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Francesco Benedicenti

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 14, 2024

Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait maculesGioia Mastromoro, Claudia Santoro, Marialetizia Motta, et al.

Human Mutation|March 25, 2022

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsiaMaria Solaki, Britta Baumann, Peggy Reuter, et al.

Human Molecular Genetics|July 21, 2022

Natural history of KBG syndrome in a large European cohortLorenzo Loberti, Lucia Pia Bruno, Stefania Granata, et al.

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Search research articles

Showing results (31-40 of 33) with videos related to

Sort By:

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You have reached the last page of results.This site can display upto 33 results.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 14, 2024

Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait maculesGioia Mastromoro, Claudia Santoro, Marialetizia Motta, et al.

Human Mutation|March 25, 2022

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsiaMaria Solaki, Britta Baumann, Peggy Reuter, et al.

Human Molecular Genetics|July 21, 2022

Natural history of KBG syndrome in a large European cohortLorenzo Loberti, Lucia Pia Bruno, Stefania Granata, et al.

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