Deepika Burkardt - Dissemin

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All papers authored by Deepika Burkardt

This paper is made freely available by the publisher.

2023 Qizong Lao

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, Deepika D. Burkardt

ORCID

, Sarah Kollender

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, Fabio R. Faucz

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, Deborah P. Merke

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Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera

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2019 Yuri A. Zarate

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, Deepika D'Cunha Burkardt

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, Allyn McConkie‐Rosell, Marie McDonald, Anna Zachariou, John Pappas

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, Christophe Phillipe, Deborah Shears, Brian Skotko, Fiona Stewart, Helen Stewart

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, I. Karen Temple, Ricardo A. Verdugo, Rosanna Weksberg

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, Chey Loveday and 19 other authors

HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals

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