Results 111 to 120 of about 76,951 (280)
Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome [PDF]
, 2022 Gözde Tutku Turgut +6 more
openalex +1 more source
Clinical Genetics, EarlyView.This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau +7 more
wiley +1 more source
Vena cava anomalies in thoracic surgery [PDF]
, 2018 Background: Vena cava anomalies are a rare group of anatomical variations due to an incorrect development of the superior or inferior vena cava during fetal life.
Anile, Marco +7 more
core +1 more source
Homo luzonensis and the role of homoplasy in the morphology of hominin insular species
Cladistics, EarlyView.Abstract Homo luzonensis lived during the upper Pleistocene in the northern Philippines, east of the Wallace line. The few specimens attributed to this species show a mosaic of plesiomorphies for the genus Homo and apomorphies found in upper Pleistocene Homo species.
Pierre Gousset +4 more
wiley +1 more source
Searching for "monogenic diabetes" in dogs using a candidate gene approach [PDF]
, 2014 BACKGROUND: Canine diabetes is a common endocrine disorder with an estimated breed-related prevalence ranging from 0.005% to 1.5% in pet dogs. Increased prevalence in some breeds suggests that diabetes in dogs is influenced by genetic factors and ...
Catchpole, B +7 more
core +3 more sources
Kdf1 Regulates Molar Cusp Morphogenesis via the PI3K/AKT/mTOR Signalling Axis
Cell Proliferation, EarlyView.Epithelial Kdf1 knockout disrupts molar cusp morphogenesis by promoting inner enamel epithelium proliferation and invagination via PI3K/AKT/mTOR signalling. ABSTRACT Keratinocyte differentiation factor 1 (Kdf1) reportedly plays a significant role in enamel formation.
Jiayu Wang +9 more
wiley +1 more source
Agenesis of Corpus Callosum and Frontotemporal Dementia [PDF]
, 2014 Rocco Salvatore Calabrò +5 more
openalex +1 more source
Is a low sacral ratio associated with primary vesicoureteral reflux in children? [PDF]
, 2013 Introduction: The association of sacral anomalies with fecal incontinence and lower urinary tract dysfunction is known. The sacral ratio is proposed as a tool for evaluation of sacral development. The aim of this cross-sectional study was to evaluate the
Esfahani, S.T. +2 more
core
Mesiodistal inclination of the unerupted second premolar in the mandible of Japanese orthodontic patients with incisor agenesis [PDF]
, 2015 Kenichi Kure, Kazuhito Arai
openalex +1 more source