Keyword Connections

genotype-phenotype correlation

Journals

2

1 seizure

2 journal of pediatric endocrinology & metabolism : jpem

Research Groups

0

No Research Group Connected

Bibliographies

5

1 Tuberous Sclerosis Complex in Chinese patients: Phenotypic analysis and mutational screening of TSC1/TSC2 genes.

2 Two different missense mutations of PEX genes in two similar patients with severe Zellweger syndrome: an argument on the genotype-phenotype correlation.

3 variable clinical expression in patients with a germline men1 disease gene mutation: clues to a genotype-phenotype correlation

4 clinical presentation of juvenile huntington disease

5 Lack of genotype-phenotype correlation in basal cell nevus syndrome: a Dutch multicenter retrospective cohort study.