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Fatima Rahman

3PUBLICATIONS
20CO-AUTHORS
Medical mycologyEpigenetics (incl. genome methylation and epigenomics)Neurogenetics
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Journal

Publications (3)

Sort by Publication Date:
|Dec 12, 2024
Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism.

Fatima Rahman, Luisa Marsili, Domizia Pasquetti

|May 15, 2023
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.

Henrike L Sczakiel, Max Zhao, Brigitte Wollert-Wulf

|May 08, 2021
Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.

Stephanie Efthymiou, Isabella Herman, Fatima Rahman

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Frequent Collaborators

2 joint publications

Stephanie Efthymiou

2 joint publications

James R Lupski

2 joint publications

Reza Maroofian

1 joint publications

Isabella Herman

1 joint publications

Daniel G Calame

1 joint publications

Ruizhi Duan

1 joint publications

Dana Marafi

1 joint publications

Richard A Gibbs

1 joint publications

Jennifer E Posey

1 joint publications

Tugce B Balci

Frequent Collaborators

2 joint publications

Stephanie Efthymiou

2 joint publications

James R Lupski

2 joint publications

Reza Maroofian

1 joint publications

Isabella Herman

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