Results 51 to 60 of about 4,707 (196)
Journal of Intellectual Disability Research, EarlyView.ABSTRACT Background Whole exome sequencing (WES) has improved diagnostic rates for neurodevelopmental disorders (NDDs) while introducing challenges in novel variant interpretation. DHX30‐related NDD (DHX30‐NDD) is a recently described condition with an evolving phenotypic spectrum.
Nattaporn Tassanakijpanich +3 more
wiley +1 more source
The role of genetic factors in microtia: A systematic review [PDF]
Background: Microtia is a congenital malformation of the outer ears caused by improper embryonic development. The origin of microtia and causes of its variations remain unknown.
Rachmaniar Pramanasari, - +4 more
core +1 more source
Abnormal soft palate movements in patients with microtia [PDF]
, 2018 Introduction: Microtia is a congenital malformation of the auricle, ranging in severity. It can be isolated or associated with (craniofacial) anomalies. Most of these anomalies together are described as being part of the oculo-auriculo-vertebral spectrum
Kon, M. +3 more
core +1 more source
Key Genes Identified in Nonsyndromic Microtia by the Analysis of Transcriptomics and Proteomics
, 2022 As one of the common birth defects worldwide, nonsyndromic microtia is a complex disease that results from interactions between environmental and genetic factors.
Jing Ma (24574) +8 more
core +3 more sources
Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.Using whole‐exome sequencing, we identified a novel TCOF1 frameshift variant (c.1601_1602delCC, p.Pro534Leufs*15) in a Chinese family with Treacher Collins syndrome. The variant produces a severely truncated Treacle protein lacking key functional domains.
Feiyang Fan +3 more
wiley +1 more source
Audiometry results of the patients with microtia.
, 2021 Audiometry results of the patients with microtia.
Saptawati Bardosono (9700205) +5 more
core +1 more source
Short‐Term Complications Are Rare After Cholesteatoma Surgery
Clinical Otolaryngology, Volume 51, Issue 5, Page 660-665, September 2026.ABSTRACT Objective To evaluate the incidence and nature of short‐term complications following cholesteatoma surgery in a heterogeneous cohort. Design A retrospective cohort study including complete coverage of cholesteatoma surgery in a Swedish region between 1 January 2005 and 31 December 2015.
Agnes Modée Borgström +3 more
wiley +1 more source
International trends in the treatment of microtia
, 2011 Background: Microtia is a well-known craniofacial malformation treatable with numerous different treatment strategies and techniques. The purpose of this study was to analyze the current international trends in microtia repair.
Kon, Moshe +5 more
core +1 more source
Orthodontics &Craniofacial Research, Volume 29, Issue 4, Page 680-687, August 2026.ABSTRACT Background Treacher Collins Syndrome (TCS) is an uncommon congenital disease of the craniofacial complex. While there are ‘classic’ facial manifestations of TCS, they present with a wide range of variability. Face2Gene (F2G) is a deep‐learning algorithm that can provide differential diagnoses of syndromes via analysis of 2‐dimensional facial ...
Jie Han Timothy Sng +2 more
wiley +1 more source
Lop Ear to Conchal Microtia [PDF]
, 2022 BACKGROUND The lop ear deformity is defined by a deficient helix and scapha, underdeveloped anthelix, and downfolding of the helix. The terminology used is still confusing, and the treatment is not entirely structured.
Mohammed Aldabbas +7 more
core +2 more sources