Results 131 to 140 of about 141,924 (306)

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, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

LA COMPETENCIA ODONTOLÓGICA DEL PROCESO DE CONSENTIMIENTO INFORMADO DURANTE LA FORMACIÓN DE GRADO EN URUGUAY

Odontoestomatología
Entre los contenidos requeridos para adquirir competencias ético-legales en la enseñanza odontológica se acordó el Proceso de Consentimiento Informado (PCI).
Ricardo MIGUEL, Inés Teresa SALVERAGLIO, Martín Gastón ZEMEL, Sylvia PIOVESAN, Laura Alejandra COCCO   +4 more
doaj  

ADA Constitution & Bylaws (1957)

, 1957
The ADA Commons Constitution & Bylaws archival collection comprises printed issues of the American Dental Association\u27s Constitution and Bylaws.
American Dental Association
core  

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

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, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

ADA Constitution & Bylaws (1926)

, 1926
The ADA Commons Constitution & Bylaws archival collection comprises printed issues of the American Dental Association\u27s Constitution and Bylaws.
American Dental Association
core  

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

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, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

ADA Constitution & Bylaws (1929)

, 1929
The ADA Commons Constitution & Bylaws archival collection comprises printed issues of the American Dental Association\u27s Constitution and Bylaws.
American Dental Association
core  

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, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Underemployment and Job Quality Among Young Australians: A Gendered Analysis Using the HILDA Survey (2009–2022)

Australian Journal of Social Issues, EarlyView.
ABSTRACT Over almost two decades, young people's employment opportunities have been significantly impacted by events like the Global Financial Crisis (2008–2009) and the COVID‐19 pandemic (2020‐). Thus, underemployment has become a more pervasive and persistent feature of young people's labour market experiences. This research focuses on three forms of
Brendan Churchill
wiley   +1 more source

ADA Constitution & Bylaws (1990)

, 1990
The ADA Commons Constitution & Bylaws archival collection comprises printed issues of the American Dental Association\u27s Constitution and Bylaws.
American Dental Association
core