SUBJECTS : Population Genetics | Functional Genetics | Genetic Disease | Pharmacogenetic
The Application of Clinical Genetics: 2023, vol: 16, issue:
- 1)- 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
Cited : 0Read More - 2)- Divyani Garg, Shekeeb Mohammad, Anju Shukla, Suvasini Sharma. Genetic Links to Episodic Movement Disorders: Current Insights. The application of clinical genetics. 2023, 16: 11-30Cited : 1Read More
- 3)- 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: 111-130Cited : 14Read More
- 4)- 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: 131-137Cited : 0Read More
- 5)- 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: 139-153Cited : 5Read More
- 6)- 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: 155-164Cited : 3Read More
- 7)- Kulawan Rojananuangnit, Kitiwan Rojnueangnit. Microspherophakic Angle Closure Glaucoma in a Patient with Coffin-Siris Syndrome: Case Report. The application of clinical genetics. 2023, 16: 165-170Cited : 1Read More
- 8)- 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: 171-179Cited : 0Read More
- 9)- 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: 181-203Cited : 3Read More
- 10)- 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: 205-213Cited : 0Read More
- 11)- Ampaiwan Chuansumrit, Rungrote Natesirinilkul, Nongnuch Sirachainan, Praguywan Kadegasem, Pacharapan Surapolchai, Noppawan Tangbubpha, Ketsuda Kempka, Tanyanee Khlangtan. Multicenter Study of Diagnostic Tool for Patients with Hemophilia: From Bedside to Comprehensive Investigations. The application of clinical genetics. 2023, 16: 215-223Cited : 0Read More
- 12)- 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: 225-232Cited : 0Read More
- 13)- 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: 233-239Cited : 0Read More
- 14)- 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: 31-39Cited : 6Read More
- 15)- 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: 41-52Cited : 0Read More
- 16)- Lisa Ximena Rodriguez-Rojas, Estephania Candelo, Harry Pachajoa, Juan Esteban Garcia-Robledo, Jose Antonio Nastasi-Catanese, Jorge Andres Olave-Rodriguez, Angela R Zambrano. The Unique Spectrum of Germline Mutations in Colombian Patients with Extracolonic Carcinomas. The application of clinical genetics. 2023, 16: 53-62Cited : 1Read More
- 17)- Luis Fernando Sánchez-Espino, Marta Ivars, Javier Antoñanzas, Eulalia Baselga. Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache. The application of clinical genetics. 2023, 16: 63-81Cited : 21Read More
- 18)- Amina Scherz, Susanna Stoll, Benno Rothlisberger, Manuela Rabaglio. A New de novo Mutation in a Young Breast Cancer Patient: A Case Report. The application of clinical genetics. 2023, 16: 83-87Cited : 2Read More
- 19)- Karin E M Diderich, Jasmijn E Klapwijk, Vyne van der Schoot, Hennie T Brüggenwirth, Marieke Joosten, Malgorzata I Srebniak. Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing. The application of clinical genetics. 2023, 16: 89-97Cited : 1Read More
- 20)- Agnes Stephanie Harahap, Imam Subekti, Sonar Soni Panigoro, Asmarinah, Lisnawati, Retno Asti Werdhani, Hasrayati Agustina, Dina Khoirunnisa, Mutiah Mutmainnah, Salinah, Alvita Dewi Siswoyo, Maria Francisca Ham. Profile of V600E, K601E, , and Mutational Status, and Clinicopathological Characteristics of Papillary Thyroid Carcinoma in Indonesian National Referral Hospital. The application of clinical genetics. 2023, 16: 99-110Cited : 3Read More
