Results 231 to 240 of about 225,828 (274)

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

Psychological challenges of distance parenting among young working mothers. [PDF]

open access: yesDiscov Ment Health
Modise TV   +2 more
europepmc   +1 more source

Compound Heterozygosity in PGAP3 Causing Mabry Syndrome in a South African Patient

open access: yes
American Journal of Medical Genetics Part A, EarlyView.
Carli Loubser, Shahida Moosa
wiley   +1 more source

RNA Sequencing for Rare Disease Diagnosis in a South African Family: A Novel Exon Elongation Event in OFD1

open access: yes
American Journal of Medical Genetics Part A, EarlyView.
Jana van der Westhuizen   +2 more
wiley   +1 more source

Home - About - Disclaimer - Privacy