Results 171 to 180 of about 325,838 (344)
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
Noise Management at Work [PDF]
Every single day millions of European workers are exposed to noise at work. One in five of European’s workers have to raise his voice to be heard for at least half of the time that there are at work and 7% suffer from work-related hearing impairment.
Isabel Lopes Nunes +1 more
core +1 more source
A Report of the Hearing Impaired Children Started Training Before Two Years Old
, 1969 Akira Totoki
openalex +2 more sources
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
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
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
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart +6 more
wiley +1 more source
The role of platelet-rich plasma in biomedicine: A comprehensive overview
iScienceSummary: Biomedicine has seen significant advancements in the 21st century, with platelet-rich plasma (PRP) playing a crucial role in clinical practice.
Zhixin Zhang +11 more
doaj
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 +16 more
wiley +1 more source
Hearing impairment and dementia: cause, catalyst or consequence? [PDF]
J NeurolLevett BA +15 more
europepmc +1 more source