Results 141 to 150 of about 13,663,771 (328)

Tests for hearing [PDF]

The Laryngoscope, 1929
openaire   +2 more sources

Normal hearing tests: is a further appointment really necessary?

Journal of the Royal Society of Medicine, 2007
G. Kumar, F. Amen, Dev Roy
semanticscholar   +1 more source

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

HEARING TESTS FOR YOUNG CHILDREN

, 1962
Minoru Tamura
openalex   +2 more sources

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

STUDIES ON HEARING TESTS FOR YOUNG CHILDREN

, 1965
Rrrsuo SOGABE
openalex   +2 more sources

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Screening for hearing and visual loss among elderly with questionnaires and tests: which method is the most convincing for action? [PDF]

, 2000
Just Eekhof, Geertruida H. de Bock, K. Schaapveld, Machiel P. Springer   +3 more
openalex   +1 more source

Electrophysiological Tests for Hearing [PDF]

Proceedings of the Royal Society of Medicine, 1975
openaire   +3 more sources

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source