Publications by authors named "Snir Boniel"

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Clinical and molecular characteristics of Kabuki syndrome patients with missense variants-novel features and literature review.
Snir Boniel, Maria Krajewska, Beata Pyrżak, Monika Paluchowska, Anna Majcher

Front Genet· July 2024

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Kabuki Syndrome-Clinical Review with Molecular Aspects.
Snir Boniel, Krystyna Szymańska, Robert Śmigiel, Krzysztof Szczałuba

Genes (Basel)· March 2021

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Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients.
Aleksandra Jezela-Stanek, Elżbieta Szczepanik, Hanna Mierzewska, Małgorzata Rydzanicz, Karolina Rutkowska, Snir Boniel

Clin Genet· November 2020

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Clinico-pathological correlation in case of BRAT1 mutation.
Krystyna Szymańska, Milena Laure-Kamionowska, Krzysztof Szczałuba, Agnieszka Koppolu, Mariusz Furmanek, Snir Boniel

Folia Neuropathol· May 2019

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Autoimmune Neurological Disorder with Anti-Ma2/Ta Antibodies in a Pediatric Patient.
Snir Boniel, Anetta Jeziorek, Małgorzata Woźniak, Elżbieta Lipińska, Elżbieta Szczepanik

Isr Med Assoc J· October 2018

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