Results 171 to 180 of about 2,214,382 (367)

Congenital abnormalities. [PDF]

BMJ, 1985
openaire   +2 more sources

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Association of neural tube defects with congenital abnormalities of the urogenital system in a Chinese cohort. [PDF]

BMC Pediatr, 2021
Hong ZH, Jin DH, Yuan XJ, Zhao Y, Lin HW, Chen J.   +5 more
europepmc   +1 more source

POST-OPERATIVE HAeMORRHAGE AND RELATED ABNORMALITIES OF BLOOD COAGULATION IN CYANOTIC CONGENITAL HEART DISEASE [PDF]

, 1965
J. Somerville, L McDonald, Marion Edgill
openalex   +1 more source

Motor Abnormalities and Epilepsy in Infants and Children With Evidence of Congenital Zika Virus Infection

Pediatrics, 2018
A. Pessoa, V. van der Linden, M. Yeargin-Allsopp, M. D. Carvalho, E. Ribeiro, K. Van Naarden Braun, M. Durkin, Daniel M. Pastula, Jazmyn T Moore, C. Moore   +9 more
semanticscholar   +1 more source

Pulmonary Arterial Hypertension Onset in an Adult Woman With a TBX4 Likely Pathogenic Variant Following Imatinib Administration: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The TBX4 gene has a critical importance in the development of the lower limbs and lungs. Pathogenic variants in this gene are associated with a variable spectrum of skeletal anomalies of the lower limb and pneumological manifestations, with dominant or recessive inheritance.
Simone Carbonera, Laura Scelsi, Alessandra Greco, Sandra Schirinzi, Annalisa Turco, Antonella Casella, Marta Carboni, Gaia Visani, Mauro Acquaro, Stefano Ghio, Silvia Kalantari, Enza Maria Valente, Fabio Sirchia   +12 more
wiley   +1 more source

Congenital abnormalities associated with Zika virus infection-Dengue as potential co-factor? A systematic review. [PDF]

PLoS Negl Trop Dis, 2021
Petzold S, Agbaria N, Deckert A, Dambach P, Winkler V, Drexler JF, Horstick O, Jaenisch T.   +7 more
europepmc   +1 more source

Anencephaly and Other Congenital Abnormalities [PDF]

, 1960
M. J. Pleydell
openalex   +1 more source

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders [PDF]

, 2017
Andrews, Marisa V, et al,, Grange, Dorothy K   +2 more
core   +2 more sources

Congenital Abnormalities [PDF]

Proceedings of the Royal Society of Medicine, 1924
openaire   +2 more sources