Show
Sort by
-
GGCX-associated phenotypes : an overview in search of genotype-phenotype correlations
-
Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene
-
Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
-
Second hit landscape in BRCA-associated breast cancer
-
CRISPR/Cas9-mediated genome editing in naive human embryonic stem cells followed by neural differentiation : an optimized workflow
-
Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development
-
Myhre syndrome : broadening the phenotypic spectrum
-
Congenital contractural arachnodactyly : delineation of clinical criteria
-
A CARD9 founder mutation p.Arg70Trp in Belgian and French patients of Turkish origin with a spectrum of chronic mucocutaneous and invasive fungal infections
-
Arterial tortuosity syndrome : 37 new families and literature review