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The Application of Clinical Genetics
ISSN: 1178-704X
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- Volume 12, 2019 (30)
- Volume 11, 2018 (23)
- Volume 10, 2017 (12)
- Volume 9, 2016 (22)
- Volume 8, 2015 (24)
- Volume 7, 2014 (23)
- Volume 6, 2013 (12)
- Volume 5, 2012 (13)
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- Volume 1, 2008 (3)
Archive: Volume 12, 2019
Adverse Drug Reactions Associated with CYP 2B6 Polymorphisms in HIV/AIDS-Treated Patients in Yaoundé, Cameroon
Nguefeu Nkenfou C, Atogho Tiedeu B, Nguefeu Nkenfou C, Nji AM, Chedjou JP, Tah Fomboh C, Kouanfack C, Mbacham WF
The Application of Clinical Genetics 2019, 12:261-268
Published Date: 30 December 2019
Genetic Basis of Polycystic Ovary Syndrome (PCOS): Current Perspectives
Khan MJ, Ullah A, Basit S
The Application of Clinical Genetics 2019, 12:249-260
Published Date: 24 December 2019
Spotlight on Warsaw Breakage Syndrome
Pisani FM
The Application of Clinical Genetics 2019, 12:239-248
Published Date: 5 December 2019
COL2A1 Gene Mutations: Mechanisms of Spondyloepiphyseal Dysplasia Congenita
Nenna R, Turchetti A, Mastrogiorgio G, Midulla F
The Application of Clinical Genetics 2019, 12:235-238
Published Date: 4 December 2019
CCR2 Genetic Polymorphism And Its Potential Effect On HIV Acquisition In A Population Of Children Living In The Northern Region Of Cameroon
Ngoufack MN, Nkenfou CN, Atogho Tiedeu B, Mouafo LCM, Dambaya B, Ndzi EN, Kouanfack C, Nguefack-Tsague G, Mbacham WF, Ndjolo A
The Application of Clinical Genetics 2019, 12:229-234
Published Date: 28 November 2019
Candidate Gene Analysis Of Alopecia Areata In Jordanian Population Of Arab Descent: A Case–Control Study
AL-Eitan LN, Al Momani RO, Al Momani KK, Al Warawrah AM, Aljamal HA, Alghamdi MA, Muhanna AM, Al-Qarqaz FA
The Application of Clinical Genetics 2019, 12:221-228
Published Date: 21 November 2019
SLC22A1 And ATM Genes Polymorphisms Are Associated With The Risk Of Type 2 Diabetes Mellitus In Western Saudi Arabia: A Case-Control Study
Altall RM, Qusti SY, Filimban N, Alhozali AM, Alotaibi NA, Dallol A, Chaudhary AG, Bakhashab S
The Application of Clinical Genetics 2019, 12:213-219
Published Date: 15 November 2019
TRIM5α 136Q, CCR5 Promoter 59029G And CCR264I Alleles Impact The Progression Of HIV In Children And Adolescents
Dambaya B, Nkenfou CN, Mekue L, Této G, Ngoufack N, Ambada G, Flobert N, Colizzi V, Alexis N
The Application of Clinical Genetics 2019, 12:203-211
Published Date: 7 November 2019
Update On The Clinical Perspectives And Care Of The Child With 47,XXY (Klinefelter Syndrome)
Samango-Sprouse CA, Counts DR, Tran SL, Lasutschinkow PC, Porter GF, Gropman AL
The Application of Clinical Genetics 2019, 12:191-202
Published Date: 23 October 2019
Genetic Analysis Of ABCA1 Gene Of Primary Glaucoma In Jordanian Arab Population
Alkhatib R, Abudhaim N, AL-Eitan L, Abdo N, Alqudah A, Aman H
The Application of Clinical Genetics 2019, 12:181-189
Published Date: 4 October 2019
Gene Therapy For Beta-Thalassemia: Updated Perspectives
Karponi G, Zogas N
The Application of Clinical Genetics 2019, 12:167-180
Published Date: 23 September 2019
Ketogenic diet attenuates cerebellar atrophy progression in a subject with a biallelic variant at the ATAD3A locus [Response to Letter]
Al Madhoun A, Alnaser F, Melhem M, Nizam R, Al-Dabbous T, Al-Mulla F
The Application of Clinical Genetics 2019, 12:163-165
Published Date: 9 August 2019
Ketogenic diet in ATAD3A mutation carriers may not improve cerebellar atrophy but some clinical features [Letter]
Finsterer J
The Application of Clinical Genetics 2019, 12:161-162
Published Date: 5 August 2019
Polymorphisms of CYP2C9*2, CYP2C9*3 and VKORC1 genes related to time in therapeutic range in patients with atrial fibrillation using warfarin
Silveira MMBM, Melo LA, Gomes FMF, Andrade LJCBR, Serur IP, Piscoya ICV, Gueiros RM, Palmeira do Ó K, Lima RE, Brasileiro VAE, Vasconcelos LRS, Sobral Filho DC
The Application of Clinical Genetics 2019, 12:151-159
Published Date: 2 August 2019
First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities
Candelo E, Caicedo G, Rosso F, Ballesteros A, Orrego J, Escobar L, Lapunzina P, Nevado J, Pachajoa H
The Application of Clinical Genetics 2019, 12:141-150
Published Date: 30 July 2019
Pharmacogenetics of alcohol addiction: current perspectives
Zastrozhin MS, Skryabin VY, Miroshkin SS, Bryun EA, Sychev DA
The Application of Clinical Genetics 2019, 12:131-140
Published Date: 11 July 2019
Current understanding and treatment of cardiac and skeletal muscle pathology in laminin-α2 chain-deficient congenital muscular dystrophy
Nguyen Q, Lim KRQ, Yokota T
The Application of Clinical Genetics 2019, 12:113-130
Published Date: 3 July 2019
ACE gene polymorphism and its association with serum erythropoietin and hemoglobin in Iraqi hemodialysis patients
Al-Radeef MY, Fawzi HA, Allawi AA
The Application of Clinical Genetics 2019, 12:107-112
Published Date: 1 July 2019
Barth syndrome: mechanisms and management
Finsterer J
The Application of Clinical Genetics 2019, 12:95-106
Published Date: 5 June 2019
Tracing the effect of the melanocortin-4 receptor pathway in obesity: study design and methodology of the TEMPO registry
Eneli I, Xu J, Webster M, McCagg A, Van Der Ploeg L, Garfield AS, Estrada E
The Application of Clinical Genetics 2019, 12:87-93
Published Date: 5 June 2019
Ketogenic diet attenuates cerebellar atrophy progression in a subject with a biallelic variant at the ATAD3A locus
Al Madhoun A, Alnaser F, Melhem M, Nizam R, Al-Dabbous T, Al-Mulla F
The Application of Clinical Genetics 2019, 12:79-86
Published Date: 5 June 2019
High prevalence of genetic determined familial hypercholesterolemia in premature coronary artery disease
Pirazzi C, Håkansson L, Gustafsson C, Omerovic E, Wiklund O, Mancina RM
The Application of Clinical Genetics 2019, 12:71-78
Published Date: 24 May 2019
Mitochondrial DNA D-loop sequencing reveals obesity variants in an Arab population
Eaaswarkhanth M, Melhem M, Sharma P, Nizam R, Al Madhoun A, Chaubey G, Alsmadi O, AlOzairi E, Al-Mulla F
The Application of Clinical Genetics 2019, 12:63-70
Published Date: 24 May 2019
Correlates of genetic attributions among parents of children in the USA with developmental disabilities
Kiely B, Vettam S, Adesman A
The Application of Clinical Genetics 2019, 12:55-61
Published Date: 12 April 2019
MTHFR C677T polymorphism and risk of nonsyndromic cleft lip with or without cleft palate in the Moroccan population
Rafik A, Rachad L, Kone A, Nadifi S
The Application of Clinical Genetics 2019, 12:51-54
Published Date: 7 March 2019
Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype–phenotype correlations
Oliveira JP, Ferreira S
The Application of Clinical Genetics 2019, 12:35-50
Published Date: 5 March 2019
c.259A>C in the fibrinogen gene of alpha chain (FGA) is a fibrinogen with thrombotic phenotype
Salomon O, Barel O, Eyal E, Shnerb Ganor R, Kleinbaum Y, Shohat M
The Application of Clinical Genetics 2019, 12:27-33
Published Date: 28 February 2019
Two novel variants in the TCF12 gene identified in cases with craniosynostosis
Goumenos A, Tsoutsou E, Traeger-Synodinos J, Petychakis D, Gavra M, Kolialexi A, Frysira H
The Application of Clinical Genetics 2019, 12:19-25
Published Date: 12 February 2019
Genetics of COPA syndrome
Kumrah R, Mathew B, Vignesh P, Singh S, Rawat A
The Application of Clinical Genetics 2019, 12:11-18
Published Date: 8 February 2019
A two gene-based risk score predicts alcoholic cirrhosis development in males with at-risk alcohol consumption
Mancina RM, Ferri F, Farcomeni A, Molinaro A, Maffongelli A, Mischitelli M, Poli E, Parlati L, Burza MA, De Santis A, Attilia F, Rotondo C, Rando MM, Attilia ML, Ceccanti M, Ginanni Corradini S
The Application of Clinical Genetics 2019, 12:1-10
Published Date: 10 January 2019