Results 61 to 70 of about 1,410,935 (286)
Growth chart for fetal femur length/head circumference ratio.
, 2017 Growth chart for fetal femur length/head circumference ratio.
A. Metin Gülmezoglu (142912) +21 more
core +1 more source
Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf +7 more
wiley +1 more source
Head circumference index in children and adolescents with autism spectrum disorders in comparison to intellectual disability and its relationship with cognitive factors [PDF]
Majallah-i dānishgāh-i ̒ulūm-i pizishkī-i Arāk, 2015 Background: Head circumference (and its related morphologic factors such as head length and width) is one of the morphologic indices that people with autism spectrum disorders (ASD) have different developmental patterns in comparison to their peers.
Shayestefar M +4 more
doaj
Optic nerve sheath diameter (ONSD) and head circumference.
, 2013 Optic nerve sheath diameter (ONSD) and head circumference.
Md Amir Hossain (491944) +11 more
core +1 more source
COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad +7 more
wiley +1 more source
Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert +31 more
wiley +1 more source
Validation and human factor analysis study of an infant weight estimation device
BMC Pediatrics, 2020 Background Weight is critical for the medical management of infants; however, scales can be unavailable or inaccessible in some practice settings. We recently developed and validated a robust infant weight estimation method based on chest circumference ...
Susan M. Abdel-Rahman +6 more
doaj +1 more source
Sex Differentiation of Humerus: An Osteometric Study [PDF]
Journal of Clinical and Diagnostic Research, 2018 Introduction: Forensic experts and anthropologists often have a task of identification of sex of skeletal remains which is an aspect of the biological profile of an individual.
Shaikh Siraj Ahmed +2 more
doaj +1 more source
Revista Brasileira de Ginecologia e Obstetrícia, 2011 OBJETIVO: Comparar a sobrevida pós-natal de fetos com hérnia diafragmática congênita esquerda grave isolada, os quais foram submetidos à oclusão traqueal, com a de controles não randomizados contemporâneos.
Cleisson Fábio Andrioli Peralta +5 more
doaj +1 more source
An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula +8 more
wiley +1 more source