Results 81 to 90 of about 1,384 (167)

Neue Missense-Mutation bei sensorischer Tiefton-Schallempfindungsschwerhörigkeit (DFNA 6/14)

, 2003
Wir stellen die audiometrischen und molekulargenetischen Befunde einer Familie mit DFNA 6/14 vor. Bei der Erkrankung handelt es sich um eine mittelgradige sensorische Tief-Mitteltonschwerhörigkeit, die autosomal dominant vererbt wird.
Marquez-Klaka, B, Kunz, J, Berger, R, Uebe, S, Gross, M, Volz-Peters, A, Rausch, P   +6 more
core  

Pregnancy and Peripartum Multidisciplinary Management in Wolfram Syndrome Type 1: A Case Report. [PDF]

Diagnostics (Basel)
Esteban-Bueno G, Serrano Rodríguez ML.
europepmc   +1 more source

Routine Fundoscopy Uncovering Wolfram Syndrome in a Diabetic Patient: A Case Report. [PDF]

Cureus
Bazhar H, Loubna M, Bouslous N, Omar M.
europepmc   +1 more source

A case of a young patient with progressive vision loss: An atypical presentation of the rare Wolfram Syndrome in a Middle Eastern individual. [PDF]

Am J Ophthalmol Case Rep
Meisel M, Berkowitz E, Irge D, Tiosano B, Kesler A.   +4 more
europepmc   +1 more source

Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report. [PDF]

J Med Case Rep, 2023
Sahli M, Zrhidri A, Boualaoui I, Cherkaoui Jaouad I, El Kadiri Y, Nouini Y, Sefiani A.   +6 more
europepmc   +1 more source

Wolfram syndrome and diabetes mellitus in Aotearoa, New Zealand: Phenotype and response to GLP-1 receptor agonist therapy. [PDF]

Diabet Med
L'Amie A, Vincent AL, Jefferies CA, Braatvedt G, Wiltshire E, Mouat F, Albert BB, Murphy R.   +7 more
europepmc   +1 more source

An Endemic Region of Thiamine-Responsive Megaloblastic Anemia Caused by an <i>SLC19A2</i> c.1223+1G>A Founder Mutation. [PDF]

Int J Mol Sci
Gurzhikhanova M, Fomenko S, Chekanov N, Musharova O, Salimova T, Goronkova O, Abasov R, Raykina E, Zinchenko R, Sharova M, Khisamieva F, Imyanitov E, Sokolenko A, Klimuk E, Maschan A, Severinov K, Maschan M.   +16 more
europepmc   +1 more source

The Genetic Landscape and Precision Medicine in Neonatal Diabetes Mellitus: From Molecular Mechanisms to Clinical Management. [PDF]

Curr Issues Mol Biol
Meng Y, Zhu L, Dong G, Tang C.
europepmc   +1 more source

Wolfram Syndrome (DIDMOAD)

, 2004

core   +1 more source

Commentary: Clinical evaluation of pediatric olfactory disorders: a review from etiology to management. [PDF]

Front Allergy
Spencer GM, Bhargava EK.
europepmc   +1 more source