Results 151 to 160 of about 14,863 (260)

Clinico-Radiologic Perspective of a Case of Hemifacial Microsomia [PDF]

Journal of Clinical and Diagnostic Research, 2016
Mandakini Subhash Mandale, Jyoti Dilip Bhavthankar, Jayanti Govind Humbe, Pritam Kumar Mankapure   +3 more
doaj   +1 more source

Congenital abnormalities of platelet membrane glycoproteins

Journal of Associated Medical Sciences, 2010
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Preeyanat Vongchan
doaj  

B. Hallgren: Retinitis Pigmentosa combined with congenital deafness; with vestibulocerebellar ataxia and mental Abnormality in a Proportion of cases: a Clinical and Genetico-Statistical Study, geh., 97 S., ohne Preis. Ejnar Munksgaard, Kopenhagen, 1959. [PDF]

, 1960
Grebe
openalex   +1 more source

Cancer, chromosomes and congenital abnormalities [PDF]

, 1967
Kenneth W. Dumars, Nancy J. Kitzmiller, Catherine Gaskill   +2 more
openalex   +1 more source

Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent‐Centered Website: Parental and Professional Views

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The scarcity of clinical information surrounding rare chromosome disorders poses challenges for parents and clinicians. To bridge this gap for chromosome 6 disorders, the Chromosome 6 Project collects detailed genotype and phenotype data, aiming to provide aberration‐specific phenotype information to parents via an interactive website.
Eleana Rraku, Aafke Engwerda, Tyler D. Medina, Morris A. Swertz, Lennart F. Johansson, Conny M. A. van Ravenswaaij‐Arts, Imke Christiaans   +6 more
wiley   +1 more source

Congenital Abnormalities in the African Newborn [PDF]

, 1961
M. J. Simpkiss, Alexander J. Lowe
openalex   +1 more source

Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2‐Related Disorders to a Syndromic Multiple Tumor Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SETD2 has an essential role in epigenetic regulation. SETD2 pathogenic variants cause neurodevelopmental disorders (SETD2‐NDDs) that most commonly include various degrees of intellectual disability and behavioral disorders, macrocephaly, brain malformations, and generalized overgrowth.
Marie Lucain, Antonio Vitobello, Bekim Sadikovic, Juliette Albuisson, Léa Gaudillat, Martin Chevarin, Julien Maraval, Christel Thauvin‐Robinet, Jennifer Kerkhof, Christophe Philippe, Sophie Nambot, Laurence Faivre   +11 more
wiley   +1 more source

Treatment of the Mirror Foot with Central Ray Resection: Report of 2 Cases

Iranian Journal of Medical Sciences, 2018
The mirror foot is a rare congenital foot anomaly which is often associated with 6- to 8-toed polydactyly. Postaxial polydactyly is the most common form of this anomaly, while central polydactyly is seen infrequently.
Gholam Hossain Shahcheraghi, Mahzad Javid   +1 more
doaj  

A Transfer Learning Causal Approach to Evaluate Racial/Ethnic and Geographic Variation in Outcomes Following Congenital Heart Surgery [PDF]

arXiv
Congenital heart defects (CHD) are the most prevalent birth defects in the United States and surgical outcomes vary considerably across the country. The outcomes of treatment for CHD differ for specific patient subgroups, with non-Hispanic Black and Hispanic populations experiencing higher rates of mortality and morbidity.
arxiv  

Neonatally Lethal Fanconi Anemia due to an Amish Founder FANCE Gene Variant; Evidence for Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prenatal and neonatal presentations of multiple congenital anomalies are difficult to diagnose and are associated with an increased risk of lethality. The differential diagnosis of antenatal presentations of radial ray malformations includes Fanconi anemia (FA), an inherited bone marrow failure disorder associated with congenital anomalies in ...
Ethan M. Scott, Olivia K. Wenger, Matthew Adams, Emma L. Baple, Andew Crosby, Joseph Leslie   +5 more
wiley   +1 more source