Results 241 to 250 of about 1,636,764 (314)

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle   +10 more
wiley   +1 more source

Identifying age 26 as a threshold in psychosocial risks associated with child maltreatment among first-time mothers: a cross-sectional study in Japan. [PDF]

open access: yesFront Public Health
Baba K   +13 more
europepmc   +1 more source

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg   +9 more
wiley   +1 more source

Maternal Perceptions and Practices in Trachoma Prevention: A Descriptive and Correlational Analysis Using the Health Belief Model in Rural Ethiopia. [PDF]

open access: yesHealth Sci Rep
Asmare ZA   +19 more
europepmc   +1 more source

Effects of an early childhood father engagement program in Rohingya camps and host community in Cox's Bazar, Bangladesh: a cluster randomized controlled trial. [PDF]

open access: yesBMC Glob Public Health
Iqbal Y   +14 more
europepmc   +1 more source

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