Results 151 to 160 of about 521,761 (340)

Challenges in Genomic Variant Interpretation Within Pakistani Populations due to Genomic Healthcare Inequalities

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Accurate classification of genomic variants is crucial to ensure correct diagnosis, genetic counseling, and clinical management of monogenic inherited disorders. Variant interpretation can be hindered in populations that are significantly underrepresented in large reference genomic databases, leading to genomic healthcare inequalities. Despite
Zantasha Khalid, Matthew Adams, Anees Muhammad, Raeesa Tehreen, Arfa Azeem, Asif Ahmed, Nishanka Ubeyratna, Claire G. Salter, Joseph S. Leslie, Nikol Voutsina, Emma L. Baple, Andrew H. Crosby, Sabika Firasat, Muhammad Tahir Sarwar, Shamim Saleha, Asma Gul, Lettie E. Rawlins   +16 more
wiley   +1 more source

Is the Ambulatory Care Educational Program for Trainees of Residency Program Adequate to Meet Their Post-Training Clinical Performance Needs?: Assessment in Family Practice Residency Program of Tertiary Hospital [PDF]

, 1970
Joon Seo Yoo, Yun Mi Song, Joo Yong Kim, Yoong Eun Kim, Ji Won Park, Hwee Su Jung   +5 more
openalex   +1 more source

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard   +2 more
wiley   +1 more source

Ambulatory behavior in the rat as a function of two methods of alcohol administration [PDF]

, 1970
Zalman Amit, Muriel H. Stern
openalex   +1 more source

An ITPR1 Variant in the IP3‐ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A de novo, missense variant in ITPR1‐inositol 1,4,5‐trisphosphate receptor type 1 (ITPR1), p.(Tyr567Cys), was identified by trio whole‐genome sequencing in an individual diagnosed with Spinocerebellar ataxia 29 (SCA29) who was affected by cerebral palsy and global developmental delay.
Thania Ordaz, Jagadish Chandrabose Sundaramurthi, Adam S. Arterbery, Anita M. Bagley, Michael A Gargano, Jeremy P Bauer, Daniel Danis, Philip Giampietro, Ellen Raney, Lauren Rekerle, Mallory Shingle, Jon R. Davids, Peter N. Robinson   +12 more
wiley   +1 more source

Ambulatory patient care

, 1966
Albert W. Snoke
openalex   +2 more sources

Incidence of symptomatic image‐confirmed venous thromboembolism in outpatients managed in a hospital‐led COVID‐19 virtual ward

eJHaem, 2021
Susan Shapiro, Karim Fouad Alber, Joshua Morton, George Wallis, Meriel Britton, Alex Bunn, Hashem Cheema, Saman Jalilzadeh Afshari, Ei Chae Zun Lin, Oliver Madge, Saniya Naseer, Esther Ng, Alexander Pora, Abbas Sardar, Andrew Brent, Daniel Lasserson   +15 more
doaj   +1 more source

Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The National Institute of Health (NIH) Undiagnosed Diseases Program (UDP) is an NIH project with the goal of providing both a comprehensive diagnosis and a better understanding of the many mechanisms of disease for patients with rare and undiagnosed conditions.
Dee Adedipe, Audrey Thurm, Lisa Joseph, Maria T. Acosta, Ellen F. Macnamara, Colby Chlebowski, Riley Kessler, Precilla D'Souza, Lynne Wolfe, Jean M. Johnson, Tyra Estwick, John Yang, Paul R. Lee, Jennifer Murphy, Camilo Toro, Thomas Markello, Dennis Carter, David R. Adams, William A. Gahl, Cynthia J. Tifft   +19 more
wiley   +1 more source

Balancing Service and Safety

JACC: Case Reports, 2020
Ahmed N. Khan, MD, Karan Desai, MD, Adam Zviman, MD, Susie N. Hong, MD, Manjula Ananthram, MBBS, Stanley Liu, MD, Mukta C. Srivastava, MD, Michael Benitez, MD, Charles C. Hong, MD, PhD, Timm M. Dickfeld, MD, Alejandro Jimenez Restrepo, MD   +10 more
doaj   +1 more source

Anaesthesia for ambulatory surgery [PDF]

, 1978
Jean-Paul Dechêne
openalex   +1 more source