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Overview Leadership Blog JoVE Help Center

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Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

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Testimonials Subscriptions Access Resources Library Advisory Board FAQ

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JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

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Sarah Snanoudj

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Life (Basel, Switzerland)|March 6, 2021

NGLY1 Deficiency: A Rare Newly Described Condition with a Typical PresentationIvana Dabaj, Bénédicte Sudrié-Arnaud, François Lecoquierre, et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|December 31, 2019

Maternal Transmission Ratio Distortion of GNAS Loss-of-Function MutationsSarah Snanoudj, Arnaud Molin, Cindy Colson, et al.

European Journal of Medical Genetics|September 26, 2025

Rare features in Feingold syndrome type 1Fanny Ferroul, Sarah Snanoudj, Gaëlle Leterme, et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry|April 15, 2021

Large-scale screening of lipase acid deficiency in at risk populationAbdellah Tebani, Bénédicte Sudrié-Arnaud, Hela Boudabous, et al.

Journal of Medical Genetics|March 19, 2021

Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiencyAbdellah Tebani, Bénédicte Sudrié-Arnaud, Ivana Dabaj, et al.

Pageof 2

Search research articles

Showing results (11-20 of 15) with videos related to

Sort By:

Pageof 2

You have reached the last page of results.This site can display upto 15 results.

Life (Basel, Switzerland)|March 6, 2021

NGLY1 Deficiency: A Rare Newly Described Condition with a Typical PresentationIvana Dabaj, Bénédicte Sudrié-Arnaud, François Lecoquierre, et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|December 31, 2019

Maternal Transmission Ratio Distortion of GNAS Loss-of-Function MutationsSarah Snanoudj, Arnaud Molin, Cindy Colson, et al.

European Journal of Medical Genetics|September 26, 2025

Rare features in Feingold syndrome type 1Fanny Ferroul, Sarah Snanoudj, Gaëlle Leterme, et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry|April 15, 2021

Large-scale screening of lipase acid deficiency in at risk populationAbdellah Tebani, Bénédicte Sudrié-Arnaud, Hela Boudabous, et al.

Journal of Medical Genetics|March 19, 2021

Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiencyAbdellah Tebani, Bénédicte Sudrié-Arnaud, Ivana Dabaj, et al.

Pageof 2