Results 141 to 150 of about 637,735 (407)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Chromosomal aberrations, particularly copy‐number variations (CNVs), are prevalent in neurodevelopmental disorders (NDD) and significantly contribute to their pathogenesis. Copy‐number gains (CN gains) in 15q11‐q13, primarily consisting of a pseudo (iso‐)dicentric chromosome 15 [(i)dic(15)] or an interstitial duplication, are among the most ...
Sebastian Burkart +5 more
wiley +1 more source
Mofokeng’s contribution to black Christology and theological education in South Africa
HTS Teologiese Studies/Theological StudiesThis article examines Takatso Mofokeng’s influential contributions to South African theological scholarship. It underscores the importance of his praxis-oriented approach to Christology and his dedication to socio-political justice, which enhance the ...
Tsholofelo J. Kukuni
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff +8 more
wiley +1 more source
6. Jerusalem: The Development of a Theology
, 1958 Christianity began as a religion centering around the person of Jesus, and not as a philosophy. It was rooted in Judaism, likewise a religion, not a philosophy.
Bloom, Robert L. +6 more
core
Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT This systematic review investigates factors influencing parental decision‐making following a prenatal diagnosis (PND) of Turner syndrome (TS), aiming to enhance the foundation for tailored and supportive genetic counseling. A comprehensive literature search was conducted in the medical databases PubMed, Embase, and CINAHL.
Inger Lily Hjuler Dorf +2 more
wiley +1 more source
Law of the leading digits and the ideological struggle for numbers
, 2011 Benford's law states that the occurrence of significant digits in many data sets is not uniform but tends to follow a logarithmic distribution such that the smaller digits appear as first significant digits more frequently than the larger ones.
Abrams +33 more
core +1 more source
The Insistence of Blackness and the Persistence of Antiblackness in Ireland
Australian Journal of Social Issues, EarlyView.ABSTRACT This paper positions Ireland as a critical site for examining the insistence of blackness and an antiblackness created and sustained through Irish ethnonationalist imaginaries and exclusionary processes. Drawing on connected sociologies and Irish Black Studies, this enquiry argues that antiblackness in Ireland operates as a generational force,
Philomena Mullen
wiley +1 more source