Results 211 to 220 of about 1,148,279 (386)

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Audiovisual estimation of Time-to-contact. [PDF]

Atten Percept Psychophys
Leblond S, Baurès R, Tardieu J, Cappe C.   +3 more
europepmc   +1 more source

Mechanisms and streams for processing of "what" and "where" in auditory cortex.

Proceedings of the National Academy of Sciences of the United States of America, 2000
J. Rauschecker, B. Tian
semanticscholar   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Cochlear Implant Electrode Migration due to Cholesterol Granuloma: Cues from a Case

Journal of International Advanced Otology, 2019
Andrea Di Laora, Isabelle Mosnier, Andrea Ciorba, Stefano Pelucchi, Olivier Sterkers, Daniele Bernardeschi   +5 more
doaj   +1 more source

Long-term effects of forty-hertz auditory stimulation as a treatment of Alzheimer's disease: Insights from an aged monkey model study. [PDF]

Proc Natl Acad Sci U S A
Wang W, Huang R, Lv L, Ma X, Li Z, Zhang Y, Wu J, Wu S, Xu J, Hu Y, Turck CW, Li H, Hu X.   +12 more
europepmc   +1 more source

Auditory pontine grey [PDF]

, 1991
Casseday, John H., Covey, Ellen, Schuller, Gerd   +2 more
core   +1 more source

Older adults’ emotion recognition: No auditory-visual benefit for less clear expressions

, 2022
Simone Simonetti, Chris Davis, Jeesun Kim   +2 more
openalex   +2 more sources

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

Paediatric auditory brainstem implant: How we do it. [PDF]

Acta Neurochir (Wien)
Kullar PJ, Freeman S, Rutherford S, Lloyd S, O'Driscoll M, Henderson L, Millward K, Pathmanaban O.   +7 more
europepmc   +1 more source