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Publications by B. Augello

Report of the First Clinical Case of a Moroccan Kabuki Patient With a Novel MLL2 Mutation

Molecular Syndromology

English

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A Novel Frameshift Mutation in the XPC Gene in a Moroccan Patient: A Case Report

Journal of Medical Case Reports

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Clinical and Molecular Report of Novel GALC Mutations in Moroccan Patient With Krabbe Disease: Case Report

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A Novel TRPS1 Mutation in a Moroccan Family With Tricho-Rhino-Phalangeal Syndrome Type III: Case Report

BMC Medical Genetics

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Down Syndrome Associated With Clinical Manifestations of Kabuki Syndrome: Report of a Case

Jornal de Pediatria

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A Novel BRCA1 Mutation in a Patient With Breast and Ovarian Cancer: A Case Report

Oncology Letters

Cancer Research

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Identification of a Novel Splicing Mutation in the SLC25A13 Gene From a Patient With NICCD: A Case Report

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A Case Report of a Symptomatic Osteopoikilosis Patient Caused by Novel Mutation in LEMD3

Endocrine Abstracts

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Eleven Percent Intact PGM3 in a Severely Immunodeficient Patient With a Novel Splice-Site Mutation, a Case Report

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Primary Amenorrhea in Kabuki Syndrome: A Case Report

International Journal of Anatomy and Research

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