740083185694115
proposed2784574008339609842558400833978106141181
algorithms6275840083324887126148164187226284311
for9595840083185779
suspected10585840083276591131167200225259299
VEXAS137858400833670111154189
syndrome.15885840083265999138160198257292305
Rheumatology191458400833574110148207239262299315354394427
(Oxford).23625840083186597119157179218238249
2025263258400833469102138
Dec279058400834682115
1;64(12):6420-1.4255940083344278115134166196214225261297330364388419428
18.4256040085366985
Lee52360400833165100
D,63660400834556
Le70560400833165
Pen78260400833569106
J,90160400832436
Yatim9506040083356486101158
A,112160400834155
et118960400833355
al.12576040083324760
Inborn13296040083155392130152190
errors15326040083345576113135162
of170660400833757
OAS-RNase177560400834787120143180225257283318
L2106604008331
in215060400831452
SARS-CoV-2-related221560400833273108142164207243278299329349371405420452474507547
multisystem277460400835895110425614008322376396123146179237
inflammatory678614008314527087119177235267289326347381
syndrome10756140083265897136157194253288
in137861400831553
children.1446614008331698499138159194232245
Science.17066140083336580115153185219231
2023195261400833468101136
Feb210361400833367106
10;379(6632):eabo3627.22246140083346679114146179198232267301334352363398430469508541576609642648
19.4256240085366982
Henderson52762400834479117156191212240278316
LA,8646240083317488
Abraham97362400834080102135173205263
RS,12566240083356982
Ahmed135862400834179137172212
A,159062400834155
et166562400833456
al.17426240083314760
Multidisciplinary182262400835492108130145184199225258273312328343381413434468
approach231062400833271111132170203235273
to260362400832259
treating26826240083214377109131146184223
complex42563400833168125164180215246
immune68363400831572130167205239
dysregulation9356340083386996117151190227242274296311348387
disorders:13346340083385379117138176211232259271
an161863400833169
adaptive170063400833170102141163178210244
model195663400835896135169185
for21536340083195677
institutional22436340083155278101116138176198213251289321336
implementation.259263400831572111126161218253291425644008322547691129168181
Front6216440083335290128150
Immunol.78664400831573130168206244260273
2025107564400833468101136
Mar122664400835487108
7;16:1519955.13496440083344474106118148178209239274308341353
20.4256540085367287
Yazdanpanah5256540083356494132164202241274311343381
N,91965400834557
Rezaei98965400833670100133168183
N.118565400834457
The125565400833372107
multidisciplinary137465400835895110133148186201227259274313329344382414435469
approach185565400833271110132169202234272
to213965400832259
diagnosing22116540083385384123161199226240278317
inborn25416540083145291130151190
errors27436540083345577114136163
of42566400833756
immunity:49466400831572130167205220243276290
a797664008331
comprehensive84166400833168126165187221259293331358372405439
review12936640083205486102137188
of149366400833857
discipline-based15636640083385379111126165181195233268291331364390425464
manifestations.204066400835890128143162196223246279300315353392418431
Expert248466400833365104140161186
Rev268266400833670103
Clin27976640083405570108
Immunol.42567400831573130168206244260273
202471367400833569102133
Oct;20(10):1237-59.86267400834779104117152186205237268287299329358393425444478510521
21.4256840085367082
Informace5266840083155372109131189222254288
k832684008330
projektu8816840083396097113148178202240
SYPOVO114068400833369105153189236
[Internet].1395684008318347293127148187222244262274
Ministerstvo168868400835469107122149172205227254277312349
zdravotnictví20566840083286688121152190212250265297321355371
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republiky.26306840083205493132171187202232266276
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Jan9266940083245795
13].1042694008335658395
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from:14416940083194179138151
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stavu11037140083264880111149
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České11567240083407399128162
republiky.13307240083205492130168184198228261271
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Jan20697240083245693
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from:25427240083184077134146
https://27007240083375882121147159185205
mzd.gov.cz/wp-content/uploads/2024/08/Analyticka-zprava_OBECNA-cast_SYPOVO-1.pdf42573400835684121134171208239248279308335385423445478513551571604641661688722760775812844881907931965998103010601084111711511175121112481279129413241348136313931422145514761502154015611592162316541691173717721804184318861926194719792011203620582094212821632198224422782324234723762385242424622480
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country157374400833168106143165186220
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Joint23127440083246378116137
Action.24627440083417296112150188201
JARDIN-267674400832464100146162207229
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from:14997540083183975132144
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M,331214400835468
Soomann339514400833371110168200238276
M,368614400835568
Soler-Palacín37701440083327086121142162199231246279311326364
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from:33991640083184078136148
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Klocperk31511740083355290122162197218249
A,341717400834155
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M,381717400835467
Schneiderová390217400833264102140175191229264286323355388
H,430717400834457
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Czech414618400833970104137175
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2024484318400833468101133
Jan49911840083245694
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26.30471940085367187
Strand31471940083325475108146185
J,334519400832436
Gul33941940083448297
KA,35041940083357993
Erichsen36101940083335470102139166201239
HC,38621940083448598
et397319400833456
al.40421940083324760
Second-Tier411519400833267100137175214237267284318339
Next446719400834580112136
Generation461619400834479117152173206228243281320
Sequencing494919400833267107144179217249264302341
Integrated5303194008315537510814816920230472040083225595
in316020400831553
Nationwide32312040083457799114152191241257295330
Newborn358020400834479130170209230269
Screening38672040083336586120156194209247286
Provides41712040083355693125141180215242
Rapid443120400833568107123161
Molecular461120400835493108143176214229261282
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2020438221400833468101135
Jul45332140083246277
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27.30472240085367180
Blom31412240083355189147
M,330222400835568
Duintjer33842240083468499137158174209230
AJ,36282240083416880
Pico-Knijnenburg37222240083354981118142178218233248286321359398436457495
I,423122400831528
et427322400833456
al.43432240083324760
Next-generation441722400834580111136155196231269304325358380395433471
sequencing490222400832661101139173212244259297336
and525222400833169109
other53742240083386098133154
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tier3277234008321377193
tests33902340083225683106134
in354423400831553
newborn361823400833772124164203224263
screening39022340083265879114149187203241280
for42022340083195778
(X-linked)4301234008318587894109147178212252271
agammaglobulinemia.459323400833271103161219252291306345384423438453491526584600632645
J5259234008324
Clin53032340083405671109
Immunol.543223400831573304724400835795133171187200
2025326224400833569102136
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Thakar315325400833372104134168189
MS,336025400835487100
Logan347725400833269109141179
BR,36742540083357185
Puck377725400833572104134
JM,39292540083247992
et403925400833456
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the45072540083226095
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newborn487525400833873124163202224262
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cell3884264008331658196
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immunodeficiency:50322640083157213016820624428431833635338540043547330472740083316477
a3137274008332
36-year31812740083346891123157188209
longitudinal34032740083145290129144166203242257294326341
study37572740083264986125156
from39262740083184077135
the40732740083225994
Primary41802740083355570127159180214
Immune440727400831471129166203238
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Treatment49682740083324983114136193228265287
Consortium.526727400834077115141178200224239304728400833795108
Lancet.317128400833164102135168191204
2023339028400833468101136
Jul35412840083256278
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Booth314629400833574112134172
C,333129400834053
Masiuk339729400835587114128166196
K,360629400833549
Vazouras36682940083366797134172193226253
K,393429400833549
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of499029400833757
gene506029400833872111146
therapy52192940083215994115148187219
for54512940083185677
adenosine304730400833271106144182209224262297
deaminase335930400833873105163178216248274309
deficiency.36843040083387390107139154189227259293303
N4002304008345
Engl406230400833371110125
J4202304008324
Med.424230400835489129142
2025439930400833468101136
Oct455130400834779103
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30.30473140085357186
Vladyka31453140083355183121152182215
O,337231400834757
Simonová344231400833246102140178215246279
AK,37333140083407589
Orlický3834314008347688398129158192
M,403831400835467
et411731400833355
al.41843140083324659
Advances425531400834178110142179211244270
in453731400831552
the46013140083215993
management470631400835789126157196230287321358379
of509731400833756
patients51653140083387192107141178199226
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of327632400833857
thymic33513240083226091150165197
development.356632400833873105140155193233291326364386399
Alergie39843240083415691112150165200
[Internet].4203324008318347293127148187222244262274
2025;2025(4).449532400833468101136147182216249284301334352363
Available487632400834172104120135167206222257
from:51513240083194178136149
https://53183240083385983123150162189209
www.tigis.cz/images/stories/Alergie/Alergie_2025/Alergie_4_2025/Alergie_4_2025_Vladyka_prehledny.pdf3047334008350103156167189204242257283297328359386402460492530565592617641664701722738772799824861877911932970985101910451082109811321153119112061240127613131347137914141437147414901524154515831598163316681703174017761810184218771901193819531987200820462061209621322167220322392273230523402376241024262458304734400833870101134172213234268307322357396434465475515554574
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Kreins31473540083355791107144171
AY,33363540083417280
Dhalla343535400834584116131146179
F,363235400833238
Flinn36883540083334762100138
AM,384435400834197110
et397335400833456
al.40473540083324760
European41263540083326990127167202234272
Society441635400833371104119154176210
for46443540083185678
Immunodeficiencies474035400831572130168206244284319336353385400435473505520555582
guidelines5340354008338769113016530473640083153068103130
for31963640083185677
the32923640083226095
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of381236400833756
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congenital428336400833168107146181219234256289304
athymia.46073640083315391122181196228241
J4867364008324
Allergy49103640083415772107128166198
Clin51273640083405570108
Immunol.525436400831573131168206245261274
2024304737400833468101133
Dec319537400834681114
18;154(6):1391-408.33243740083346577107138173192225243255285315348380399436472507521
32.30473840085367186
Golwala31543840083448298149182198230
ZM,340438400833893106
Goncalves353138400834382121153186201233268295
HS,38463840083447689
Moirangthem395538400835593108130163201240262300335393
RD,43693840083358192
et448138400833457
al.45583840083324760
Ex463838400833365
vivo47243840083314780117
T-lymphopoiesis4861384008333516899158197236274314352368403429444470
assays53523840083315884118148175
assisting3047394008332588499125148163200239
corrective32993940083316889111144177201216248282
treatment35943940083214376108129187222260281
choice388839400833169107122154187
for40883940083185577
genetically417739400833873111145167183214247262277308
undefined449839400833775114148166183220255294
T-lymphocytopaenia.4805394008332506698156195233271304337362398437470505543558589602
Clin54203940083405570107
Immunol.304740400831573130168206244260273
2025333540400833569102136
Feb348740400833266105
16;274(110453):110453.36084040083346577112145176195227254286322355388405417447475506542575608621
33.30474140085367186
Bosticardo315341400833574101124139171204225263301
M,347441400835568
Pala35624140083356782114
F,369641400833339
Calzoni37554140083397288117154192207
E,398241400833346
et404841400833456
al.41244140083324760
Artificial42044140083416287102120137169184216231
thymic44554140083226091149165196
organoids46714140083385997130168206221260286
represent49774140083215594116150177212250271
a5268414008332
reliable5320414008321557085117156172207
tool30474240083225997113
to317542400832158
study32484240083264987126158
T-cell34204240083335185119134149
differentiation3584424008338537392126147181219241256288310325363402
in400042400831553
patients40674240083397293109143181203231
with43124240083516689127
severe44534240083266194128149183
T-cell46514240083325184118134149
lymphopenia.481442400831547105144183221261296334350382395
Blood52234240083365189128168
Adv.540542400834179112122
2020304743400833468101135
Jun319843400832462100
23;4(12):2611-6.33134340083346980115134166196214226261295325353371408422
34.30474440085367388
Blom31524440083355189147
M,331644400835468
Duintjer34004440083458499137158174208230
AJ,36464440083416880
Jamee374344400832456114149184
M,394344400835568
de402844400833873
Gier41174440083445994115
M,424944400835467
Bloomfield43334440083355189128186204221255271310
M,465944400835568
Klocperk47434440083355290123162198219249
A,500944400834155
et508044400833457
al.51534440083324760
Self-reported5229444008333688410312314517921925727930474540083225595
clinical3159454008331466199114146179194
outcomes33704540083377598129166224259286
and367245400833270109
quality379845400833876108123138161194
of400945400833757
life4082454008315304984
in418345400831452
agammaglobulinemia:425245400833271103161219251290305343383421437452489524582597629642
The491045400833372107
importance503445400831572111150172196229267299333
of538445400833756
an545745400833270
early30474640083346687103135
diagnosis.31974640083385385124162200227242268282
J3494464008324
Clin35344640083395570107
Immunol.365746400831572130168206244260273
2025394546400833468101136
Aug409746400834178117
25;45(1):125.42294640083346980114147165197211223253283317329
35.30474740085367186
Messelink315147400835490116143178194209246277
MA,344647400835597111
Berbers35754740083367192132167189216
RM,380947400833691105
van393247400833265103
Montfrans405347400835593132153174197230268294
JM,43664740083247992
et447747400833456
al.45524740083314760
Development463047400834681113148163201241299334372394
of504247400833857
a5118474008331
primary51684740083396076134166187221
care54084740083316485119
screening30474840083265880114149187202240279
algorithm33414840083324786124146162184222280
for36364840083185677
the37284840083226095
early38384840083346687103134
detection39874840083387395129162186201239278
of428048400833756
patients43514840083397293109143181203231
at459748400833153
risk4665484008321366292
of477248400833757
primary48434840083396176134166187221
antibody50794840083327092107146185224256
deficiency.53504840083387391108140155304749400833472104138148
Allergy32104940083415672106128166198
Asthma34234940083416992130188220
Clin36594940083405570108
Immunol.378249400831573130168206244260273
2023407149400833468101135
May422249400835487118
27;19(1):44.43554940083346777107137156188202214249286298
36.30475040085367288
Johnson315350400832462101139165204242
R,341350400833650
Stephens34815040083325387126165200238264
AV,37635040083417584
Mester386550400835489116139173194
R,407750400833650
et414550400833456
al.42195040083324860
Electronic42985040083324782115139160198236251283
health459950400833873105120143181
record47985040083215587124146184
signatures50005040083264180118150172210231265292
identify53105040083155489127148164183217
undiagnosed304751400833775114129161200238277303338378
patients34385140083397293109143182203231
with36825140083506688127
common382251400833168126184222261
variable40965140083316486101133172188223
immunodeficiency433251400831573130168206244284319336353385400435473505539
disease.48845140083385379114146173208220
Sci51175140083326580
Transl52105140083325083121147162
Med.538551400835590129143
2024304752400833468101133
May;16(745):eade4510.319552400835587118131161193212246277309328340374406445480516549580612624
37.30475340085367180
Rider31485340083355190125147
NL,33155340083457791
Coffey34275340083407797116150182
M,363053400835468
Kurian37195340083357293109141180
A,391953400834155
et399553400833457
al.40725340083324861
A4153534008341
validated4215534008332658095135167189223263
artificial4498534008332537894112129161176208224
intelligence-based47425340083155375109125140155194229267300333357397430457492532
pipeline52945340083395594130146161199234
for30475440083185678
population-wide313954400833978117156171203225240278317339391406445480
primary36345440083386076133166187221
immunodeficiency386954400831573131168206245284319337354386401435474506539
screening.44235440083265879113149187202240279292
J4730544008324
Allergy47695440083405671106127165197
Clin49815440083405570108
Immunol.510454400831472130168206244260273
2023539154400833569102136
Jan;151(1):272-9.30475540083245694106136166197212244258270306339373393428439
38.30475640085367288
Rivière3154564008335518399134155189
JG,33625640083246982
Carot-Sans34635640083407394131153173204237275301
G,378356400834457
Piera-Jiménez38595640083355084105138161182197255290328363393
J,427056400832537
de432556400833973
la441756400831547
Torre44835640083336788110144
S,464656400833245
PIDCAP47105640083354995136179215
expert494456400833365105140161186
group,51495640083385996134173185
Cos535356400834077104
X,547556400833952
et304757400833456
al.31185740083324760
Development319357400834581113147163201241299334372393
of360157400833857
an367357400833169
expert-based375757400833466105141162187206246279306341381
scoring41525740083265996117133171210
system43775740083265885108142200
for45925740083185677
early46845740083346687103135
identification48345740083145388126148163181198230263284300338376
of522557400833756
patients52965740083397294109144182203231
with30475840083516689127
inborn31915840083155292130152191
errors33995840083345577114136163
of357958400833757
immunity365358400831472130167205221243277
in394758400831552
primary40175840083386075133165187221
care42555840083316485119
settings43915840083266184108123161200226
–4634584008335
the46875840083215994
PIDCAP47995840083354995136179215
project.50315840083386097113148180204218
J5266584008324
Clin53075840083405570108
Immunol.543258400831573304759400835795133171187200
2024326259400833569102133
Oct341159400834779103
21;45(1):26.35305940083346574108141159190205217252286299
39.30476040085367185
Soler-Palacín31486040083327187122143162199231247279311326364
P,352860400833640
Rivière3585604008335508399133155189
JG,37906040083246982
Burns38896040083357394133159
SO,40646040083338092
Rider41726040083355190125146
NL.43346040083457791
New444160400834580131
tools45886040083225997113139
for47446040083185677
diagnosis48386040083385385124162200227242268
of512260400833857
primary51956040083396076134166187221
immunodeficiencies:543360400831472304761400835997137176217253271289322338374413446462498526539
from36076140083194280140
awareness376961400833285118140176215251279307
to409761400832260
artificial4179614008332548096114132165181214230
intelligence.44306140083155477111128144159199235275308343356
Front48076140083335492132154
Immunol.498361400831574134173212251268282
2025528661400833570104140
Jul54486140083246379
10;16(1593897):1593897.30476240083346678109140159190220253286320354387407419448478511543578612645651
40.30476340085367489
Rider31496340083355190124146
NL,33086340083447690
Li341163400833147
Y,347163400833543
Chin35276340083407893130
AT,36716340083406978
et376263400833456
al.38316340083324760
Evaluating39046340083336598113150183204220257296
large42136340083154769107141
language43676340083154785124162194233268
model464863400835796135170186
performance48476340083387495116154175234266304336370
to523063400832258
support530163400832664103142181203227
the30476440083226094
diagnosis31546440083385385124162200226241267
and343464400833169108
management355564400835789127159198233290325363385
of395264400833857
patients40226440083387192108142180201229
with42646440083506688126
primary44036440083386075133165186220
immune463664400831472129167204239
disorders.48886440083385379117139176211232259273
J5174644008324
Allergy52116440083405671105126164196
Clin54206440083405570107
Immunol.304765400831573130168206244260273
2025333565400833569102136
Jul;156(1):81-7.3487654008324627789119149183202234248260295327346377383
41.30476640085366981
Martin-Geary314966400835587109133149187210256292324345380
AC,35496640083418194
Lecoquierre36636640083326699136176214229264285307341
F,402566400833339
Walker408466400835889105135169191
S,429566400833346
et436166400833457
al.44386640083324861
Using45196640083447085123162
SpliceAI47026640083337288103135169211226
to494966400832159
triage5028664008322435991131166
splice-altering521466400832666829712916318621823425729030476740083213674114
variants31816740083326586102134172194222
in342367400831553
7,22034976740083343976110145
individuals36626740083155392107140156195233265281307
with39896740083516789127
rare41376740083215475109
conditions426767400833168107146161184199237276302
highlights45906740083385392130145160199237259287
limitations48976740083153088104126159181196234273299
of521767400833757
the52946740083226095
precomputed54106740083396095304768400833169128167206228263302
scores33706840083265996118153180
[Internet].3570684008319357395129151190225248265278
medRxiv.386868400835893133170203218251261
2025.415068400833569102137150
Available432068400834172106121136169208225260
from:46016840083184078137149
http://dx.doi.org/10.1101/247716840083385984124136164184220252266305344359373411433471498531563576607635667699721756
025.304769400833467102114
08.31766940083347083
27.25334471.32756940083346773109144177210245282314347356
42.30477040085367086
Ameratunga315370400834199134155188210248286325357
R,353070400833549
Leung359870400833266104142181
EY,37987040083337078
Longhurst389570400833269107146184222243270293
HJ,42087040083446981
et430970400833356
al.43847040083324760
Opinion:446470400834786102140155193231243
the47277040083226095
evolving484170400833466104120152168206245
understanding510570400833775115149171198221254292331346384423
of304771400833757
polygenic31247140083397894125164199237252284
common342971400833168126184222261
variable37107140083326586102134173189224
immunodeficiency-like395471400831573131168207245284319337354386401436474506540562578593623658
disorders.46327140083385379118139178213234261275
Front49277140083335290128150
Immunol.509771400831573131168206245261274
2025539171400833468101136
Aug304772400834178117
28;16(1618482):1618482.31797240083346880110142161192223254285321357391409420450481512543579615649661
Další46037420011061108131169193
literatura481474200110244779125158204236287320366
u51997420011051
autora5269742001104597129179212258
a41207520011046
na4184752001105298
www.casopisvnitrnilekarstvi.cz430175200110671372082272673143524034574805185656186416737057587818048528989459781016104910971121114311841226