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
Evaluation of amplification refractory mutation system (ARMS) technique for quick and accurate prenatal gene diagnosis of CHM variant in choroideremia
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - December 18, 2017 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - December 14, 2017 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
Novel mutation of FKBP10 in a pediatric patient with osteogenesis imperfecta type XI identified by clinical exome sequencing
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - November 6, 2017 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
RAI1 gene mutations: mechanisms of Smith & ndash;Magenis Syndrome
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - November 2, 2017 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
Primary ciliary dyskinesia: mechanisms and management
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - September 19, 2017 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
Maple syrup urine disease: mechanisms and management
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - September 5, 2017 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
