Results 151 to 160 of about 670 (214)
Surgical Management of Non‐Allergic Rhinitis—An EAACI Task Force Position Paper
Allergy, EarlyView.ABSTRACT Non‐allergic rhinitis is a frequent yet underdiagnosed cause of chronic nasal symptoms, including nasal congestion, rhinorrhoea, and upper airway hyperreactivity. Its pathophysiology involves neurogenic dysregulation, leading to excessive mucus production and vasodilation.
Marie Lundberg +18 more
wiley +1 more source
[Appliances for the expansion of the palate].
Revista de la Asociacion Odontologica Argentina, 1967 openaire +1 more source
Andrology, EarlyView.ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding +3 more
wiley +1 more source
Acta Obstetricia et Gynecologica Scandinavica, EarlyView.Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao +5 more
wiley +1 more source
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
Clinical Endocrinology, EarlyView.ABSTRACT Congenital hypogonadotropic hypogonadism (CHH) is a rare group of disorders of gonadotropin deficiency, either isolated or as a part of multiple pituitary hormone deficiencies (MPHD). We aimed to describe the spectrum of presentation, diagnosis, and management practices of CHH spanning 30 years at an Australian tertiary paediatric centre. This
Minha Kook +3 more
wiley +1 more source
Clinical Genetics, EarlyView.This study reports a female proband with a de novo 9q34.11 deletion affecting SET, who underwent a 28‐year diagnostic odyssey after an atypical Rett syndrome clinical diagnosis. Genomic and proteomics analyses confirmed SET haploinsufficiency, refining the critical 9q34.11 region, and supporting speech therapy benefits in improving meaningful ...
Angelo Condell +14 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
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
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