Results 151 to 160 of about 1,081,271 (339)

Association Between Feeding Problems and Gastrointestinal Symptoms, Language, and Developmental History in Adults With Angelman Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delays, typical facial features, ataxia, seizures, speech impairments, sleeping difficulties, and a happy demeanor. Caregivers of individuals with AS often report feeding problems, with difficulties including issues with obesity, failure to gain ...
Ciara Cassidy   +6 more
wiley   +1 more source

FAKTOR­-FAKTOR RISIKO TERJADINYA ASFIKSIA NEONATORUM DI RSD JOMBANG PERIODE 1 JANUARI ­- 31 DESEMBER 2007 [PDF]

open access: yes, 2009
Neonatal Asphyxia is an emergency condition when the baby failed to breath spontaneously and regularly after they were born. Neonatal asphyxia remains the main cause of neonatal mortality as well as permanent neurological abnormality.
SUNDARI TIKA, TRI
core  

A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas   +2 more
wiley   +1 more source

Phenotypical and Genotypical Expansion of Autosomal‐Dominant KDM1A‐Related Neurodevelopmental Disorder Spectrum: A Case Report

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart   +6 more
wiley   +1 more source

Perinatal Mortality Rate as a Quality Indicator of Healthcare in Al-Dakhiliyah Region, Oman

open access: yesSultan Qaboos University Medical Journal, 2013
Objectives: This study aimed to provide insight into the causes of stillbirths and early neonatal deaths and identify better intervention strategies. Methods: This was a retrospective study during a 7-year period (January 2003 to December 2009) of all ...
Asha Santosh   +5 more
doaj  

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