Results 211 to 220 of about 2,016,016 (377)

Seminoma arising in a true hermaph-rodite with normal male external genitalia

, 2004
Kim Mammen, Abraham Kurien, Sunitha Jacob   +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

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

Molecular genetic cascades for external genitalia formation: An emerging organogenesis program

, 2006
Gen Yamada, Kentaro Suzuki, Ryuma Haraguchi, Shinichi Miyagawa, Yoshihiko Satoh, Mika Kamimura, Naomi Nakagata, Hiroaki Kataoka, Atsushi Kuroiwa, Yanqing Chen   +9 more
openalex   +1 more source

A case of squamous cell carcinoma on the external genitalia in the oldest old: A struggle for the choice of appropriate therapy

, 2007
E. Homma, Satoru Aoyagi, Yukiko Nomura, Hiroo Hata, Hiroko Itô, Hiroshi Shimizu   +5 more
openalex   +2 more sources

Burns of the external genitalia with potassium permanganate in the treatment of vulvovaginitis [PDF]

, 2017
Martina Velíšková, Leoš Teslík
openalex   +1 more source

Characterization of Female External Genitalia and Eggs of Four South American Species of the Triatoma Laporte, 1832 Genus (Hemiptera: Reduviidae: Triatominae). [PDF]

Insects, 2021
Belintani T, Oliveira J, Pinotti H, Alevi KCC, Nascimento JD, Sasso-Cerri E, Galvão C, Aristeu da Rosa J.   +7 more
europepmc   +1 more source

Coverage of External Genitalia and Perineal Defects after the Fournier’s Gangrene

, 2022
A. Chfiri, Amine Moataz, A. Jalal, S. Karti, C. Dibingue, M. Aalaoui, A Harti, M Dakir, A. Debbagh, Rachid Aboutaieb, Mounia Diouri   +10 more
openalex   +2 more sources

Studies of Neotropical caddisflies, XII: Rhyacophilidae, Glossosomatidae, Philopotamidae, and Psychomyiidae from the Amazon Basin (Trichoptera)

, 1971
Based primarily on colleçtions of FITTKAU and MARLIER, adults of the Amazonian species in four families of Trichoptera are described and figured. Keys are provided to the Latin American families (except those exclusively Chilean), potentially Amazonian ...
Flint, O.
core  

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote, Sheetal R. Patel, Kristian Havmand Mortensen, Isabel Witvrouwen, Anthonie Duijnhouwer, Nicole M. Brown, Jasmine Grewal, Kathryn C. Chatfield, Aaron T. Dorfman, Siddharth K. Prakash   +9 more
wiley   +1 more source