Results 231 to 240 of about 703,175 (313)

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif, Ajay Kaul, Lev Dorfman, Khalil El‐Chammas   +3 more
wiley   +1 more source

Exploring Oral Health Challenges and Barriers to Dental Care Among Children in Cabo Verde: A Qualitative Study. [PDF]

Public Health Chall
Ilozumba O, Visser MW, de Soet JJH, Volgenant CMC.   +3 more
europepmc   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Dental Care Access Among Children and Adolescents With Autism Spectrum Disorder: A Cross Sectional Survey in Juiz de Fora, Brazil. [PDF]

Spec Care Dentist
Cardoso PM, Martins LC, Machado FC, Carrada CF, Scalioni FAR.   +4 more
europepmc   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Structural equation modeling of patient visit satisfaction in emergency dental care. [PDF]

BMC Oral Health
Shen L, Zhang S, Zhang L, Yang X.
europepmc   +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

Assessment of Dental Care Utilization Based on Health Information Literacy in Korean Adults. [PDF]

Dent J (Basel)
Lee SK, Seong JM.
europepmc   +1 more source