Results 171 to 180 of about 13,663,771 (328)

A comparison between the hearing thresholds determined by shiver-audiometry and Preyer reflex test

, 1978
Noguchi Yuji, Sukehiro Chiba
openalex   +1 more source

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

An fNIRS dataset for Multimodal Speech Comprehension in Normal Hearing Individuals and Cochlear Implant Users. [PDF]

Sci Data
Bálint A, Wimmer W, Rummel C, Caversaccio M, Weder S.   +4 more
europepmc   +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

Lip-Reading: Advances and Unresolved Questions in a Key Communication Skill. [PDF]

Audiol Res
Battista M, Collesei F, Orzan E, Fantoni M, Bottari D.   +4 more
europepmc   +1 more source

Gelle test in patients of Meniere's disease and fluctuating low tone hearing loss.

, 1989
Tetsuaki Kawase, Tomonori Takasaka, Jun Kusakari, Ryo Yuasa   +3 more
openalex   +2 more sources

Classroom Case Study: Cross Cultural Obstacles to the Referral of Aboriginal Children for Hearing Tests [PDF]

, 2006
Damien Howard
openalex   +1 more source

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

Hearing Screening in Private Family Practice Medicine Using Tablet Applications. [PDF]

Ann Fam Med
El Mouahidine M, Génin A, Venail F, Puel JL, Ceccato JC.   +4 more
europepmc   +1 more source

Early Diagnosis of Cerebello-Pontine Angle Tumors by Directional Hearing Test.

, 1994
Tsunemasa Satoh, Naohisa Iizuka, Katsuhiro Shimoda, Shinobu Nohara, Tatsuya Hasegawa, Tadao Konno   +5 more
openalex   +2 more sources