Results 121 to 130 of about 327,876 (344)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo +4 more
wiley +1 more source
'Keeping in Touch': Using the internet in speech and language therapy
International Journal of Integrated Care, 2014 Helen M Poole +6 more
doaj +3 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun +2 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Inherited retinal dystrophies (IRDs) inherited are visually disabling monogenic diseases with remarkable genetic and phenotypic heterogeneity. Mutations in more than 300 different genes have been identified as disease‐causing. The genetic diagnosis of IRDs has significantly advanced with the integration of Next Generation Sequencing (NGS ...
Gerardo E. Fabian‐Morales +6 more
wiley +1 more source
Hearing Impairment following Subtotal Electrolytic Lesions to the Auditory-Nerve Region of the Guinea Pig [PDF]
, 1967 Chester R. Wilpizeski +3 more
openalex +1 more source
Child with hearing impairment [PDF]
, 2018 Ця книжка призначена для багатьох родин, що стикаються з проблемою порушення слуху в дитини, а також для педагогів і вихователів інклюзивних навчальних закладів.
Жук, В.В. +3 more
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gastrointestinal (GI) symptoms are common in CHARGE syndrome, but their frequency and characteristics remain poorly documented due to the complex nature of CHARGE syndrome. This study aimed to determine the prevalence of GI issues in CHARGE syndrome and their impact on quality of life (QoL).
Annie Kakamousias, Kim Blake
wiley +1 more source
Predicting Hearing Impairment from A-Weighted Sound Levels [PDF]
, 1967 James H. Botsford
openalex +1 more source
Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders +11 more
wiley +1 more source
Dementia and Primary-Care Health Measures:Hearing, Gait, and Markers of Inflammation [PDF]
, 2015 Dementia is a syndrome associated with declining cognitive function that has a variety of types and causes, and is encountered frequently in general medical practice. Researchers are actively exploring possible risk factors for dementia. The St.
Lindgren, Elsa
core +1 more source