Results 151 to 160 of about 109,929 (262)

Overlap of Congenital Deafness and Long QT Syndrome With Distinct Genetic Basis: A Diagnostic Challenge. [PDF]

JACC Case Rep
Pirah R, Ali A, Qadir F, Mumtaz Z, Alam M, Mohsin M.   +5 more
europepmc   +1 more source

Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB‐Related Neurocutaneous Disease Spectrum

Clinical Genetics, EarlyView.
We describe a previously unreported phenotype related to postzygotic ACTB variants with hypomelanosis of Ito, characterized by hypopigmentation associated or not with neurodevelopmental features, distinct from Becker presentations, bridging constitutional neurodevelopmental and somatic cutaneous phenotypes.
Estella Castillon, Paul Rollier, Didier Bessis, Laurent Pasquier, Caroline Racine, Alexis Praga, Pierre Vabres, Bertille Bonniaud, Paul Kuentz, Laurence Faivre   +9 more
wiley   +1 more source

Correction: The night is dark and full of hesitation. The latest step in the legal trajectory of assisted suicide in Italy: through tentative judicial openings, bioethical contradictions and the Parliament's deafness. [PDF]

Front Pharmacol
Frontiers Production Office.
europepmc   +1 more source

Connexin 26 in Hearing Health and Disease: StructuralFoundations, Mutation Mechanisms, and Therapeutic Perspectives. [PDF]

Int J Mol Sci
Qiu W, Schneider K, Guo Y.
europepmc   +1 more source

The Last Course Revisited: Reflections on Policy, Praxis, and Protest

Culture, Agriculture, Food and Environment, EarlyView.
ABSTRACT This article is a personal reflection on how SAFN addressed my academic identity crisis in the late 70s. The development of the anthropology of food and nutrition provided opportunities to refashion disciplinary praxis and to link the little and the large in interesting ways.
Penny Van Esterik
wiley   +1 more source

Leveraging Whole-Exome Sequencing to Decipher the Genetic Landscape of Three Genodermatoses' Cases in Middle Eastern Pediatric Patients. [PDF]

Genes (Basel)
Kadhi A, Akl PA, Abbas O, El-Tayar E, Nemer G, Kurban M.   +5 more
europepmc   +1 more source

Juvenile functional deafness. Psychogenic deafness and examination deafness.

Otology Japan, 1992
Shimada, Hitoshi, Okada, Mayumi, Baba, Kaaro   +2 more
openaire   +1 more source

Longitudinal speech and gross motor function development in children and adolescents with cerebral palsy

Developmental Medicine &Child Neurology, EarlyView.
Aim To examine longitudinal changes in speech and gross motor function in children with cerebral palsy (CP) between 4 years and 14 years of age using the Viking Speech Scale (VSS) and the Gross Motor Function Classification System (GMFCS). Method In this longitudinal observational study, 44 children (26 male, 18 female) with CP were assessed at ages 4 ...
Sydney A. Jensen, Katherine C. Hustad
wiley   +1 more source

Impact of hyperbaric oxygen as initial treatment on idiopathic sudden sensorineural hearing loss prognosis: a propensity scores matching analysis. [PDF]

Braz J Otorhinolaryngol
Xie S, Hong W, Huang L, Hong Y.
europepmc   +1 more source

The Politics of Deafness

, 1996
Wrigley, Owen
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