Results 121 to 130 of about 4,821,829 (246)
Community Dentistry and Oral Epidemiology, EarlyView.ABSTRACT Objectives To explore how individuals who have lost or have missing teeth and subsequently received dentures make sense of the factors influencing their oral health and well‐being. Methods Thematic and structural narrative analysis was used to evaluate 19 semi‐structured interview transcripts from a secondary dataset of United Kingdom adults ...
Heba Ramadan Salama +3 more
wiley +1 more source
Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita
Clinical Genetics, EarlyView.We report on two individuals with arthrogryposis multiplex congenita who were heterozygous for ACTC1 missense variants (NM_005159.5; c.325G>A, p.Glu109Lys and c.650A>C, p.Lys217Thr) and provide a characterization of these variants through in vitro studies.
Lauren Kerr +5 more
wiley +1 more source
Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border
Clinical Genetics, EarlyView.Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart +17 more
wiley +1 more source
A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy
Clinical Genetics, EarlyView.PIP5K1C‐related lethal congenital contracture syndrome with hyperinsulinism and optic atrophy. ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C, reported in only two families to date.
Tameemi Abdalla Moady +3 more
wiley +1 more source
Clinical Genetics, EarlyView.Heterozygous de novo nonsense variants in the penultimate and last exons of NUSAP1 were identified in two unrelated individuals, predicted to escape NMD. In population data, nonsense variants were observed in exons 1–9 (of 11) in NUSAP1 but were absent from its 3′‐terminal region.
Maureen Jacob +15 more
wiley +1 more source
A study into the clinical effects of the rapid palatal expansion
, 2017 This thesis contains different studies on the effects of the rapid palatal expansion.The purpose of this thesis is to investigate some of the effects of palatal expansion which are still unaddressed in literature.
DI VECE, LUCA
core +1 more source
Cladistics, EarlyView.Abstract Cingulata, a major lineage of Xenarthra, comprises extinct and extant armoured placental mammals that diversified throughout the Cenozoic. Despite extensive study, phylogenetic hypotheses based on morphological and molecular data remain incongruent, and no total evidence analysis has been conducted. Here, we integrate the largest morphological
Daniel M. Casali +7 more
wiley +1 more source
e aim of this systematic review was to evaluate the existing literature about the effects of bonded rapid maxillary expansion appliance (BRMEA) on vertical and sagittal dimensions, and the possible advantages of its use.
Moara De Rossi, Renata Andréa Salviti de Sá Rocha, Maria Beatriz Duarte Gavião
core
Developmental Medicine &Child Neurology, EarlyView.Abstract Aim To explore the experiences of mental health difficulties and access to mental health support among young people with cerebral palsy (CP). Method We used a qualitative descriptive design. Participants were young people with CP aged 13 to 25 years and parents of children with CP (6–25 years).
Manjula Manikandan +15 more
wiley +1 more source
Developmental Medicine &Child Neurology, EarlyView.Aim To examine longitudinal changes in speech and gross motor function in children with cerebral palsy (CP) between 4 years and 14 years of age using the Viking Speech Scale (VSS) and the Gross Motor Function Classification System (GMFCS). Method In this longitudinal observational study, 44 children (26 male, 18 female) with CP were assessed at ages 4 ...
Sydney A. Jensen, Katherine C. Hustad
wiley +1 more source