Results 71 to 80 of about 4,480 (201)
Congenital malformations [PDF]
, 2012 Congenital malformations are single or multiple defects of the morphogenesis of organs or body districts identifiable at birth or during the intrauterine life. Their global birth prevalence is about 2–3%.
CORSELLO, Giovanni, GIUFFRE, Mario
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Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón +33 more
wiley +1 more source
Journal of Lipid Research, 2001 The mono-(dimethylaminoethyl) succinyl (MDMAES) ester is a new derivative for rapid, mild, and sensitive electrospray ionization tandem mass spectrometry (ESI-MS/MS) analysis of cholesterol and dehydrocholesterol.
D.W. Johnson, H.J. ten Brink, C. Jakobs
doaj +1 more source
Clinical Case Reports, Volume 13, Issue 10, October 2025.ABSTRACT Cerebral folate deficiency (CFD) is characterized by reduced levels of folate, particularly 5‐methyltetrahydrofolate (5‐MTHF), in the cerebrospinal fluid (CSF). This case report describes a 10‐year‐old girl diagnosed with CFD due to a pathogenic mutation in the FOLR1 gene, which impairs folate transport across the blood–brain barrier.
Farzad Ahmadabadi +4 more
wiley +1 more source
The ins and outs of cholesterol in the vertebrate retina
Journal of Lipid Research, 2010 The vertebrate retina has multiple demands for utilization of cholesterol and must meet those demands either by synthesizing its own supply of cholesterol or by importing cholesterol from extraretinal sources, or both. Unlike the blood-brain barrier, the
Steven J. Fliesler, Lionel Bretillon
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Investigation of Bone Metabolism in Healthy 6-8 Years Old Children [PDF]
, 2013 10
Csákváry Violetta
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Genome-wide search for strabismus susceptibility loci. [PDF]
, 2003 The purpose of this study was to search for chromosomal susceptibility loci for comitant strabismus. Genomic DNA was isolated from 10mL blood taken from each member of 30 nuclear families in which 2 or more siblings are affected by either esotropia or ...
Fujiwara, Hirotake +6 more
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Molecular Genetics &Genomic Medicine, Volume 13, Issue 10, October 2025.Pallister‐Hall syndrome: from phenotype to molecular diagnosis. ABSTRACT Background Pallister‐Hall syndrome (PHS) is an extremely rare genetic disorder. It presents as a polymalformative syndrome affecting craniofacial structures, the central nervous system, limbs, various internal organs, and the endocrine system.
Sebastián Bonilla‐Navarrete +5 more
wiley +1 more source
Smith Lemli Opitz syndrome: a case report
Khyber Medical University Journal, 2015 INTRODUCTION; Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive genetic condition caused by deficiency of the enzyme 7-dehydrocholesterol-delta 7-reductase.
saima ali, Saffiullah Khalil, Liaqat Ali
doaj
Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients
Genetics and Molecular Biology, 2006 Smith-Lemli-Opitz syndrome (SLOS) or RSH syndrome comprises multiple congenital anomalies and mental retardation. The underlying defect is a deficiency in the activity of delta7-sterol reductase, which decreases cholesterol and increases 7 ...
Fernanda B. Scalco +4 more
doaj +1 more source