Results 171 to 180 of about 343,780 (303)

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

Combined effect of self-perceived voice disorders and hearing loss on social acts in older adults: a 1-year longitudinal study. [PDF]

J Phys Ther Sci
Nishimura I, Fujii Y, Yoon J, Okura T.
europepmc   +1 more source

“It's Not Deterministic and It Will Never Be Deterministic”: A Qualitative Study on Stakeholder Perspectives of Polygenic Risk Score Testing for Post‐Traumatic Stress Disorder

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Post‐traumatic stress disorder (PTSD) causes significant mental and physical distress, yet only a small subset of individuals exposed to trauma develop the disorder. Scientists and clinicians are still unable to predict who will get the disorder or how it will manifest.
Brandy M. Fox
wiley   +1 more source

Acoustic Reflections of Vocal Adjustments Elicited With a Standard Reading Passage: Effect of Voice Disorders. [PDF]

J Speech Lang Hear Res
Wu CH, Chan RW, Chiang YN, Hsieh LC, Hunter EJ.   +4 more
europepmc   +1 more source

Continuous Speech for Improved Learning Pathological Voice Disorders. [PDF]

IEEE Open J Eng Med Biol, 2022
Wang SS, Wang CT, Lai CC, Tsao Y, Fang SH.   +4 more
europepmc   +1 more source

Convergent evidence for a pitch deficit in hyperfunctional voice disorders. [PDF]

JASA Express Lett
Best V, Duque T, Abur D, Stepp CE.
europepmc   +1 more source

The prevalence and risk factors for perceived voice disorders in public school teachers. [PDF]

Laryngoscope Investig Otolaryngol, 2022
Feng S, Weng C, Cai S, Yang Z, Wu M, Kang N.   +5 more
europepmc   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Differentiability of voice disorders through explainable AI. [PDF]

Sci Rep
Özcan F.
europepmc   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source