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Martin Chevarin
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SCHOLARLY PAPERS
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Scholarly Papers (1)
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1.
A Genotype-First Approach in Individuals with Variable Intellectual Disability Permits BRWD3 Mutations’ Diagnosis
Number of pages: 13
Posted: 22 Jul 2022
Julian Delanne
,
Magali Lecat
,
Patrick Blackburn
,
Eric Klee
,
Constance Stumpel
,
Sander Stegmann
,
Servi Stevens
,
Caroline Nava
,
Delphine Heron
,
Boris Keren
,
Sonal Mahida
,
Sakkubai Naidu
,
Dusica Babovic-Vuksanovic
,
Johanna Herkert
,
Pernille Toerring
,
Maria Kibæk
,
Isabelle De Bie
,
Rolph Pfundt
,
Yvonne Hendriks
,
Lilian Bomme Ousager
,
Renee Bend
,
Hannah Warren
,
Steve Skinner
,
Michael Lyons
,
Charlotte Poe
, Martin Chevarin,
Thibaud Jouan
,
Aurore Garde
,
Quentin Thomas
,
Paul Kuentz
,
Emilie Tisserant
,
Yannis Duffourd
,
Christophe Philippe
,
Laurence Faivre
and
Christel Thauvin
University of Dijon - Reference center “Intellectual disabilities from rare causes”,
affiliation not provided to SSRN
,
affiliation not provided to SSRN
, Mayo Clinic,
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,
affiliation not provided to SSRN
,
affiliation not provided to SSRN
,
affiliation not provided to SSRN
,
affiliation not provided to SSRN
,
affiliation not provided to SSRN
, Johns Hopkins University - Kennedy Krieger Institute, Johns Hopkins University - Kennedy Krieger Institute,
affiliation not provided to SSRN
,
affiliation not provided to SSRN
, Odense University Hospital, Odense University Hospital, McGill University - McGill University Health Centre,
affiliation not provided to SSRN
,
affiliation not provided to SSRN
, Odense University Hospital,
affiliation not provided to SSRN
,
affiliation not provided to SSRN
,
affiliation not provided to SSRN
,
affiliation not provided to SSRN
,
affiliation not provided to SSRN
,
affiliation not provided to SSRN
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affiliation not provided to SSRN
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affiliation not provided to SSRN
,
affiliation not provided to SSRN
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affiliation not provided to SSRN
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affiliation not provided to SSRN
,
affiliation not provided to SSRN
,
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,
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and University of Dijon - Reference center “Intellectual disabilities from rare causes”
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Abstract:
BRWD3, Intellectual disability, macrocephaly, obesity
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