Results 211 to 220 of about 1,899,712 (390)

Effect of gene therapy on visual function in Leber's congenital amaurosis.

New England Journal of Medicine, 2008
J. Bainbridge, Alexander J. Smith, Susie S Barker, S. Robbie, R. Henderson, K. Balaggan, A. Viswanathan, G. Holder, A. Stockman, N. Tyler, S. Petersen-Jones, S. Bhattacharya, A. Thrasher, F. Fitzke, B. Carter, G. Rubin, A. Moore, R. Ali   +17 more
semanticscholar   +1 more source

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

Congenital hearing loss

Nature Reviews Disease Primers, 2017
A. Korver, Richard J. H. Smith, G. Camp, M. Schleiss, M. Bitner-Glindzicz, L. Lustig, S. Usami, A. Boudewyns   +7 more
semanticscholar   +2 more sources

CONGENITAL ATRESIA OF THE BILE DUCTS

, 1937
Edward J. Donovan
openalex   +2 more sources

A Case of Congenital Pulmonary Stenosis, with Special Consideration of the Nature of the Secondary Blood Changes [PDF]

, 1911
F. Parkes Weber, G Dörner
openalex   +1 more source

Genetics and Genomics of Congenital Heart Disease.

Circulation Research, 2017
Samir Zaidi, M. Brueckner
semanticscholar   +1 more source

A Collaborative Approach to Pediatric Genetic Evaluation in the Era of Genomic Medicine

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To address the increased demand for genetic services and shortage of medical geneticists (MG), a collaborative pilot program was developed with a two‐part approach to care: (1) Initial genetic counselor (GC) appointment with exome sequencing (ES) and (2) follow‐up MG evaluation.
Sarah Jurgensmeyer Langas, Allison Goetsch Weisman, Valerie Allegretti, Katherine Kim, Roxanne Birriel, Carlos E. Prada   +5 more
wiley   +1 more source

Congenital spinal deformities of surgical importance [PDF]

, 1956
Thomas N. Cowie
openalex   +1 more source

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

Two congenital intestinal bands, a rare cause of intestinal obstruction in a young adult, a case report. [PDF]

Radiol Case Rep
Endris SF, Beyene BG, Wadaja DF, Abera MT.   +3 more
europepmc   +1 more source