Results 201 to 210 of about 777,793 (338)

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

Long-term prognosis of preserved hearing function after surgery in patients with cerebellopontine angle tumors other than vestibular schwannoma. [PDF]

Acta Neurochir (Wien)
Ichimasu N, Kohno M, Nakajima N, Matsunaga K, Matsushima K, Tsukahara K.   +5 more
europepmc   +1 more source

Hallucinations of Hearing [PDF]

, 1888
U. O. B. Wingate
openalex   +1 more source

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

Sudden Sensorineural Hearing Loss in an Immunocompetent Patient With West Nile Encephalitis. [PDF]

Laryngoscope Investig Otolaryngol
Malhotra R, Schmitt B, Tyler K, Agrawal Y.   +3 more
europepmc   +1 more source

Oceanography in the United States. Hearings before the Special Subcommittee on Oceanography of the Committee on Merchant Marine and Fisheries, House of Representatives, Eighty-sixth Congress, first[-second] session

, 1959

openalex   +2 more sources

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher, Orli Greenberg, Patrick Shannon, Andrea Staines, Bobbi McGivern, Melanie Patricia Napier, David Chitayat   +6 more
wiley   +1 more source

Effects of mild-to-moderate sensorineural hearing loss and signal amplification on vocal emotion recognition in middle-aged-older individuals. [PDF]

PLoS One
Ekberg M, Andin J, Signoret C, Stenfelt S, Dahlström Ö.   +4 more
europepmc   +1 more source

XVII. Mechanical Aids to Hearing [PDF]

, 1911
Percy Fridenberg
openalex   +1 more source

Congenital hearing loss

Nature Reviews Disease Primers, 2017
A. Korver, Richard J. H. Smith, G. Camp, M. Schleiss, M. Bitner-Glindzicz, L. Lustig, S. Usami, A. Boudewyns   +7 more
semanticscholar   +1 more source