Results 161 to 170 of about 5,422,252 (388)

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi   +11 more
wiley   +1 more source

Postnatal care provided by UK midwifery units and the impact of the COVID-19 pandemic: A survey using the UK Midwifery Study System (UKMidSS)

open access: yesHeliyon
Background: Postnatal care supports healthy transitions to parenthood, mother-infant relationships, and breastfeeding establishment. Highly valued by women and families, it is often an area where parents report low satisfaction compared with other areas ...
Imogen Whyte   +3 more
doaj   +1 more source

Prevalence and Determinants of Complete Postnatal Care Service Utilization in Northern Shoa, Ethiopia

open access: yesJournal of Pregnancy, 2018
Background. Postnatal period presents the highest risk of death for mothers and newborns. Although progress has been made in expanding the coverage for most of maternal health services, national prevalence of postnatal care service utilization in ...
Mohammed Akibu   +3 more
doaj   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston   +35 more
wiley   +1 more source

A Home-Start peer support scheme for women with low mood following childbirth [PDF]

open access: yes, 2015
Perinatal mental health problems vary in impact and severity, and can have long-lasting effects on maternal health and child psychological health and development.
Hayter, Mark   +2 more
core  

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley   +1 more source

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline   +3 more
wiley   +1 more source

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