The Application of Clinical Genetics
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scholarly journals HLA-DQA1 and HLA-DQB1 Gene Polymorphism in Indonesian Children with Type I Diabetes Mellitus

2022 ◽  
Vol Volume 15 ◽  
pp. 11-17
Author(s):  
. Soetjipto ◽  
Nur Rochmah ◽  
Muhammad Faizi ◽  
Yuni Hisbiyah ◽  
Anang Endaryanto
Keyword(s):  
Diabetes Mellitus ◽  
Gene Polymorphism ◽  
Type I Diabetes ◽  
Type I Diabetes Mellitus ◽  
Type I ◽  
Dqb1 Gene ◽  
Hla Dqa1

scholarly journals Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome

2022 ◽  
Vol Volume 15 ◽  
pp. 1-10
Author(s):  
Viktoriia Zabnenkova ◽  
Olga Shchagina ◽  
Olga Makienko ◽  
Galina Matyushchenko ◽  
Oxana Ryzhkova
Keyword(s):  
Compound Heterozygous ◽  
Gorlin Syndrome ◽  
Compound Heterozygous Variants ◽  
Russian Patient

scholarly journals Preimplantation Genetic Diagnosis for DEB by Detecting a Novel Family-Specific COL7A1 Mutation in Vietnam

2021 ◽  
Vol Volume 14 ◽  
pp. 467-472
Author(s):  
Sang Trieutien ◽  
Tam Vu Van ◽  
My Tran Ngoc Thao ◽  
Son Trinh The ◽  
Khoa Tran Van ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis

scholarly journals First Two Case Reports of Becker’s Type Myotonia Congenita in Colombia: Clinical and Genetic Features

2021 ◽  
Vol Volume 14 ◽  
pp. 473-479
Author(s):  
Jorge Andres Olave-Rodriguez ◽  
Francisco Javier Bonilla-Escobar ◽  
Estephania Candelo ◽  
Lisa Ximena Rodriguez-Rojas
Keyword(s):  
Case Reports ◽  
Myotonia Congenita ◽  
Genetic Features

scholarly journals Novel Genetic Causes of Gastrointestinal Polyposis Syndromes

2021 ◽  
Vol Volume 14 ◽  
pp. 455-466
Author(s):  
Anne Marie Jelsig ◽  
Anna Byrjalsen ◽  
Majbritt Busk Madsen ◽  
Tine Plato Kuhlmann ◽  
Thomas van Overeem Hansen ◽  
...  
Keyword(s):  
Gastrointestinal Polyposis ◽  
Genetic Causes ◽  
Polyposis Syndromes

scholarly journals Osteopontin Gene Polymorphisms rs1126616 C>T and rs1126772 A>G are Associated with Atopic Dermatitis in Polish Population

2021 ◽  
Vol Volume 14 ◽  
pp. 417-425
Author(s):  
Beata Kaleta ◽  
Mieszko Lachota ◽  
Jacek Łukaszkiewicz ◽  
Anna Woźniacka ◽  
Jarosław Bogaczewicz
Keyword(s):  
Atopic Dermatitis ◽  
Gene Polymorphisms ◽  
Polish Population

scholarly journals Genetic Testing in CYLD Cutaneous Syndrome: An Update

2021 ◽  
Vol Volume 14 ◽  
pp. 427-444
Author(s):  
Nikoletta Nagy ◽  
Anna Dubois ◽  
Marta Szell ◽  
Neil Rajan
Keyword(s):  
Genetic Testing

scholarly journals Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy

2021 ◽  
Vol Volume 14 ◽  
pp. 399-408
Author(s):  
Paula Triana-Fonseca ◽  
Juan Fernando Parada-Márquez ◽  
Claudia T Silva-Aldana ◽  
Daniela Zambrano-Arenas ◽  
Laura Lucia Arias-Gomez ◽  
...  
Keyword(s):  
Dystrophin Gene ◽  
Genetic Profile ◽  
New Mutations

scholarly journals A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report

2021 ◽  
Vol Volume 14 ◽  
pp. 409-416
Author(s):  
Erica Aristizábal ◽  
Lorena Diaz-Ordóñez ◽  
Estephania Candelo ◽  
Harry Pachajoa
Keyword(s):  
Case Report ◽  
Kabuki Syndrome
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