Results 181 to 190 of about 4,732,940 (379)

^*Medical and clinical audit on online databases [PDF]

, 1992
Dorothy Husband, Mark G. Field, Indi Munasingue   +2 more
openalex   +1 more source

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source

Standards of care revisited – medical audit in practice [PDF]

, 1991
Sara Johnston
openalex   +1 more source

Medical audit in North America.

British medical journal, 1972
I. Mcwhinney
semanticscholar   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Medical audit in a lithium clinic [PDF]

, 1991
Patrick O'Brien
openalex   +1 more source

Current Nationwide Landscape of Cardiac Surgery for Children With Trisomy 18 in Japan

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Despite the increasing number of retrospective cohorts describing successful cardiac surgery for children with trisomy 18, no consensus has been reached among healthcare providers regarding cardiac surgery in Japan. This study provided a benchmark to facilitate consensus building by assessing a nationwide surgical database in Japan. A total of
Shintaro Nemoto, Hisateru Tachimori, Tomoki Kosho, Kanta Kishi, Noboru Motomura, Yasutaka Hirata   +5 more
wiley   +1 more source

New National Network of Experts (Japan Pelvic Exenteration Network: J‐PEN) Formed in a Bid to Improve Outcomes of Pelvic Exenteration in Japan

Annals of Gastroenterological Surgery, EarlyView.
Hideaki Yano, Alex Mirnezami, Masataka Ikeda, Kay Uehara, Shuichiro Matoba, Yuichiro Tsukada, Toshiki Mukai, Kei Kimura, Yudai Fukui, Naoyuki Toyota   +9 more
wiley   +1 more source

Equitable Collaboration Between LMIC and HIC Researchers, Part I: A Preliminary Framework for Capacity Building in Psychiatric Genetics Research

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT International collaborations between high‐income countries (HICs) and low‐ and middle‐income countries (LMICs) have become increasingly essential in advancing global health, particularly within psychiatric research. These partnerships not only accelerate scientific discovery and enhance public health, but they also bring to light significant ...
Brenda Cabrera‐Mendoza, Margit Burmeister, Marcella Rietschel, David Crepaz‐Keay, Yatan Pal Singh Balhara, Soraya Seedat, Victoria Marshe, Sian Hemmings, Roseann Peterson, Ruchika Kaushik, Biju Viswanath, Reeteka Sud, Partha Haldar, Mandy Johnstone, Anish V. Cherian, Todd Lencz, Janneke Zinkstok, Renato Polimanti, Daniel J. Mueller, Gabriel Lázaro‐Muñoz, Chunyu Liu, Nurnberger John I, Humberto Nicolini, Consuelo Walss‐Bass, Marcos Santoro, Sujata Satapathy, Chittaranjan Behera, Anna R. Docherty   +27 more
wiley   +1 more source

Medical audits

Academic Medicine, 1979
openaire   +3 more sources