LATEST MANUSCRIPTS IN The Application of Clinical Genetics
Rafał Patryn, Anna Zagaja, Mariola Drozd. Donor Safety, Discrepancies Between Practice and Theory: Analysis of the Polish Supreme Audit Office's Report.The application of clinical genetics. 2023, 16: 1-10
Divya Ail, Hugo Malki, Emilia A Zin, Deniz Dalkara. Adeno-Associated Virus (AAV) - Based Gene Therapies for Retinal Diseases: Where are We?The application of clinical genetics. 2023, 16: 111-130
Awol Mekonnen Ali, Haileyesus Adam, Daniel Hailu, Rawleigh Howe, Teferra Abula, Marieke J H Coenen. Evaluating the Frequencies of , and Variant Alleles and Their Association with L-Asparaginase Hypersensitivity in Pediatric Acute Lymphoblastic Leukemia in Addis Ababa, Ethiopia.The application of clinical genetics. 2023, 16: 131-137
Filippos Kyriakidis, Dionysios Kogias, Theodora Maria Venou, Eleni Karlafti, Daniel Paramythiotis. Updated Perspectives on the Diagnosis and Management of Familial Adenomatous Polyposis.The application of clinical genetics. 2023, 16: 139-153
Son The Trinh, Nhat Ngoc Nguyen, Hien Thi Thu Le, Hanh Thi My Pham, Sang Tien Trieu, Ngoc Thao My Tran, Hung Sy Ho, Danh Van Tran, Tam Van Trinh, Hiep Trong Hoang Nguyen, Ngoc Pham Minh, Trinh Duc Dang, Viet Huu Dinh, Hang Thi Doan. Screening Y Chromosome Microdeletion in 1121 Men with Low Sperm Concentration and the Outcomes of Microdissection Testicular Sperm Extraction (mTESE) for Sperm Retrieval from Azoospermic Patients.The application of clinical genetics. 2023, 16: 155-164
Kulawan Rojananuangnit, Kitiwan Rojnueangnit. Microspherophakic Angle Closure Glaucoma in a Patient with Coffin-Siris Syndrome: Case Report.The application of clinical genetics. 2023, 16: 165-170
Abraham Nigussie Mekuria, Tamrayehu Seyoum, Dawit Hailu Alemayehu, Markos Abebe, Teshome Nedi, Tefera Abula, Yun Yun Gong, Ephrem Engidawork. Copy Number Variation in the and Genes and the Risk of Liver Cirrhosis in Eastern Ethiopia.The application of clinical genetics. 2023, 16: 171-179
Hanna J Tadros, Christina Y Miyake, Debra L Kearney, Jeffrey J Kim, Susan W Denfield. The Many Faces of Arrhythmogenic Cardiomyopathy: An Overview.The application of clinical genetics. 2023, 16: 181-203
Bastien Grandjean, Amina Scherz, Manuela Rabaglio. Eleven Years of Oncogenetic Consultations in a Swiss Center: Patient and Testing Characteristics.The application of clinical genetics. 2023, 16: 205-213
Retno Hesty Maharani, Hartati Purbo Dharmadji, Reti Hindritiani, Pati Aji Achdiat, Hendra Gunawan, Reiva Farah Dwiyana. Vitamin D Receptor Gene Polymorphisms and Association with Vitiligo in Indonesian Population.The application of clinical genetics. 2023, 16: 225-232
Hubertus von Korn, Cristina Basso, Kalliopi Pilichou, Victor Stefan, Patrick Swojanowsky. A New Inherited Syndrome Causing Sudden Cardiac Death with Distinct ST-Segment Depression and Ankyrin-2-Mutation.The application of clinical genetics. 2023, 16: 233-239
Ninna Karsbæk Senftleber, Stina Ramne, Ida Moltke, Marit Eika Jørgensen, Anders Albrechtsen, Torben Hansen, Mette K Andersen. Genetic Loss of Sucrase-Isomaltase Function: Mechanisms, Implications, and Future Perspectives.The application of clinical genetics. 2023, 16: 31-39
Van K Ma, Rong Mao, Jessica N Toth, Makenzie L Fulmer, Alena S Egense, Suma P Shankar. Prader-Willi and Angelman Syndromes: Mechanisms and Management.The application of clinical genetics. 2023, 16: 41-52