Results 241 to 250 of about 139,963 (293)

Rare Case with Pathogenic Variant in DHX16 Gene Causing Neuromuscular Disease and Oculomotor Anomalies. [PDF]

Int J Mol Sci
Kalampokini S, Goulis DG, Pepe G, Koukoula S, Frontistis A, Moschou M, Arnaoutoglou M, Papaliagkas V, Kimiskidis VK.   +8 more
europepmc   +1 more source

Efficacy and fibrinogen correlations of defibrinogen therapy in idiopathic sudden sensorineural hearing loss. [PDF]

Sci Rep
Wang B, Zhang W, Zhang J, Yang Q, Han B, Liu H, Zhao Z.   +6 more
europepmc   +1 more source

Early Haploidentical Hematopoietic Stem Cell Transplantation Provides Rapid Leukocyte and Immune Reconstitution in AK2 Patient Identified by TREC Newborn Screening. [PDF]

J Clin Immunol
Cicek A, Schuster FR, Boyle JO, Hoenig M, Meisel R, Ghosh S.   +5 more
europepmc   +1 more source

Cochlear Implant Challenges in Children with Ichthyosis: A Systematic Review. [PDF]

Genes (Basel)
Caragli V, Luppi L, Tegmeyer NC, Genovese E, Soloperto D.   +4 more
europepmc   +1 more source

Herpes simplex virus 2-induced aseptic meningitis presenting with sudden deafness: A case report.

World J Clin Cases
Liu YC, Hsiao SH, Chen PR.
europepmc   +1 more source

A deafness-blindness syndrome results from ATF6-based disruption of the unfolded protein response. [PDF]

J Clin Invest
Joshi Y, Savas JN.
europepmc   +1 more source

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Human Nonsyndromic Sensorineural Deafness

Annual Review of Genomics and Human Genetics, 2003
Given the unique biological requirements of sound transduction and the selective advantage conferred upon a species capable of sensitive sound detection, it is not surprising that up to 1% of the approximately 30,000 or more human genes are necessary for hearing. There are hundreds of monogenic disorders for which hearing loss is one manifestation of a
Thomas B. Friedman, Andrew J. Griffith
openaire   +3 more sources

Ocular albinism with sensorineural deafness

International Journal of Dermatology, 2004
Ocular albinism (OA) is an inherited disorder characterized by partial or complete absence of pigment in the eyes. Ocular albinism is inherited in two patterns, X‐linked and autosomal pattern. X‐linked OA includes type I OA (Nettership‐Falls type), type II OA (Forsius‐Eriksson type), and OA with late‐onset sensorineural deafness.
Seong-Jun Seo, Myeung Nam Kim, Woo-Jung Tak, Kye-Yong Song, Chang-Kwan Hong, Ro Bi   +5 more
openaire   +3 more sources

Mutation in The Nuclear‐Encoded Mitochondrial Isoleucyl–tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome

Human Mutation, 2014
Mutations in the nuclear‐encoded mitochondrial aminoacyl–tRNA synthetases are associated with a range of clinical phenotypes. Here, we report a novel disorder in three adult patients with a phenotype including cataracts, short‐stature secondary to growth
J. Schwartzentruber, D. Buhas, J. Majewski, F. Sasarman, Simon Papillon-Cavanagh, Isabelle Thiffaut, Katherine M. Sheldon, C. Massicotte, Lysanne Patry, M. Simon, A. Zare, K. McKernan, J. Michaud, R. Boles, C. Deal, V. Désilets, E. Shoubridge, M. Samuels   +17 more
semanticscholar   +1 more source

Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3‐Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh‐Like Syndrome) caused by novel mutations in SERAC1

American Journal of Medical Genetics. Part A, 2013
3‐Methylglutaconic aciduria (3‐MGCA) type IV is defined as a heterogeneous group of inborn errors featuring in common 3‐MGCA and associated with primary mitochondrial dysfunction leading to a spectrum of multisystem conditions.
O. Sarig, D. Goldsher, J. Nousbeck, D. Fuchs‐Telem, Ksenya Cohen-Katsenelson, T. Iancu, Irena Manov, Ann Saada, E. Sprecher, H. Mandel   +9 more
semanticscholar   +1 more source