Results 281 to 290 of about 748,269 (346)
Fathers' emotion framing and children's emotional competence
Amanda E Bruedigam
openalex +1 more source
ABSTRACT Pathogenic variants in the SCN5A gene and its subunits have been identified in individuals with Brugada Syndrome. One such SCN5A variant, c.689T>C(p.Ile230Thr), was previously reported as disease‐causing only in homozygous individuals, with heterozygous carriers being unaffected.
Shayla Shojaat +2 more
wiley +1 more source
Becoming fathers, becoming caregivers: A qualitative exploration of intersectional influences shaping caregiving in an urban poor South Indian setting. [PDF]
Lobo E +5 more
europepmc +1 more source
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou +6 more
wiley +1 more source
Father involvement in family dynamics: a qualitative exploration of perceptions and cultural influences. [PDF]
Gebresilase BM +5 more
europepmc +1 more source
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
The impact of childhood maltreatment on paternal antenatal bonding: the mediating role of antenatal depression. [PDF]
Bevacqua E +14 more
europepmc +1 more source
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan +4 more
wiley +1 more source

