Results 291 to 300 of about 748,269 (346)

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

Association between household food security and socioeconomic status with paternal smoking: Findings from SEANUTS II Malaysia. [PDF]

open access: yesPLoS One
Yeo GS   +15 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

Male polycystic ovarian syndrome phenotype: a meta-analysis of endocrine-metabolic dysregulation in fathers and brothers of PCOS-affected women. [PDF]

open access: yesBasic Clin Androl
Jafarabady K   +7 more
europepmc   +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

Longitudinal associations between father- and mother-child interactions, coparenting, and child cardiometabolic health. [PDF]

open access: yesHealth Psychol
Aytuglu A   +5 more
europepmc   +1 more source

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