SUBJECTS : Population Genetics | Functional Genetics | Genetic Disease | Pharmacogenetic
The Application of Clinical Genetics: 2022, vol: 15, issue:
- 1)- Viktoriia Zabnenkova, Olga Shchagina, Olga Makienko, Galina Matyushchenko, Oxana Ryzhkova. Novel Compound Heterozygous Variants in the Gene in a Russian Patient with Meier-Gorlin Syndrome. The application of clinical genetics. 2022, 15: 1-10
Cited : 2Read More - 2)- Soetjipto, Nur Rochmah, Muhammad Faizi, Yuni Hisbiyah, Anang Endaryanto. HLA-DQA1 and HLA-DQB1 Gene Polymorphism in Indonesian Children with Type I Diabetes Mellitus. The application of clinical genetics. 2022, 15: 11-17Cited : 4Read More
- 3)- Alyssa M Volmrich, Lauren M Cuénant, Irman Forghani, Sharon L Hsieh, Lauren T Shapiro. ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy. The application of clinical genetics. 2022, 15: 111-123Cited : 4Read More
- 4)- Martin H Maurer, Anja Kohler, Melanie Hudemann, Jerome Jüngling, Saskia Biskup, Martin Menzel. Case Report of a Juvenile Patient with Autism Spectrum Disorder with a Novel Combination of Copy Number Variants in () and Two Pseudogenes. The application of clinical genetics. 2022, 15: 125-131Cited : 1Read More
- 5)- Ampaiwan Chuansumrit, Werasak Sasanakul, Nongnuch Sirachainan, Suttikarn Santiwatana, Praguywan Kadegasem, Pakawan Wongwerawattanakoon, Noppawan Tungbubpha, Juthamard Chantaraamporn. Three-Decade Successive Establishment of Care for Women/Girls from Families with Haemophilia. The application of clinical genetics. 2022, 15: 133-143Cited : 1Read More
- 6)- Hanna Moczulska, Michal Pietrusinski, Marcin Serafin, Beata Skoczylas, Piotr Sieroszewski, Maciej Borowiec. Prenatal Sonographic Features of Rare Chromosome 13 Aberrations. The application of clinical genetics. 2022, 15: 145-151Cited : 2Read More
- 7)- Natana Chaves Rabelo, Maria Eduarda Gomes, Isabelle de Oliveira Moraes, Juliana Cantagalli Pfisterer, Guilherme Loss de Morais, Deborah Antunes, Ernesto Raúl Caffarena, Juan Llerena, Sayonara Gonzalez. RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations. The application of clinical genetics. 2022, 15: 153-170Cited : 3Read More
- 8)- Nur Rochmah, Muhammad Faizi, Suhasta Nova, Retno Asih Setyoningrum, Sukmawati Basuki, Anang Endaryanto. CTLA-4 CT-60 A/G and CTLA-4 1822 C/T Gene Polymorphisms in Indonesians with Type 1 Diabetes Mellitus. The application of clinical genetics. 2022, 15: 19-25Cited : 4Read More
- 9)- Magdalena Pasińska, Ewelina Łazarczyk, Anna Repczyńska, Agnieszka Sobczyńska-Tomaszewska, Janusz Zimowski, Agata Runge, Olga Haus. Clinical Importance of aCGH in Genetic Counselling of Children with Psychomotor Retardation. The application of clinical genetics. 2022, 15: 27-38Cited : 1Read More
- 10)- Yuqi Yang, Yu Wang, Lingna Zhou, Wei Long, Bin Yu, Huaiyan Wang. Molecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example. The application of clinical genetics. 2022, 15: 39-48Cited : 4Read More
- 11)- Werasak Sasanakul, Ampaiwan Chuansumrit, Nongnuch Sirachainan, Praguywan Kadegasem. Prominent Mutation of Intron 22 Inversion in Sporadic Hemophilia: Is It Worth the Antenatal Screening? The application of clinical genetics. 2022, 15: 49-54Cited : 1Read More
- 12)- Nhat Nguyen Ngoc, My Tran Ngoc Thao, Sang Trieu Tien, Son Vu Tung, Hoang Le, Hung Ho Sy, Tung Nguyen Thanh, Son Trinh The. Evaluating the Association Between Genetic Polymorphisms Related to Homocysteine Metabolism and Unexplained Recurrent Pregnancy Loss in Women. The application of clinical genetics. 2022, 15: 55-62Cited : 6Read More
- 13)- Sebastian Giraldo-Ocampo, Rafael Adrian Pacheco-Orozco, Harry Pachajoa. A Novel Variant in a Patient with Intellectual Disability and Obesity. The application of clinical genetics. 2022, 15: 63-68Cited : 1Read More
- 14)- Safaa I Tayel, Shimaa E Soliman, Iman A Ahmedy, Mohamed Abdelhafez, Aly M Elkholy, Amira Hegazy, Nashwa M Muharram. Deregulation of CircANXA2, Circ0075001, and CircFBXW7 Gene Expressions and Their Predictive Value in Egyptian Acute Myeloid Leukemia Patients. The application of clinical genetics. 2022, 15: 69-85Cited : 4Read More
- 15)- Christy L Pylypjuk, Shiza F Memon, Bernard N Chodirker. Utility of Measuring Fetal Cavum Septum Pellucidum (CSP) Width During Routine Obstetrical Ultrasound for Improving Diagnosis of 22q11.2 Deletion Syndrome: A Case-Control Study. The application of clinical genetics. 2022, 15: 87-95Cited : 7Read More
- 16)- Naglaa S Elabd, Shimaa E Soliman, Moamena S Elhamouly, Suzy F Gohar, Ayman Elgamal, Mahmoud Magdy Alabassy, Haitham A Soliman, Abdelnaser A Gadallah, Osama D Elbahr, Ghada Soliman, Amany A Saleh. Long Non-Coding RNAs ASB16-AS1 and AFAP1-AS1: Diagnostic, Prognostic Impact and Survival Analysis in Colorectal Cancer. The application of clinical genetics. 2022, 15: 97-109Cited : 7Read More
