Results 211 to 220 of about 777,793 (338)

Syndrome of the Month: Bosma Arhinia Microphthalmia Syndrome

American Journal of Medical Genetics Part A, EarlyView.
Katherine J. K. Patterson, John M. Graham Jr, Natalie D. Shaw   +2 more
wiley   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

Improved Speech Recognition in Adults With Conductive or Mixed Hearing Loss Using a Direct-to-Consumer Bone-Conduction Device: A Multiple Methods Intervention Study. [PDF]

JMIR Rehabil Assist Technol
Hampton T, Fletcher M, Sanderson A, Loureiro M, Mortimer K, Bhutta MF.   +5 more
europepmc   +1 more source

The Law and Practice of Connecticut concerning Hearing in Damages on Default, or Demurrer Overruled [PDF]

, 1897
John W. Alling
openalex   +1 more source

Further Evidence That Chondrocalcinosis 1 (CCAL1) is a Confirmed Mendelian Phenotype With a Known Molecular Basis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Chondrocalcinosis (CCAL), also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), is a frequent multifactorial condition in the elderly, but there are two rare autosomal dominant Mendelian forms, CCAL1 (OMIM %600668) and CCAL2. Only three families with molecularly proven CCAL1 have been reported.
Anna‐Christina Pansa, Mareike Selig, Markus Wingendorf, Matthew A. Brown, Oliver Bartsch   +4 more
wiley   +1 more source

An Embedded Mixed-Methods Study with a Dominant Quantitative Strand: The Knowledge of Jordanian Mothers About Risk Factors for Childhood Hearing Loss. [PDF]

Audiol Res
Altamimi S, Tawalbeh M, Al Tamimi OS, Al-Shatanawi TN, Jarrar SA, Al Zoubi EK, Altamimi AS, Almomani E.   +7 more
europepmc   +1 more source

Case of a Deaf Mute, Aged 11, Who is Apparently Regaining Her Hearing [PDF]

, 1908
Louise Lawrence
openalex   +1 more source

Hearing Impairment and Incident Dementia and Cognitive Decline in Older Adults: The Health ABC Study

The journals of gerontology. Series A, Biological sciences and medical sciences, 2016
J. Deal, J. Betz, K. Yaffe, T. Harris, Elizabeth Purchase-Helzner, S. Satterfield, S. Pratt, Nandini Govil, E. Simonsick, F. Lin   +9 more
semanticscholar   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Psychometric Properties of a 17-Item German Language Short Form of the Speech, Spatial, and Qualities of Hearing Scale and Their Correlation to Audiometry in 97 Individuals with Unilateral Menière's Disease from a Prospective Multicenter Registry. [PDF]

J Clin Med
Spiegel JL, Lehnert B, Schuller L, Adler I, Rader T, Brzoska T, Weiss BG, Canis M, Busch CJ, Ihler F.   +9 more
europepmc   +1 more source