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The Application of Clinical Genetics
ISSN: 1178-704X
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Archive: Volume 13, 2020
Role of Adiponectin Gene and Receptor Polymorphisms and Their mRNA Levels with Serum Adiponectin Level in Myocardial Infarction
Saleh AA, Tayel SI, Shalaby AG, El naidany SS
The Application of Clinical Genetics 2020, 13:241-252
Published Date: 18 December 2020
A Novel Splice-Site Mutation in the ELN Gene Suggests an Alternative Mechanism for Vascular Elastinopathies
Velandia-Piedrahita CA, Morel A, Fonseca-Mendoza DJ, Huertas-Quiñones VM, Castillo D, Bonilla JD, Hernandez-Toro CJ, Miranda-Fernández MC, Restrepo CM, Cabrera R
The Application of Clinical Genetics 2020, 13:233-240
Published Date: 17 December 2020
Effect of Genetic Testing on Diagnosing Gastrointestinal Pediatric Patients with Previously Undiagnosed Diseases
Altamimi E, Khanfar M, Rabab'h O, Dardas Z, Srour L, Mustafa L, Azab B
The Application of Clinical Genetics 2020, 13:221-231
Published Date: 16 December 2020
Incidence of HNF1A and GCK MODY Variants in a South African Population
Matsha TE, Raghubeer S, Tshivhase AM, Davids SFG, Hon GM, Bjørkhaug L, Erasmus RT
The Application of Clinical Genetics 2020, 13:209-219
Published Date: 14 December 2020
Voretigene Neparvovec and Gene Therapy for Leber’s Congenital Amaurosis: Review of Evidence to Date
Padhy SK, Takkar B, Narayanan R, Venkatesh P, Jalali S
The Application of Clinical Genetics 2020, 13:179-208
Published Date: 25 November 2020
The Human Genetic Variants CYP2J2 rs2280275 and EPHX2 rs751141 and Risk of Diabetic Nephropathy in Egyptian Type 2 Diabetic Patients
Habieb MS, Dawood AA, Emara MM, Elhelbawy MG, Elhelbawy NG
The Application of Clinical Genetics 2020, 13:165-178
Published Date: 19 November 2020
Hutchinson–Gilford Progeria Syndrome: Clinical and Molecular Characterization
Pachajoa H, Claros-Hulbert A, García-Quintero X, Perafan L, Ramirez A, Zea-Vera AF
The Application of Clinical Genetics 2020, 13:159-164
Published Date: 4 September 2020
A Homozygous Truncating Mutation in NALCN Causing IHPRF1: Detailed Clinical Manifestations and a Review of Literature
Karimi AH, Karimi MR, Farnia P, Parvini F, Foroutan M
The Application of Clinical Genetics 2020, 13:151-157
Published Date: 27 August 2020
Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report
Torres-Canchala L, Castaño D, Silva N, Gómez AM, Victoria A, Pachajoa H
The Application of Clinical Genetics 2020, 13:147-150
Published Date: 11 August 2020
The Influence of IL-1B Gene Polymorphisms on H. pylori Infection and Triple Treatment Response Among Jordanian Population
Shakhatreh MAK, Khabour OF, Alzoubi KH, BaniHani MN, Abu-Siniyeh A, Bashir NA, Sabi SH, Mahafdah M
The Application of Clinical Genetics 2020, 13:139-145
Published Date: 2 July 2020
Germline Sequencing Identifies Rare Variants in Finnish Subjects with Familial Germ Cell Tumors
Crowgey EL, Soini T, Shah N, Pauniaho SL, Lahdenne P, Wilson DB, Heikinheimo M, Druley TE
The Application of Clinical Genetics 2020, 13:127-137
Published Date: 30 June 2020
The Impact of the Genetic Polymorphism in DNA Repair Pathways on Increased Risk of Glioblastoma Multiforme in the Arab Jordanian Population: A Case–Control Study
Al-Khatib SM, Abdo N, Al-Eitan LN, Al-Mistarehi AHW, Zahran DJ, Al Ajlouni M, Kewan TZ
The Application of Clinical Genetics 2020, 13:115-126
Published Date: 11 June 2020
Haptoglobin Gene Polymorphism in Patients with Sickle Cell Anemia: Findings from a Nigerian Cohort Study
Olatunya OS, Albuquerque DM, Santos MNN, Kayode TS, Adekile A, Costa FF
The Application of Clinical Genetics 2020, 13:107-114
Published Date: 8 May 2020
Association of Cholinergic Muscarinic M4 Receptor Gene Polymorphism with Schizophrenia
Pozhidaev IV, Boiko AS, Loonen AJM, Paderina DZ, Fedorenko OY, Tenin G, Kornetova EG, Semke AV, Bokhan NA, Wilffert B, Ivanova SA
The Application of Clinical Genetics 2020, 13:97-105
Published Date: 22 April 2020
Integrative and Analytical Review of the 5-Alpha-Reductase Type 2 Deficiency Worldwide
Batista RL, Mendonca BB
The Application of Clinical Genetics 2020, 13:83-96
Published Date: 14 April 2020
Alternating Hemiplegia of Childhood: Understanding the Genotype–Phenotype Relationship of ATP1A3 Variations
Capuano A, Garone G, Tiralongo G, Graziola F
The Application of Clinical Genetics 2020, 13:71-81
Published Date: 30 March 2020
A Novel APOC2 Mutation in a Colombian Patient with Recurrent Hypertriglyceridemic Pancreatitis
Pinilla-Monsalve GD, Lores J, Pachajoa H, López-Ponce de León JD, López A, Rodríguez-Rojas LX, Nastasi-Catanese JA
The Application of Clinical Genetics 2020, 13:63-69
Published Date: 26 March 2020
PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country
Forero-Delgadillo JM, Cleves D, Ochoa V, Londoño-Correa H, Restrepo JM, Nastasi-Catanese JA, Pachajoa H
The Application of Clinical Genetics 2020, 13:57-62
Published Date: 13 February 2020
Molybdenum Cofactor Deficiency: Mega Cisterna Magna in Two Consecutive Pregnancies and Review of the Literature
Alonzo Martínez MC, Cazorla E, Cánovas E, Anniuk K, Cores AE, Serrano AM
The Application of Clinical Genetics 2020, 13:49-55
Published Date: 30 January 2020
Alkaptonuria: Current Perspectives
Zatkova A, Ranganath L, Kadasi L
The Application of Clinical Genetics 2020, 13:37-47
Published Date: 23 January 2020
Metabolic Syndrome as a Risk Factor for Sensorineural Hearing Loss in Adult Patients with Turner Syndrome
Álvarez-Nava F, Racines-Orbe M, Witt J, Guarderas J, Vicuña Y, Estévez M, Lanes R
The Application of Clinical Genetics 2020, 13:25-35
Published Date: 13 January 2020
Sjogren-Larsson Syndrome: Mechanisms and Management
Bindu PS
The Application of Clinical Genetics 2020, 13:13-24
Published Date: 7 January 2020
The Importance of Small Non-Coding RNAs in Human Reproduction: A Review Article
Kamalidehghan B, Habibi M, Afjeh SS, Shoai M, Alidoost S, Almasi Ghale R, Eshghifar N, Pouresmaeili F
The Application of Clinical Genetics 2020, 13:1-11
Published Date: 8 January 2020