-
Mutations in NLRP7 are associated with diploid biparental hydatidiform moles, but not androgenetic complete moles,
Posted on by BMJ in Uncategorized
-
Promoter methylation in coagulation F7 gene influences plasma FVII concentrations and relates to coronary artery disease,
Posted on by BMJ in Uncategorized
-
Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele,
Posted on by BMJ in Uncategorized
-
Identification of YAP1 as a novel susceptibility gene for polycystic ovary syndrome,
Posted on by BMJ in Uncategorized
-
Keratinocytic epidermal nevi are associated with mosaic RAS mutations,
Posted on by BMJ in Uncategorized
-
Correlation of tumor BRAF mutations and MLH1 methylation with germline MMR gene mutation status: a literature review assessing utility of tumor features for MMR variant classification,
Posted on by BMJ in Uncategorized
-
Fabry International Prognostic Index: a predictive severity score for Anderson-Fabry disease,
Posted on by BMJ in Uncategorized
-
CDKN2A is the main susceptibility gene in Italian pancreatic cancer families,
Posted on by BMJ in Uncategorized
-
Genotype–phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures,
Posted on by BMJ in Uncategorized
-
The phenotypic spectrum of the SMAD3-related Aneurysms-Osteoarthritis Syndrome (AOS),
Posted on by BMJ in Uncategorized
