Results 221 to 230 of about 141,941 (296)

Connexin 30 (GJB6) deletion as a cause of a false positive sweat test result. [PDF]

Eur J Pediatr
Rossell A, Soler-Garcia A, Martorell L, Claveria MA, Valero L, Rodríguez S, Badenas C, Cols-Roig M.   +7 more
europepmc   +1 more source

The Responsibiligated Status: Exploring the Experiences of Hearing Children With Deaf Parents

Child &Family Social Work, EarlyView.
ABSTRACT An individual with a disability influences every member of a family. While research on families with children with disabilities is extensive, studies focusing on families with parents with disabilities remain limited. A common situation in the deaf community is a family with deaf parents and hearing children.
Carolina Tannenbaum‐Baruchi, Limor Aharonson‐Daniel, Paula Feder‐Bubis   +2 more
wiley   +1 more source

Minimally Invasive Aortic Valve Replacement in Osteogenesis Imperfecta: A Case Report. [PDF]

Surg Case Rep
Takashima N, Yokoyama C, Tanaka T, Matsui S, Chimada BY, Okuda S, Matsubayashi Y, Miyashita F, Suzuki T.   +8 more
europepmc   +1 more source

PIK3C2A‐Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect

Clinical Genetics, EarlyView.
Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam, Clarisse Delvallée, Bénédicte Gérard, Elodie Javey, Pascal Kessler, Valérie Pelletier, Jean‐Baptiste Lamouche, Nicolas Le May, Jean Muller, Hélène Dollfus   +9 more
wiley   +1 more source

Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity

Clinical Genetics, EarlyView.
A novel case is herein described to expand the genetic and clinical spectrum of WDR91 and characterize a previously unrecognized autosomal recessive neurodevelopmental disorder. WDR91 deficiency results in neuronal loss, cortical thinning, and impaired brain development.
Nikolaos M. Marinakis, Afrodite Kampouraki, Danai Veltra, Faidon‐Nikolaos Tilemis, Maria Vasilopoulou, Aikaterini Dokou, Elissavet Georgiadou, Euthalia Karavergou, Maria Christolouka, Alexis Alexopoulos, Dimitra Kirillidi, Maria Goudesidou, Konstantina Kosma, Christalena Sofocleous, Periklis Makrythanasis   +14 more
wiley   +1 more source

Novel Pathogenic Variant Confirms the Association of REST and Jones Syndrome

Clinical Genetics, EarlyView.
Jones syndrome (JS) is an ultra‐rare condition characterized by gingival fibromatosis and progressive sensorineural hearing loss. It has been associated with a pathogenic REST exon‐5 variant (c.2670_2673del) in a Finnish family. We describe the first Italian family with JS in which a novel pathogenic REST exon‐5 variant (c.2645T>G) was identified ...
Valentina Lodato, Massimo Galli, Giacomo D'Angeli, Irene Bottillo, Luca Celli, Rosaria Turchetta, Andrea Colizza, Francesca Gianno, Biagio Palmisano, Francesca Romana Federici Stanganelli, Maria Rita Bianco, Daniela Messineo, Eugenia Allegra, Paola Grammatico, Mara Riminucci, Alessandro Corsi   +15 more
wiley   +1 more source

Sudden Deafness following Scald to Membrana Tympani by Steam

, 1913
H. J. Davis
openalex   +1 more source

Hearing and Deafness

Neurobiology of Disease, 2000
openaire   +4 more sources

Auricular Point Sticking for Patients with Sudden Sensorineural Hearing Loss: A Propensity Score Matching Analysis. [PDF]

Int J Gen Med
Ma D, Qian Q, Fan Y, Zuo Y, Ye L, Chen Y.   +5 more
europepmc   +1 more source

Deafness associated with the Stigmata of Degeneration.

, 1919
Hugh E. Jones
openalex   +1 more source