Results 251 to 260 of about 257,579 (343)

A Rare Case of Wolfram Syndrome in a 27-Year-Old Male From Nepal. [PDF]

Cureus
Shah TP, Sidlow R, Sah PK.
europepmc   +1 more source

Diabetes management in maternally inherited diabetes and deafness (MIDD): A review and a proposed treatment algorithm

Diabetes, Obesity and Metabolism, EarlyView.
Abstract Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder usually caused by the variant m.3243A>G in the MT‐TL1 gene. We have proposed that diabetes in MIDD arises from a combination of insulin resistance and impaired β‐cell function that is more likely to occur in the presence of high skeletal muscle heteroplasmy and ...
Ahsen Chaudhry, David M. Thompson, Jean‐Pierre Chanoine   +2 more
wiley   +1 more source

The Use of Simultaneous Communication in the Philippine Schhol for the Deaf

, 1996
Emelita F. Arevalo, Shinro Kusanagi
openalex  

On hearing acuity threshold of a deaf child.

, 1990
Tsutomu Uchiyama
openalex   +2 more sources

PAC‐FOS: A novel translational concordance framework identifies preclinical seizure models with highest predictive validity for clinical focal onset seizures

Epilepsia, EarlyView.
Abstract Objective Central to the development of novel antiseizure medications (ASMs) is testing of antiseizure activity in preclinical models. Although various well‐established models exist, their predictive validity across the spectrum of clinical epilepsies has been less clear.
Lyndsey L. Anderson, Kristopher M. Kahlig, Melissa L. Barker‐Haliski, Lillian G. Matthews, Hamish D. Toop, Brian Hannigan, Jacqueline French, H. Steve White, Marcio Souza, Steven Petrou   +9 more
wiley   +1 more source

Patterns of Cochlear Implant Use and Speech Exposure in Children With Single-Sided Deafness Compared to Bimodal Devices in the Post-Pandemic Period. [PDF]

Ear Hear
Gao H, Bartels H, Wener E, Negandhi J, Papsin BC, Cushing SL, Gordon KA.   +6 more
europepmc   +1 more source

Christine Mengel, Plaintiff, v. Reading Eagle Company, Defendant. [PDF]

, 2013
Stengel, Judge Lawrence J.
core   +1 more source

Long‐read sequencing of recurrent FGF12 duplications in epilepsy: Insights into structural mechanisms and aberrant isoforms

Epilepsia, EarlyView.
Abstract Objective Fibroblast growth factor 12 (FGF12), a member of the fibroblast homologous factor family, plays a key role in the modulation of voltage‐gated sodium (Nav) channels. Pathogenic variants in the FGF12 gene leading to a gain‐of‐function mechanism and partial duplication encompassing the FGF12 gene leading to a loss‐of‐function mechanism ...
Jade Fauqueux, Laurence Chaton, Pierre Cleuziou, Anne‐Sophie Diependaële, Nathalie Bach, Nicolas Gruchy, Marion Gerard, Jean‐Pascal Meneboo, Céline Villenet, Martin Figeac, Emilie Ait‐Yahya, Caroline Thuillier, Elise Boudry, Adeline Trauffler, Sylvie Nguyen‐The‐Tich, Simon Boussion, Roseline Caumes, Jamal Ghoumid, Thomas Smol   +18 more
wiley   +1 more source

FITM2-Related Siddiqi Syndrome in Two Iranian Siblings. [PDF]

Clin Case Rep
Ahmadi R, Bavarsad MJ, Feizollah Jani M, Azizimalamiri R.   +3 more
europepmc   +1 more source

The Deaf History and Historical Linguistics for Sign Language with Whale’s- and Flounder’s-Eye Views

, 2017
Akio SUEMORI
openalex   +2 more sources