Results 141 to 150 of about 869,874 (249)

Congenital Cleft Earlobe: Classification and Surgical Techniques with a Scoping Review of the Literature. [PDF]

J Clin Med
Jun YJ, Park YJ, Kim MR, Baek MJ, Kim SH.   +4 more
europepmc   +1 more source

Giant Choledochal Cyst in a Child With Spinocerebellar Ataxia: A Potential Molecular Link Through Aberrant Cytosolic Calcium Signaling

American Journal of Medical Genetics Part A, EarlyView.
Hiromi Sumitomo, Tomoyuki Akiyama, Tadashi Kaname, Toshiki Takenouchi   +3 more
wiley   +1 more source

Brugada Syndrome: New Implications for Heterozygous Carriers of the Pathogenic SCN5A c.689T>C(p.Ile230Thr) Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in the SCN5A gene and its subunits have been identified in individuals with Brugada Syndrome. One such SCN5A variant, c.689T>C(p.Ile230Thr), was previously reported as disease‐causing only in homozygous individuals, with heterozygous carriers being unaffected.
Shayla Shojaat, Benjamin Hale, Taylor Warner   +2 more
wiley   +1 more source

A fetal autopsy study on congenital malformations among stillbirths in a tertiary care hospital. [PDF]

Sci Rep
D N, N S, S P V, Patel M C S, R A S, G V M.   +5 more
europepmc   +1 more source

Congenital glaucoma [PDF]

, 2020
INSERM
openalex   +1 more source

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Complex case of congenital pulmonary sequestration with successful "EXIT" procedure. [PDF]

J Surg Case Rep
Bernatavičienė R, Pikturnaitė G, Verkauskas G, Strumila A.   +3 more
europepmc   +1 more source

Congenital Obliteration of the Bile-ducts [PDF]

, 1918
W. E. Carnegie Dickson
openalex   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Specimens from a Case of Congenital Atresia of the Bile-Ducts [PDF]

, 1930
Michael Albury, Donald Paterson
openalex   +1 more source