Results 171 to 180 of about 1,899,712 (390)

A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up

Orphanet Journal of Rare Diseases
Background There is a notable lack of harmonisation in newborn screening (NBS) programmes worldwide. The Galician programme for early detection of inborn errors of metabolism (IEM) was one of the first NBS programmes in Europe to incorporate mass ...
María L. Couce, María-Dolores Bóveda, Daisy E. Castiñeiras, María-Eugenia Vázquez-Mosquera, Sofía Barbosa-Gouveia , María-José De Castro, Agustin J. Iglesias-Rodríguez, Cristóbal Colón, José A. Cocho, Paula Sánchez   +9 more
doaj   +1 more source

Characterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric Clinicians

JAMA pediatrics, 2017
C. Moore, J. E. Staples, W. Dobyns, A. Pessoa, C. Ventura, E. Fonseca, E. Ribeiro, Liana O Ventura, Norberto Nogueira Neto, J. F. Arena, S. Rasmussen   +10 more
semanticscholar   +1 more source

Congenital Steatorrhœa with Congenital Morbus Cordis [PDF]

Proceedings of the Royal Society of Medicine, 1939
C. Hardwick, W. J. Pearson
openaire   +3 more sources

Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cousin syndrome is a rare skeletal dysplasia characterized by distinctive facial features, humeroradial synostosis, and hypoplasia of the ilia and scapula. Since the original description of the phenotype in two cases by Cousin in 1982, only three additional cases have been published.
Suzanne E. L. Detiger, Martijn V. Verhagen, Tuula Rinne, Hermine E. Veenstra‐Knol   +3 more
wiley   +1 more source

CONGENITAL HYPERTROPHIC STENOSIS OF THE PYLORUS AND ITS TREATMENT BY PYLOROPLASTY. [PDF]

, 1902
Edmund Cautley, C. T. Dent
openalex   +1 more source

Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Poland Anomaly is a rare congenital disorder typically characterized by hypoplasia or agenesis of pectoral muscle with or without ipsilateral limb hypoplasia. The association of central nervous system malformation with Poland Anomaly has been rarely reported and includes craniofacial dysplasia, microcephaly, and Dandy‐Walker malformation ...
Alessandra Greta Grassi, Silvia Pontesilli, Laura Demelas, Francesca Vigliani, Massimo Agosti, Angelo Selicorni   +5 more
wiley   +1 more source

Prevalence and characteristics of oral and dental anomalies in Tunisian individuals with Down syndrome: a descriptive study

Egyptian Journal of Medical Human Genetics
Backgrounds Trisomy 21 is the most common chromosomal abnormality and is clinically characterized by variable intellectual disability, typical facial dysmorphism, polymalformative syndrome, and oral and dental abnormalities, which are ten times more ...
Yasmine Boukhalfa, Lilia Kraoua, Faouzi Maazoul, Jihène Zaroui, Ridha M’rad   +4 more
doaj   +1 more source

Congenital Intrinsic Duodenal Obstruction

, 1956
Thomas C. Moore
openalex   +2 more sources

On Congenital Ulnar Deviation of the Fingers of Familial Occurrence [PDF]

, 1932
Arthur Lundblom
openalex   +1 more source

Ethnical variations in the incidence of congenital heart defects in Gorgan, Northern Iran: A single-center study [PDF]

, 2014
Background: Congenital heart disease (CHD) is the most common congenital anomaly in newborns. This study was performed to determine the live birth incidence of CHD by ethnicity and sex in Gorgan, Northern Iran.
Golalipour, M.J., Nikyar, A., Nikyar, B., Qorbani, M., Sedehi, M.   +4 more
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