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 24, 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 24, 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 16, 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 27, 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