Search details
1.
Whole-genome sequencing of patients with rare diseases in a national health system.
Nature
; 583(7814): 96-102, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32581362
2.
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Brain
; 146(6): 2285-2297, 2023 06 01.
Article
in English
| MEDLINE | ID: mdl-36477332
3.
Prevalence of CFTR variants in primary immunodeficiency patients with bronchiectasis is an important modifying cofactor.
J Allergy Clin Immunol
; 152(1): 257-265, 2023 07.
Article
in English
| MEDLINE | ID: mdl-36828084
4.
ADA2 deficiency complicated by EBV-driven lymphoproliferative disease.
Clin Immunol
; 215: 108443, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32353633
5.
Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutations.
Sci Immunol
; 7(74): eabn3800, 2022 08 12.
Article
in English
| MEDLINE | ID: mdl-35960817
6.
Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.
Eur J Hum Genet
; 23(12): 1744-8, 2015 Dec.
Article
in English
| MEDLINE | ID: mdl-26264437
7.
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
Nat Genet
; 46(8): 812-814, 2014 Aug.
Article
in English
| MEDLINE | ID: mdl-25038750
8.
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.
Nat Genet
; 46(1): 61-64, 2014 Jan.
Article
in English
| MEDLINE | ID: mdl-24212882
9.
GATA6 haploinsufficiency causes pancreatic agenesis in humans.
Nat Genet
; 44(1): 20-22, 2011 Dec 11.
Article
in English
| MEDLINE | ID: mdl-22158542
Results
1 -
9
de 9
1
Next >
>>