Results 131 to 140 of about 3,268,367 (324)

Phenotypical and Genotypical Expansion of Autosomal‐Dominant KDM1A‐Related Neurodevelopmental Disorder Spectrum: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, Katrin Hinderhofer, Christian P. Schaaf, Markus Ries, Maja Hempel   +6 more
wiley   +1 more source

The audiogram: Detection of pure-tone stimuli in ototoxicity monitoring and assessments of investigational medicines for the inner ear. [PDF]

J Acoust Soc Am, 2022
Le Prell CG, Brewer CC, Campbell KCM.
europepmc   +1 more source

Hearing Disorders in Experimental Alloxan Diabetes

, 1978
Takeo Iida, Hitoshi Saitô, Hiroshi Sakagami   +2 more
openalex   +2 more sources

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Speech-in-noise testing: Innovative applications for pediatric patients, underrepresented populations, fitness for duty, clinical trials, and remote services. [PDF]

J Acoust Soc Am, 2022
Sanchez VA, Arnold ML, Moore DR, Clavier O, Abrams HB.   +4 more
europepmc   +1 more source

Hearing disorder and manual communication.

, 1987
Hideo Imai
openalex   +2 more sources

Hearing and vestibular deficits in the Coch null mouse model: Comparison to the Coch mouse and to DFNA9 hearing and balance disorder [PDF]

, 2010
Sherri M. Jones, Nahid G. Robertson, Shelly Given, Anne B.S. Giersch, M. Charles Liberman, Cynthia C. Morton   +5 more
openalex   +1 more source

Depression Symptom Trajectories in Mothers With the FMR1 Premutation Vary by CGG Repeat Length: A Longitudinal Study of 73 Women Spanning 20–75 Years of Age

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (FXpm) are at heightened genetic vulnerability for depression, with risk compounded by the stressors of parenting a disabled child. Although risk factors persist as FXpm women age, depression in FXpm mothers during midlife and old age is poorly characterized. This study used an accelerated longitudinal design to
Jessica Klusek, Lauren Jenner, Abigail L. Hogan, Laura Friedman, Elizabeth Berry‐Kravis, Flora Tassone, Tatyana Adayev, Amanda J. Fairchild, Jane E. Roberts   +8 more
wiley   +1 more source

The Natural History of Hearing Disorders in Asymptomatic Congenital Cytomegalovirus Infection. [PDF]

Front Pediatr, 2020
Salomè S, Giannattasio A, Malesci R, Marciano E, Dolce P, Portella G, Continisio GI, Di Costanzo P, Capone E, Coppola C, Capasso L, Raimondi F.   +11 more
europepmc   +1 more source

Prognostic correlation among facial nerve palsy, hearing impairment, and vestibular disorder in Ramsay Hunt syndrome.

, 1986
Yoshiaki Nakao, Akira Shimamoto, SHIGERU IMAZATO, Hidehaku Kumagami   +3 more
openalex   +2 more sources