Search details
1.
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
Am J Hum Genet
; 110(11): 1919-1937, 2023 11 02.
Article
in English
| MEDLINE | ID: mdl-37827158
2.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Am J Hum Genet
; 111(5): 996, 2024 May 02.
Article
in English
| MEDLINE | ID: mdl-38701747
3.
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.
Genet Med
; 24(2): 384-397, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34906446
4.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Am J Hum Genet
; 103(2): 221-231, 2018 08 02.
Article
in English
| MEDLINE | ID: mdl-30057030
5.
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
Am J Hum Genet
; 100(2): 281-296, 2017 02 02.
Article
in English
| MEDLINE | ID: mdl-28132690
6.
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children.
J Med Genet
; 55(11): 721-728, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30049826
7.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Am J Hum Genet
; 103(3): 456, 2018 09 06.
Article
in English
| MEDLINE | ID: mdl-30193137
8.
Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation.
Ophthalmology
; 121(2): 580-7, 2014 Feb.
Article
in English
| MEDLINE | ID: mdl-24199935
9.
Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism.
Eur J Hum Genet
; 32(1): 125-129, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-37926713
10.
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
J Med Genet
; 49(1): 27-36, 2012 Jan.
Article
in English
| MEDLINE | ID: mdl-22135276
11.
Complex Patterns of Genomic Heterogeneity Identified in 42 Tumor Samples and ctDNA of a Pulmonary Atypical Carcinoid Patient.
Cancer Res Commun
; 3(1): 31-42, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36968225
12.
ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency.
J Clin Endocrinol Metab
; 107(1): e254-e263, 2022 01 01.
Article
in English
| MEDLINE | ID: mdl-34402903
13.
A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia.
J Clin Invest
; 131(24)2021 12 15.
Article
in English
| MEDLINE | ID: mdl-34730112
14.
Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis.
J Clin Endocrinol Metab
; 104(12): 5737-5750, 2019 12 01.
Article
in English
| MEDLINE | ID: mdl-31504653
15.
An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes.
Orphanet J Rare Dis
; 12(1): 24, 2017 02 07.
Article
in English
| MEDLINE | ID: mdl-28173822
16.
STAG3 truncating variant as the cause of primary ovarian insufficiency.
Eur J Hum Genet
; 24(1): 135-8, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26059840
17.
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing.
Orphanet J Rare Dis
; 8: 122, 2013 Aug 08.
Article
in English
| MEDLINE | ID: mdl-23924366
Results
1 -
17
de 17
1
Next >
>>