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1.
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
Am J Hum Genet
; 105(2): 384-394, 2019 08 01.
Article
in English
| MEDLINE | ID: mdl-31256876
2.
Biallelic TERT variant leads to Hoyeraal-Hreidarsson syndrome with additional dyskeratosis congenita findings.
Am J Med Genet A
; 188(4): 1226-1232, 2022 04.
Article
in English
| MEDLINE | ID: mdl-34890115
3.
Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis.
J Am Soc Nephrol
; 32(1): 223-228, 2021 01.
Article
in English
| MEDLINE | ID: mdl-33020172
4.
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Genet Med
; 23(8): 1551-1568, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33875846
5.
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nat Commun
; 15(1): 1758, 2024 Feb 27.
Article
in English
| MEDLINE | ID: mdl-38413582
6.
Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.
Orphanet J Rare Dis
; 17(1): 179, 2022 05 03.
Article
in English
| MEDLINE | ID: mdl-35505348
7.
Immune dysregulation caused by homozygous mutations in CBLB.
J Clin Invest
; 132(20)2022 10 17.
Article
in English
| MEDLINE | ID: mdl-36006710
8.
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.
Eur J Hum Genet
; 29(1): 141-153, 2021 01.
Article
in English
| MEDLINE | ID: mdl-32860008
9.
Novel clinical and genetic insight into CXorf56-associated intellectual disability.
Eur J Hum Genet
; 28(3): 367-372, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31822863
10.
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
NPJ Genom Med
; 5: 44, 2020.
Article
in English
| MEDLINE | ID: mdl-33083013
11.
Bone dysplasias in 1.6 million births in Argentina.
Eur J Med Genet
; 62(12): 103603, 2019 Dec.
Article
in English
| MEDLINE | ID: mdl-30572171
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