Publications by authors named "German Biagioli"

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Study of the impact of ClinGen Revisions on ACMG/AMP variant semi-automatic classification for Rare Diseases diagnosis.
Ana Rius, Nicolas Aguirre, Lorenzo Erra, Franco Gino Brunello, German Biagioli

Clin Chim Acta· January 2025

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Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing.
Rodrigo Mendez, Sumaiya Iqbal, Sebastián Vishnopolska, Cinthia Martinez, Glenda Dibner, Germán Biagioli

Ophthalmic Genet· June 2021

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Inflammatory cutaneous lesions and pulmonary manifestations in a new patient with autosomal recessive ISG15 deficiency case report.
Guadalupe Buda, Rita María Valdez, German Biagioli, Federico A Olivieri, Nicolás Affranchino

Allergy Asthma Clin Immunol· September 2020

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Spastic ataxia with eye-of-the-tiger-like sign in 4 siblings due to novel compound heterozygous AFG3L2 mutation.
Cristian R Calandra, Guadalupe Buda, Sebastian A Vishnopolska, Jaen Oliveri, Federico A Olivieri, German Biagioli

Parkinsonism Relat Disord· April 2020

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Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings.
Cristian R Calandra, Yamile Mocarbel, Sebastian A Vishnopolska, Vanessa Toneguzzo, Jaen Oliveri, German Biagioli

Mov Disord Clin Pract· March 2019

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