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The Application of Clinical Genetics


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

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