Results 91 to 100 of about 214,592 (345)

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes   +3 more
wiley   +1 more source

Deconstructing the stereotypes: building mutual respect [PDF]

open access: yes, 2010
Through a combination of a detailed literature review and structure online survey, the study seeks to establish the extent of interdisciplinary attitudes within built environment students at Kingston University, whilst building a picture of not only the ...
Clements, Billy, Sayce, Sarah
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

Why are there still so few men within Early Years in primary schools: views from male trainee teachers and male leaders? [PDF]

open access: yes, 2013
One of the challenges facing the Early Years (EY) sector is how to encourage more male practitioners to counterbalance a largely feminised workforce. Using case studies of male trainees at different stages of their primary undergraduate Initial Teacher ...
Mistry, M, Sood, K
core   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen   +13 more
wiley   +1 more source

‘The Other Parent’: A Critical Policy Analysis of Fatherhood Discourses in the Australian Government's Paid Parental Leave Scheme

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT The Australian paid parental leave (PPL) government scheme aims to support working parents through financial assistance and the promotion of gender equality in caregiving responsibilities. However, the scheme's implementation has been critiqued for its gendered design, which marginalises fathers and reinforces traditional gender roles.
Lily Lewington   +2 more
wiley   +1 more source

Experiencing Negative Racial Stereotyping: The Case of Coloured People in Johannesburg, South Africa

open access: yesSocial Sciences
Scholars examining racial stereotyping and prejudice in racially organised social systems have largely focused on how non-White ethnic and racial groups experience racial stereotyping in White-majority national contexts such as the US, Australia and ...
Amanuel Isak Tewolde
doaj   +1 more source

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