Results 171 to 180 of about 8,095,459 (275)

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

Top causes of visual impairment, satisfaction with eye care services, and associated factors among visually impaired patients attending an eye care center in Ethiopia. [PDF]

Sci Rep
Eticha BL, Wube BF, Addis Y, Birhan GS, Alemayehu BF, Eticha BL.   +5 more
europepmc   +1 more source

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source

Rapid sequential mixed-method study to identify barriers and explore solutions for improving equitable access to community-based eye care services in Uttar Pradesh, India. [PDF]

BMJ Open
Sabherwal S, Allen L, Javed M, Mazumdar A, Thaker N, Tlhajoane M, Rathore D, Singh A, Sood I, Bastawrous A.   +9 more
europepmc   +1 more source

An Evaluation of the Albuquerque Area Indian Health Service Optometric Services Provided to 19 Pueblo Indian Communities

, 2014
The Albuquerque Area Indian Health Service Optometry Program provides eye care services to a large Indian population comprised of twenty-six Indian Tribes.
Toya JL., Reid KL.
core  

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Beyond Nature's Blueprint: Macrocyclic Peptides Containing Unnatural Amino Acids in Therapeutic Development

Angewandte Chemie, EarlyView.
Strategic incorporation of unnatural amino acids transforms macrocyclic peptides into drug‐like molecules capable of engaging challenging targets. These building blocks enhance stability, permeability, and bioavailability, accelerating the development of next‐generation peptide therapeutics.
Krishna K. Sharma, Komal Sharma, Anku Sharma, Kamya Rao, Rahul Jain, Brett VanVeller   +5 more
wiley   +2 more sources

Commentary: Population-based assessment of barriers for the uptake of eye care services among elderly people: Findings from rapid assessment of visual impairment studies from Telangana, India. [PDF]

Indian J Ophthalmol, 2022
Kulkarni S.
europepmc   +1 more source

Other title: Kansas Department for Aging and Disability Services Adult Continuum of Care Committee; Other title: Adult Continuum of Care Committee

, 2016
application/pdf; "March 15, 2016."; Testimony before the Kansas Legislature, House Social Services Budget Committee, presented by Doug Wallace, KDADS Behavioral Health Services Commission, Kansas Department for Aging and Disability Services ...
Wallace, Douglas.
core  

Judicial Perspectives on Neurodiversity in Queensland Courts, Tribunals and Commissions: Experiences With Disclosure and Witness Credibility

Australian Journal of Social Issues, EarlyView.
ABSTRACT Little is known about the impacts of the disclosure, or the non‐disclosure, of medical conditions associated with neurodiversity in the context of court proceedings and hearings before tribunals and commissions. This paper examines the experiences of twenty‐three Queensland Judges, Magistrates, and Tribunal and Commission Members with ...
Danielle Bozin, Karen A. Sullivan, Vincent Denault, Catherine Kennon, Lucy Cradduck, Rachel Hews   +5 more
wiley   +1 more source