Results 191 to 200 of about 1,790,196 (391)
Congenital Steatorrhœa with Congenital Morbus Cordis [PDF]
Proceedings of the Royal Society of Medicine, 1939 C. Hardwick, W. J. Pearson
openaire +3 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan +4 more
wiley +1 more source
Congenital leptin deficiency is associated with severe early-onset obesity in humans
Nature, 1997 C. Montague +14 more
semanticscholar +1 more source
Long‐Read Whole‐Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Synpolydactyly (SPD) is a heterogeneous distal‐limb malformation syndrome, characterized by webbing and duplication of adjacent digits. SPD1, the most common type, is attributed to disease‐causing variants in HOXD13, a transcription factor in the HOXD cluster that is essential for limb development. Here, we present a challenging exome‐negative
Jonathan Rips +9 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun +2 more
wiley +1 more source
Coronavirus disease 2019 in patients with Fontan circulation
International Journal of Cardiology Congenital Heart Disease, 2021 Flavia Fusco +10 more
doaj
THE HEART SOUNDS AND THE ARTERIAL PULSE IN CONGENITAL AORTIC STENOSIS
, 1955 J. Reinhold +2 more
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