Results 91 to 100 of about 426 (217)
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy +16 more
wiley +1 more source
Logi Buds : Hearable for new Experiences
, 2020 Technology plays a big part in our lives, and our phones give us access to it anytime and anywhere. As technology becomes more and more integrated into everything we do, it can sometimes distract us from the things that matter the most to us. Logi Buds is a hearable concept made to bring in new experiences that could help reduce screen dependency in ...
openaire +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Offensive, hateful comment: A networked discourse practice of blame and petition for justice during COVID-19 on Chinese Weibo. [PDF]
Discourse Stud, 2023 Jin Y, Tay D.
europepmc +1 more source
HEAR-BRUX: HEARable for handling BRUXism
Bruxism is a parafunctional oral behavior that can occur during sleep (sleep bruxism) or wakefulness (awake bruxism). Bruxism is characterized by teeth grinding and jaw clenching. It can lead to various health consequences such as tooth fracture, tooth wear, and muscle fatigue.
openaire +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu +23 more
wiley +1 more source
Expanding the Utility of Exome Sequencing in Preventive and Population Genetics
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas +6 more
wiley +1 more source
PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda +5 more
wiley +1 more source
Health-Related Indicators Measured Using Earable Devices: Systematic Review. [PDF]
JMIR Mhealth Uhealth, 2022 Choi JY +6 more
europepmc +1 more source