Results 241 to 250 of about 1,639,589 (408)

A novel GJA3 mutation causing autosomal dominant congenital perinuclear cataracts. [PDF]

BMC Ophthalmol
Zhu Y, Li N, Yao K, Wang W, Li J.
europepmc   +1 more source

Pediatric Autosomal Dominant Osteoporosis [PDF]

, 2023
Juels, Michaela, Katsman, Alina
core  

Ocular manifestations in autosomal dominant retinitis pigmentosa with a Lys-296-Glu rhodopsin mutation at the retinal binding site. [PDF]

, 1994
Sarah L. Owens, Fred W. Fitzke, C.F. Inglehearn, M Jay, T J Keen, G. B. Arden, Shoumo Bhattacharya, Alan C. Bird   +7 more
openalex   +1 more source

Prenatal diagnosis and clinical pregnancy outcome of fetuses with conotruncal defects in a Chinese cohort

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective This study aimed to explore genetic etiologies of conotruncal defects (CTDs) in fetuses by analyzing the results of different genetic tests and to assess pregnancy outcomes of fetuses with CTD in a Chinese prenatal cohort. Methods A total of 146 fetuses that underwent invasive prenatal genetic testing for CTD at the prenatal ...
Min Li, Yi Wu, Yiyao Chen, Hui Wang, Weiwei Cheng, Baoying Ye   +5 more
wiley   +1 more source

Autosomal dominant polycystic kidney disease: an overview of recent genetic and clinical advances. [PDF]

Ren Fail
Borghol AH, Bou Antoun MT, Hanna C, Salih M, Rahbari-Oskoui FF, Chebib FT.   +5 more
europepmc   +1 more source

Exclusion of autosomal dominant polycystic kidney disease type II (ADPKD2) from 160 cM of chromosome 1. [PDF]

, 1990
Sushil Kumar, William J. Kimberling, Patricia A. Gabow, Yin Yao Shugart, Sandra Pieke-Dahl   +4 more
openalex   +1 more source

Gynecological surgery in patients with kidney failure on chronic kidney replacement therapy: A binational data linkage study of morbidity and mortality outcomes

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective This study evaluates postoperative outcomes of patients with kidney failure on chronic kidney replacement therapy after gynecological surgery. Methods This binational data‐linkage study identified patients with kidney failure via the Australia and New Zealand Dialysis and Transplant Registry who underwent major gynecological ...
Mina Khair, Dharmenaan Palamuthusingam, Carmel M. Hawley, Elaine M. Pascoe, Usama Shahid, David W. Johnson, Magid Fahim   +6 more
wiley   +1 more source

Retinoblastoma Plus Lipomatosis: An Autosomal Dominant Syndrome

Archives of Plastic Surgery, 2014
Stefania Tenna, Mauro Barone, Pierluigi Gigliofiorito, Paolo Persichetti   +3 more
doaj   +1 more source

Cardiac manifestations of autosomal dominant polycystic kidney disease. [PDF]

Eur Heart J Imaging Methods Pract
Dugar F, Pradella M, Kessel-Schaefer A, Kettnaker P, Haaf P.   +4 more
europepmc   +1 more source

Calcified Renal Stones and Cyst Calcifications in Autosomal Dominant Polycystic Kidney Disease: Clinical and CT Study in 84 Patients [PDF]

, 1992

openalex   +1 more source