-
Homozygous CHST11 mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly,
Posted on by BMJ in Uncategorized
-
Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada,
Posted on by BMJ in Uncategorized
-
Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome,
Posted on by BMJ in Uncategorized
-
Pediatric Ovarian Tumours and Their Associated Cancer Susceptibility Syndromes,
Posted on by BMJ in Uncategorized
-
Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations,
Posted on by BMJ in Uncategorized
-
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability,
Posted on by BMJ in Uncategorized
-
New insights into SERCA2a gene therapy in heart failure: pay attention to the negative effects of B-type natriuretic peptides,
Posted on by BMJ in Uncategorized
-
Comprehensive analysis of the MLH1 promoter region in 480 colorectal cancer patients and 1,150 controls reveals new variants including one with a heritable constitutional MLH1 epimutation,
Posted on by BMJ in Uncategorized
-
Genome-wide association study identifies ERBB4 on 2q34 as a novel locus associated with sperm motility in Japanese men,
Posted on by BMJ in Uncategorized
-
Mutation of IFNLR1, an interferon lambda receptor 1, is associated with autosomal-dominant non-syndromic hearing loss,
Posted on by BMJ in Uncategorized
