Results 171 to 180 of about 7,461,416 (297)

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Efficacy of virtual reality pure-tone audiometry in training of hearing test for audiologist. [PDF]

Heliyon
Kwak C, Kim J, Jang H, Han W, Seo YJ.
europepmc   +1 more source

test

, 2000
test
core  

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +1 more source

Digits-In-Noise Hearing Test Using Text-to-Speech and Automatic Speech Recognition: Proof-of-Concept Study. [PDF]

Trends Hear
Fatehifar M, Munro KJ, Stone MA, Wong D, Cootes T, Schlittenlacher J.   +5 more
europepmc   +1 more source

Differential Diagnosis of Mucopolysaccharidoses Types I, II, III, IVA, and VI Through Analysis of Leukocytic Inclusions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mucopolysaccharidoses (MPS) are lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs), which can lead to cytoplasmic alterations in leukocytes. The objective of this study was to characterize leukocyte inclusions in patients with different types of MPS and assess their diagnostic relevance.
Márcio A. W. Melo, Marcelo S. Kertenetzky, Cristina M. Silveira, Maíra M. Ribeiro, Paula F. Medeiros, Gabriela S. Arcanjo   +5 more
wiley   +1 more source

Improving Access to Adult Hearing Care: A Retrospective Review of an Awareness Campaign and Community Hearing Test Service. [PDF]

Inquiry
Sciberras A, Greenham P, D'Haese P.
europepmc   +1 more source

Hearing and hearing disorders. 2. Hearing test.

Japanese Journal of National Medical Services, 1986
INO, Tadahiko, YAKABE, Shigeru, TAKEO, Sadanori, MAEKAWA, Soichiro, YOSHIDA, Yasuhiro, IKEJIRI, Koji   +5 more
openaire   +1 more source

Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality.
Karl De Geer, Britt‐Marie Anderlid, Lena Jacobson, Daniel Martín Muñoz, Erik Björck   +4 more
wiley   +1 more source

Extended High-Frequency Audiometry Using the Wireless Automated Hearing Test System Compared to Manual Audiometry in Children and Adolescents. [PDF]

Ear Hear
Blankenship CM, Hickson LM, Quigley T, Larsen E, Lin L, Hunter LL.   +5 more
europepmc   +1 more source