Results 211 to 220 of about 2,035,475 (362)

The effect of right versus left long-term single-sided deafness on sound source localization

open access: yesJournal of Otology
Purpose: To analyze the effect of right versus left long-term single-sided deafness (SSD) on sound source localization (SSL), discuss the necessity of intervention and treatment for SSD patients, and analyze the therapeutic effect of long-term unilateral
Qingqing Xia   +8 more
doaj  

Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The cohesin complex plays crucial roles in DNA repair, chromatid separation, and gene transcription regulation. Pathogenic variants in cohesins or dysfunctional transcriptional regulators lead to cohesinopathies, a broader group of disorders including Cornelia de Lange Spectrum (CdLSp), for which the prevalence of cancer cases remains unclear.
Laura Rigotti   +11 more
wiley   +1 more source

Conducting VR User Studies with People with Vision/Hearing Impairments: Challenges and Mitigation Strategies [PDF]

open access: yesarXiv
There is a lack of virtual reality (VR) user studies that have been conducted involving people with vision/hearing impairments. This is due to the difficulty of recruiting participants and the accessibility barriers of VR devices. Based on the authors' experience conducting VR user studies with participants with vision/hearing impairments, this ...
arxiv  

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione   +12 more
wiley   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong   +16 more
wiley   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo   +4 more
wiley   +1 more source

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