Results 171 to 180 of about 2,201,996 (338)

Titanium Prostheses for Treating Posttraumatic Ossicular Chain Disruption

open access: yesJournal of International Advanced Otology, 2022
Lukasz Plichta   +4 more
doaj   +1 more source

Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cousin syndrome is a rare skeletal dysplasia characterized by distinctive facial features, humeroradial synostosis, and hypoplasia of the ilia and scapula. Since the original description of the phenotype in two cases by Cousin in 1982, only three additional cases have been published.
Suzanne E. L. Detiger   +3 more
wiley   +1 more source

Results of Hearing Screening in School-Age Children from Rural Areas of the Kujawsko– Pomorskie Region in Poland

open access: yesJournal of International Advanced Otology, 2022
Elzbieta Gos   +7 more
doaj   +1 more source

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim   +2 more
wiley   +1 more source

Central auditory processing disorder (CAPD) tests in a school-age hearing screening programme – analysis of 76,429 children

open access: yesAnnals of Agricultural and Environmental Medicine, 2015
[b]Introduction and objective[/b]. Hearing disorders among school-age children are a current concern. Continuing studies have been performed in Poland since 2008, and on 2 December 2011 the EU Council adopted Conclusions on the Early Detection and ...
Piotr H. Skarzynski   +8 more
doaj  

Down Syndrome in Maternity Care: Mothers' Experiences of Prenatal Screening

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prenatal screening for Down syndrome (DS) is offered to expectant parents receiving antenatal care in many countries, with an emphasis on providing parents with the opportunity to make informed choices about their pregnancy. We examined experiences of prenatal screening among mothers of children with DS living in England, Scotland, or Wales ...
Tamar Rutter   +5 more
wiley   +1 more source

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