Results 131 to 140 of about 439,425 (337)
Integrating pharmacogenomics into clinical trials of hearing disorders. [PDF]
J Acoust Soc Am, 2022 Brutnell TP, Wang X, Bao J.
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim +9 more
wiley +1 more source
Systematic Review and Meta-Analysis of the Application of Virtual Reality in Hearing Disorders. [PDF]
J Audiol Otol, 2022 Kwak C, Han W, Bahng J.
europepmc +1 more source
Beyond Critical Period Learning: Striatal FoxP2 Affects the Active Maintenance of Learned Vocalizations in Adulthood. [PDF]
, 2019 In humans, mutations in the transcription factor forkhead box P2 (FOXP2) result in language disorders associated with altered striatal structure. Like speech, birdsong is learned through social interactions during maturational critical periods, and it ...
Day, Nancy F +3 more
core
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss +8 more
wiley +1 more source
Evaluation of the Recovery of Idiopathic Sudden Sensorineural Hearing Loss Based on Estimated Hearing Disorders. [PDF]
Audiol Res, 2022 Nishimura T +5 more
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani +17 more
wiley +1 more source
Hearing loss and tinnitus: association studies for complex-hearing disorders in mouse and man. [PDF]
Hum Genet, 2022 Boussaty EC +3 more
europepmc +1 more source
Children's naming and word-finding difficulties: descriptions and explanations [PDF]
, 2006 Purpose: There are a substantial minority of children for whom lexical retrieval problems impede the normal pattern of language development and use. These problems include accurately producing the correct word even when the word?s meaning is understood ...
Dockrell, Julie, Messer, D
core +1 more source