Spotlight on Warsaw Breakage Syndrome
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - December 4, 2019 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

COL2A1 Gene Mutations: Mechanisms of Spondyloepiphyseal Dysplasia Congenita
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - December 3, 2019 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

CCR2 Genetic Polymorphism And Its Potential Effect On HIV Acquisition In A Population Of Children Living In The Northern Region Of Cameroon
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - November 27, 2019 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Candidate Gene Analysis Of Alopecia Areata In Jordanian Population Of Arab Descent: A Case & ndash;Control Study
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - November 20, 2019 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

SLC22A1 And ATM Genes Polymorphisms Are Associated With The Risk Of Type 2 Diabetes Mellitus In Western Saudi Arabia: A Case-Control Study
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - November 15, 2019 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

TRIM5 & alpha; 136Q, CCR5 Promoter 59029G And CCR264I Alleles Impact The Progression Of HIV In Children And Adolescents
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - November 7, 2019 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Update On The Clinical Perspectives And Care Of The Child With 47,XXY (Klinefelter Syndrome)
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - October 22, 2019 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Genetic Analysis Of ABCA1 Gene Of Primary Glaucoma In Jordanian Arab Population
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - October 4, 2019 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Gene Therapy For Beta-Thalassemia: Updated Perspectives
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - September 23, 2019 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Ketogenic diet attenuates cerebellar atrophy progression in a subject with a biallelic variant at the ATAD3A locus [Response to Letter]
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - August 9, 2019 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Ketogenic diet in ATAD3A mutation carriers may not improve cerebellar atrophy but some clinical features [Letter]
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - August 5, 2019 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Polymorphisms of CYP2C9*2, CYP2C9*3 and VKORC1 genes related to time in therapeutic range in patients with atrial fibrillation using warfarin
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - August 2, 2019 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - July 30, 2019 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Pharmacogenetics of alcohol addiction: current perspectives
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - July 11, 2019 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Current understanding and treatment of cardiac and skeletal muscle pathology in laminin- & alpha;2 chain-deficient congenital muscular dystrophy
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - July 3, 2019 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

ACE gene polymorphism and its association with serum erythropoietin and hemoglobin & lrm;in Iraqi hemodialysis patients
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - July 1, 2019 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Tracing the effect of the melanocortin-4 receptor pathway in obesity: study design and methodology of the TEMPO registry
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - June 5, 2019 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Ketogenic diet attenuates cerebellar atrophy progression in a subject with a biallelic variant at the ATAD3A locus
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - June 5, 2019 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Barth syndrome: mechanisms and management
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - June 5, 2019 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

High prevalence of genetic determined familial hypercholesterolemia in premature coronary artery disease
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - May 24, 2019 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Mitochondrial DNA D-loop sequencing reveals obesity variants in an Arab population
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - May 24, 2019 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Correlates of genetic attributions among parents of children in the USA with developmental disabilities
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - April 12, 2019 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

MTHFR C677T polymorphism and risk of nonsyndromic cleft lip with or without cleft palate in the Moroccan population
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - March 7, 2019 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype & ndash;phenotype correlations
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - March 5, 2019 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

c.259A & gt;C in the fibrinogen gene of alpha chain (FGA) is a fibrinogen with thrombotic phenotype
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - February 28, 2019 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Two novel variants in the & nbsp;TCF12 & nbsp;gene identified in cases with craniosynostosis
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - February 12, 2019 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Genetics of COPA syndrome
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - February 8, 2019 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

A two gene-based risk score predicts alcoholic cirrhosis development in males with at-risk alcohol consumption
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - January 10, 2019 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Adult-onset type II citrullinemia: Current insights and therapy
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - December 11, 2018 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

A novel de novo TBX5 & nbsp;mutation in a patient with Holt-Oram syndrome
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - November 23, 2018 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Novel & nbsp;ATP7A & nbsp;gene mutation in a patient with Menkes disease
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - November 22, 2018 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

The role of & nbsp;PAX9 & nbsp;promoter gene polymorphisms in causing hypodontia: a study in the Jordanian population
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - November 21, 2018 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

The genetics of congenital central hypoventilation syndrome: clinical implications
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - November 14, 2018 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Potential oligogenic disease of mental retardation, short stature, spastic paraparesis and osteopetrosis
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - November 7, 2018 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Pena-Shokeir syndrome: current management strategies and palliative care
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - October 25, 2018 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Association of mitochondrial DNA copy number with self-rated health status
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - October 25, 2018 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Aortic calcification in Gaucher disease: a case report
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - October 17, 2018 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

IRS-1 genetic polymorphism (r.2963G & gt;A) in type 2 diabetes mellitus patients associated with insulin resistance
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - September 28, 2018 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - August 22, 2018 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Clinical features related to xeroderma pigmentosum in a Brazilian patient diagnosed at advanced age
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - August 10, 2018 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Independent of DAZL-T54A variant and AZF microdeletion in a sample of Egyptian patients with idiopathic non-obstructed azoospermia
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - July 19, 2018 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - July 3, 2018 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype [Corrigendum]
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - May 31, 2018 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - May 25, 2018 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Mutation analysis of BRCA1/2 mutations with special reference to polymorphic SNPs in Indian breast cancer patients
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - May 9, 2018 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - April 24, 2018 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - April 20, 2018 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Clinical and molecular genetic features of Hb H and AE Bart & rsquo;s diseases in central Thai children
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - April 3, 2018 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - March 23, 2018 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research

Tetrasomy 18p: case report and review of literature
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - February 8, 2018 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research