Show
Sort by
-
Personalized genetic counseling for Stargardt disease : offspring risk estimates based on variant severity
-
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome
-
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome (vol 108, pg 1095, 2021)
-
Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)
-
- Journal Article
- A1
- open access
Loss of function of RIMS2 causes a syndromic congenital cone-rod synaptic disease with neurodevelopmental and pancreatic involvement
-
Homozygous null TBX4 mutations lead to posterior amelia with pelvic and pulmonary hypoplasia
-
De novo and inherited pathogenic variants in KDM3B cause intellectual disability, short stature, and facial dysmorphism
-
Bi-allelic loss-of-function mutations in the NPR-C receptor result in enhanced growth and connective tissue abnormalities
-
- Journal Article
- A1
- open access
Genotype-phenotype correlation in NF1 : evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848
-
IRF2BPL is associated with neurological phenotypes