Results 151 to 160 of about 8,710,665 (375)
De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Liprin‐α2, encoded by PPFIA2, belongs to the family of Liprin‐α proteins which constitute major synaptic scaffolds participating in the assembly and maturation of synapses. Heterozygous de novo variants in PPFIA2 were identified by exome or genome sequencing in two unrelated individuals with a neurodevelopmental disorder.
Theresa Brunet +11 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous pathogenic variants in TBX3 cause Ulnar‐Mammary syndrome (UMS). The phenotype is classically characterized by upper limb defects, apocrine/mammary gland hypoplasia, hypogonadism, and various midline defects. However, the clinical spectrum is highly variable, and some individuals may present with a mild or atypical presentation ...
Ziv Halperin, Karin Weiss
wiley +1 more source
Trends in Amplitude-Integrated Electroencephalography in the Smallest Preterm Neonates
ChildrenBackground. Amplitude-integrated electroencephalography is increasingly used for the neuromonitoring of premature infants. However, it is still not clear how bioelectrical activity changes in the smallest gestational age newborns.
Kristina Štuikienė +5 more
doaj +1 more source
Changes in distribution of gestational age and birth weight among firstborn infants of Cardiff residents. [PDF]
, 1977 Robert G. Newcombe, Iain Chalmers
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT A de novo, missense variant in ITPR1‐inositol 1,4,5‐trisphosphate receptor type 1 (ITPR1), p.(Tyr567Cys), was identified by trio whole‐genome sequencing in an individual diagnosed with Spinocerebellar ataxia 29 (SCA29) who was affected by cerebral palsy and global developmental delay.
Thania Ordaz +12 more
wiley +1 more source
Confirmation of gestational age by external physical characteristics (total maturity score). [PDF]
, 1979 J. I. Cater
openalex +1 more source
Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato +2 more
wiley +1 more source
A Comparative Study of Renal Size in Newborn Babies
Gomal Journal of Medical Sciences, 2004 Background: In neonatal period usual presentation of renal anomalies is an increase or decrease in renal size. This study was conducted to assess renal size of normal newborn babies and to determine the best parameter against which kidney size should be ...
Aamir Daud +6 more
doaj
The influence of environment, activity and gestational age on evaporative water loss [PDF]
, 1979 Gunnar Sedin +3 more
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips +8 more
wiley +1 more source