SUBJECTS : Population Genetics | Functional Genetics | Genetic Disease | Pharmacogenetic
The Application of Clinical Genetics: 2021, vol: 14, issue:
- 1)- Ralph S Papas, William H Kutteh. Genetic Testing for Aneuploidy in Patients Who Have Had Multiple Miscarriages: A Review of Current Literature. The application of clinical genetics. 2021, 14: 321-329
Cited : 16Read More - 2)- Abeer ALrefai, Ashraf Dawood, Wafaa Shehata, Mohammed Elhelbawy, Nesreen Elhelbawy. Evaluation of NLRP3 (rs10754558) and PTPN22 (1858C/T) (rs2476601) Functional Polymorphisms in Psoriasis Susceptibility in Egypt. The application of clinical genetics. 2021, 14: 331-339Cited : 4Read More
- 3)- Boonchai Boonyawat, Chalinee Monsereenusorn, Apichat Photia, Nawachai Lertvivatpong, Varissara Kaewchaivijit, Punyanuch Jindatanmanusan, Piya Rujkijyanont. and Polymorphisms and Their Relation to Mercaptopurine-Related Myelotoxicity in Childhood Leukemia in Thailand. The application of clinical genetics. 2021, 14: 341-351Cited : 3Read More
- 4)- Devan S Kowdley, Kris V Kowdley. Appropriate Clinical Genetic Testing of Hemochromatosis Type 2-4, Including Ferroportin Disease. The application of clinical genetics. 2021, 14: 353-361Cited : 2Read More
- 5)- Murugan Sudhakar, Rashmi Rikhi, Sathish Kumar Loganathan, Deepti Suri, Surjit Singh. Autoimmunity in Wiskott-Aldrich Syndrome: Updated Perspectives. The application of clinical genetics. 2021, 14: 363-388Cited : 17Read More
- 6)- Bożena Kosztyła-Hojna, Jan Borys, Maciej Zdrojkowski, Emilia Duchnowska, Anna Kraszewska, Daria Wasilewska, Christiane Zweier, Alina Teresa Midro. Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in - Case Study. The application of clinical genetics. 2021, 14: 389-398Cited : 1Read More
- 7)- Paula Triana-Fonseca, Juan Fernando Parada-Márquez, Claudia T Silva-Aldana, Daniela Zambrano-Arenas, Laura Lucia Arias-Gomez, Natalia Morales-Fonseca, Esteban Medina-Méndez, Carlos M Restrepo, Daniel Felipe Silgado-Guzmán, Dora Janeth Fonseca-Mendoza. Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy. The application of clinical genetics. 2021, 14: 399-408Cited : 4Read More
- 8)- Erica Aristizábal, Lorena Diaz-Ordóñez, Estephania Candelo, Harry Pachajoa. A Novel Intronic Variant as a Cause of Kabuki Syndrome: A Case Report. The application of clinical genetics. 2021, 14: 409-416Cited : 4Read More
- 9)- Beata Kaleta, Mieszko Lachota, Jacek Łukaszkiewicz, Anna Woźniacka, Jarosław Bogaczewicz. Osteopontin Gene Polymorphisms rs1126616 C>T and rs1126772 A>G are Associated with Atopic Dermatitis in Polish Population. The application of clinical genetics. 2021, 14: 417-425Cited : 2Read More
- 10)- Nikoletta Nagy, Anna Dubois, Marta Szell, Neil Rajan. Genetic Testing in CYLD Cutaneous Syndrome: An Update. The application of clinical genetics. 2021, 14: 427-444Cited : 11Read More
- 11)- Connie H Miller. The Clinical Genetics of Hemophilia B (Factor IX Deficiency). The application of clinical genetics. 2021, 14: 445-454Cited : 10Read More
- 12)- Anne Marie Jelsig, Anna Byrjalsen, Majbritt Busk Madsen, Tine Plato Kuhlmann, Thomas van Overeem Hansen, Karin A W Wadt, John Gásdal Karstensen. Novel Genetic Causes of Gastrointestinal Polyposis Syndromes. The application of clinical genetics. 2021, 14: 455-466Cited : 8Read More
- 13)- Sang Trieutien, Tam Vu Van, My Tran Ngoc Thao, Son Trinh The, Khoa Tran Van, Tung Nguyen Thanh, Tuan Tran Van, Hanh Nguyen Thi. Preimplantation Genetic Diagnosis for DEB by Detecting a Novel Family-Specific COL7A1 Mutation in Vietnam. The application of clinical genetics. 2021, 14: 467-472Cited : 1Read More
- 14)- Jorge Andres Olave-Rodriguez, Francisco Javier Bonilla-Escobar, Estephania Candelo, Lisa Ximena Rodriguez-Rojas. First Two Case Reports of Becker's Type Myotonia Congenita in Colombia: Clinical and Genetic Features. The application of clinical genetics. 2021, 14: 473-479Cited : 2Read More
