Results 201 to 210 of about 2,035,475 (362)

Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent‐Centered Website: Parental and Professional Views

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The scarcity of clinical information surrounding rare chromosome disorders poses challenges for parents and clinicians. To bridge this gap for chromosome 6 disorders, the Chromosome 6 Project collects detailed genotype and phenotype data, aiming to provide aberration‐specific phenotype information to parents via an interactive website.
Eleana Rraku, Aafke Engwerda, Tyler D. Medina, Morris A. Swertz, Lennart F. Johansson, Conny M. A. van Ravenswaaij‐Arts, Imke Christiaans   +6 more
wiley   +1 more source

A CASE REPORT OF SPEECH TRAINING FOR HEARING IMPAIRED CHILD

, 1964
Hijiei Ogata, Sanetomi Eguchi, TSUKASA YAMAGUCHI   +2 more
openalex   +2 more sources

Predicted Impairment and Handicap from Exposure to Steady-State Broad-Band Industrial Noise [PDF]

, 2013
In this work, the empirical formula derived by Chagok and Gyang (2012)in conjunction to the AAO-1979 rule was used to predict values for the monaural impairment and the hearing handicap for exposure to steady-state broad-band industrial noise.
D., Chagok, N.M., I., Jwanbot, D., L., Domtau, D., M., Izam, M., P., Fom, T.   +4 more
core   +1 more source

Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev, Paula Fernandez Alvarez, Marika Frank, Lucy Hanington, Trevor L. Hoffman, Mira B. Irons, Jenny Kim, Akash Kumar, Amaia Lasa‐Aranzasti, Diana Le Duc, Helen Livesey, Oliver Murch, Deborah Shears, Brandon K. Walther, Tamar Harel   +14 more
wiley   +1 more source

Mitochondrial tRNASer(UCN) mutations associated non-syndromic sensorineural hearing loss in Chinese families

Heliyon
Mitochondrial transfer RNA mutation is one of the most important causes of hereditary hearing loss in humans. Mitochondrial transfer RNASer (UCN) gene is another hot spot for mutations associated with non-syndromic hearing loss, besides the 12S ribosomal
Dejun Zhang, Jie Wu, Yongyi Yuan, Xiaohong Li, Xue Gao, Dongyang Kang, Xin Zhang, Sha-sha Huang, Pu Dai   +8 more
doaj  

HEARING IMPAIRMENT DUE TO HEAD BLOW

, 1965
Ichiro Kirikae, Shigeru Sugiura, Kimiaki Eguchi, Tetsuya Shitara, Tsunemasa Sato, Kenji Nakamura   +5 more
openalex   +2 more sources

A Practical Guide on Hearing Impaired Children [PDF]

, 1971

openalex   +1 more source

A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein Taybi syndrome (RTS) is a disorder of chromatin remodeling and transcriptional regulation caused by heterozygous pathogenic variants in CREBBP and EP300. RTS is characterized by a distinct facial gestalt, intellectual disability, structural kidney and heart differences, feeding difficulties, and broad thumbs and great toes ...
Devi Priyanka Maripuri, Jessica Gold, Nina Gold, Alanna Strong   +3 more
wiley   +1 more source

The influence of consonant environment on duration of vowels in the speech of normal hearing, moderately hearing impaired, and deaf adults [PDF]

, 1975
Robert L. Whitehead, K. O. Jones
openalex   +1 more source

Obesity Prevalence in DDX3X‐Related Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The purpose of this study is to analyze the prevalence of obesity in those affected by DDX3X‐related neurodevelopmental disorder (DDX3X‐NDD). Initial descriptions suggested that individuals with DDX3X‐NDD suffered from poor weight gain or failure to thrive in early childhood, likely in the setting of feeding difficulties and secondary to ...
Giavanna Verdi, Nathaniel H. Robin
wiley   +1 more source