Search Results - "genetic testing"

Acute myocardial infarction-like event in a young patient with biventricular arrhythmogenic cardiomyopathy by Y. V. Stavtseva, E. A. Mershina, T. V. Lobzhanidze, E. I. Bazdireva, N. I. Khutsishvili, Zh. D. Kobalava

Connect to this object online.

Sudden cardiac arrest in a child with Gitelman syndrome: a case report and literature review by Jakub Zieg, Terezia Tavačová, Miroslava Balaščáková, Petra Peldová, Filip Fencl, Peter Kubuš

Connect to this object online.

A child with hyperferritinemia: Case report by Sandri Alessandro, Roetto Antonella, Longo Filomena, Serra Melania, Piga Antonio

Connect to this object online.

Effectiveness of cardiac arrest prevention during exercise by Takeru Abe

Connect to this object online.

A Novel De Novo Missense Mutation in HNF4A Resulting in Sulfonylurea-Responsive Maturity-onset Diabetes of the Young by Sezer Acar, Ayhan Abacı, Korcan Demir, Taha Reşid Özdemir, Berk Özyılmaz, Ece Böber

Connect to this object online.

An Early Case of Complete Androgen Insensitivity Syndrome by Leen Matalka MD, S. Joy Dean MD, Giovanna Beauchamp MD, Bhuvana Sunil MD

Connect to this object online.

Assessment of the current status of real-world pharmacogenomic testing: informed consent, patient education, and related practices by Lucas Pereira, Lucas Pereira, Cyrine-Eliana Haidar, Susanne B. Haga, Anna G. Cisler, April Hall, April Hall, Sanjay K. Shukla, Scott J. Hebbring, Emili J. W. Leary

Connect to this object online.

Hemolytic Anemia due to Glucose 6 Phosphate Dehydrogenase Deficiency Triggered by Type 1 Diabetes Mellitus by Burçe Orman, Semra Çetinkaya, Nergiz Öner, Meltem Akçaboy, Ali Fettah, Naz Güleray Lafcı, Şenay Savaş Erdeve

Connect to this object online.

Severe Hemolytic Jaundice in a Neonate with a Novel COL4A1 Mutation by Seiichi Tomotaki, Hiroshi Mizumoto, Takayuki Hamabata, Akira Kumakura, Mitsutaka Shiota, Hiroshi Arai, Kazuhiro Haginoya, Daisuke Hata

Connect to this object online.

Huntington's Disease and Striatal Signaling by Emmanuel eRoze, Emmanuel eRoze, Emma eCahill, Elodie eMartin, Cecilia eBonnet, Peter eVanhoutte, Sandrine eBetuing, Jocelyne eCaboche

Connect to this object online.

Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation by Xiaojiao Wu, Xiaojiao Wu, Jiancheng Jiao, Jiancheng Jiao, Yaofang Xia, Yaofang Xia, Xiaotong Yan, Xiaotong Yan, Zehao Liu, Zehao Liu, Yanyan Cao, Yanyan Cao, Li Ma, Li Ma

Connect to this object online.

Solitary median maxillary central incisor: A case report with 3-year follow-up and literature review by Triveni Mohan Nalawade, Rachappa M Mallikarjuna, H P Suma Sogi, Kishore G Bhat, Vijay M Kumbar

Connect to this object online.

Wolcott-Rallison Syndrome, a Rare Cause of Permanent Diabetes Mellitus in Infants-Case Report by Alexandru-Ștefan Niculae, Claudia Bolba, Alina Grama, Alexandra Mariş, Laura Bodea, Simona Căinap, Alexandra Mititelu, Otilia Fufezan, Tudor Lucian Pop

Connect to this object online.

Residual NADPH Oxidase Activity and Isolated Lung Involvement in X-Linked Chronic Granulomatous Disease by Maria J. Gutierrez, George D. McSherry, Faoud T. Ishmael, Alexandra A. Horwitz, Gustavo Nino

Connect to this object online.

Expanding the search for germline pathogenic variants for breast cancer. How far should we go and how high should we jump? The missed opportunity! by Hikmat Abdel-Razeq

Connect to this object online.

SETD5 gene mutation as the cause of short stature by Aleksandra Maria Roztoczyńska, Dorota Roztoczyńska, Antoni Pyrkosz, Artur Mazur

Connect to this object online.

Hereditary Systemic Autoinflammatory Diseases: Therapeutic Stratification by Ovgu Kul Cinar, Ovgu Kul Cinar, Amber Putland, Karen Wynne, Despina Eleftheriou, Despina Eleftheriou, Despina Eleftheriou, Paul A. Brogan, Paul A. Brogan

Connect to this object online.

Papulopustular Dermatitis in X-Linked Chronic Granulomatous Disease by Puja Sood Rajani, Maria A. Slack

Connect to this object online.

SMARCA4 germline gene mutation in a patient with epithelial ovarian: A case report by Reshma Muppala, Talia Donenberg, Marilyn S. Huang, Matthew P. Schlumbrecht

Connect to this object online.

Hypokalemic periodic paralysis; two different genes responsible for similar clinical manifestations by Hunmin Kim, Hee Hwang, Hae Il Cheong, Hye Won Park

Connect to this object online.