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PURA Syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

PURA Syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
PURA Syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
0022-2593
Reijnders, Margot R.F.
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Janowski, Robert
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Alvi, Mohsan
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Self, James
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van Essen, Ton J.
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Vreeburg, Maaike
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Rouhl, Rob P.W.
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Stevens, Servi J.C.
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Schieving, Jolanda
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van Dijk, Katinke
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Bok, Levinus A.
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Engelen, Marc
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Mansour, Sahar
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Whiteford, Margot
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Chandler, Kate E.
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Douzgou, Sofia
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Cooper, Nicola S.
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Tan, Ene-Choo
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Foo, Roger
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Lai, Angeline H.M.
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Rankin, Julia
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Green, Andrew
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Lonnqvist, Tuula
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Isohanni, Pirjo
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Williams, Sheeley
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Ruhoy, Ilene
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Carvalho, Karen S.
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Dowling, James J.
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Lev, Dorit L.
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Sterbova, Katalin
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Lassuthova, Petra
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Neupauerova, Jana
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Waugh, Jeff L.
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Keros, Sotirios
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Clayton-Smith, Jull
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Smithson, Sarah F.
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Brunner, Han G.
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van Hoeckel, Ceciel
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Anderson, Mel
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Clowes, Virginia E.
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Mok Siu, Victoria
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Selber, Paulo
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Leventer, Richard J.
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Nellaker, Christoffer
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Niessing, Dierk
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Hunt, David
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Baralle, Diana
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Reijnders, Margot R.F.
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Janowski, Robert
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Alvi, Mohsan
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Self, James
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van Essen, Ton J.
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Vreeburg, Maaike
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Rouhl, Rob P.W.
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Stevens, Servi J.C.
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Stegmann, Alexander P.A.
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Schieving, Jolanda
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Pfundt, Rolph
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van Dijk, Katinke
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Smeets, Eric
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Stumpel, Connie T.R.M.
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Bok, Levinus A.
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Cobben, Jan Maarten
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Engelen, Marc
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Mansour, Sahar
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Whiteford, Margot
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Chandler, Kate E.
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Douzgou, Sofia
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Cooper, Nicola S.
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Tan, Ene-Choo
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Foo, Roger
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Lai, Angeline H.M.
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Rankin, Julia
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Green, Andrew
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Lonnqvist, Tuula
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Isohanni, Pirjo
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Williams, Sheeley
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Ruhoy, Ilene
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Carvalho, Karen S.
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Dowling, James J.
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Lev, Dorit L.
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Sterbova, Katalin
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Lassuthova, Petra
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Neupauerova, Jana
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Waugh, Jeff L.
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Keros, Sotirios
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Clayton-Smith, Jull
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Smithson, Sarah F.
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Brunner, Han G.
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van Hoeckel, Ceciel
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Anderson, Mel
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Clowes, Virginia E.
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Mok Siu, Victoria
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Selber, Paulo
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Leventer, Richard J.
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Nellaker, Christoffer
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Niessing, Dierk
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Hunt, David
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Baralle, Diana
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Reijnders, Margot R.F., Janowski, Robert, Alvi, Mohsan, Self, James, van Essen, Ton J., Vreeburg, Maaike, Rouhl, Rob P.W., Stevens, Servi J.C., Stegmann, Alexander P.A., Schieving, Jolanda, Pfundt, Rolph, van Dijk, Katinke, Smeets, Eric, Stumpel, Connie T.R.M., Bok, Levinus A., Cobben, Jan Maarten, Engelen, Marc, Mansour, Sahar, Whiteford, Margot, Chandler, Kate E., Douzgou, Sofia, Cooper, Nicola S., Tan, Ene-Choo, Foo, Roger, Lai, Angeline H.M., Rankin, Julia, Green, Andrew, Lonnqvist, Tuula, Isohanni, Pirjo, Williams, Sheeley, Ruhoy, Ilene, Carvalho, Karen S., Dowling, James J., Lev, Dorit L., Sterbova, Katalin, Lassuthova, Petra, Neupauerova, Jana, Waugh, Jeff L., Keros, Sotirios, Clayton-Smith, Jull, Smithson, Sarah F., Brunner, Han G., van Hoeckel, Ceciel, Anderson, Mel, Clowes, Virginia E., Mok Siu, Victoria, Selber, Paulo, Leventer, Richard J., Nellaker, Christoffer, Niessing, Dierk, Hunt, David and Baralle, Diana (2017) PURA Syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature Journal of Medical Genetics (doi:10.1136/jmedgenet-2017-104946).

Record type: Article
Text PURA Syndrome_revision1_main document - Accepted Manuscript
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Text SUPPLEMENTAL METHODS_revision 1 - Accepted Manuscript
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More information

Accepted/In Press date: 13 September 2017
e-pub ahead of print date: 2 November 2017

Identifiers

Local EPrints ID: 414245
URI: http://eprints.soton.ac.uk/id/eprint/414245
ISSN: 0022-2593
PURE UUID: 6240fd40-3b97-4cf3-b7b8-4cbbce7ea4b3
ORCID for James Self: ORCID iD orcid.org/0000-0002-1030-9963

Catalogue record

Date deposited: 20 Sep 2017 16:31
Last modified: 13 Dec 2017 05:01

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Contributors

Author: Margot R.F. Reijnders
Author: Robert Janowski
Author: Mohsan Alvi
Author: James Self ORCID iD
Author: Ton J. van Essen
Author: Maaike Vreeburg
Author: Rob P.W. Rouhl
Author: Servi J.C. Stevens
Author: Alexander P.A. Stegmann
Author: Jolanda Schieving
Author: Rolph Pfundt
Author: Katinke van Dijk
Author: Eric Smeets
Author: Connie T.R.M. Stumpel
Author: Levinus A. Bok
Author: Jan Maarten Cobben
Author: Marc Engelen
Author: Sahar Mansour
Author: Margot Whiteford
Author: Kate E. Chandler
Author: Sofia Douzgou
Author: Nicola S. Cooper
Author: Ene-Choo Tan
Author: Roger Foo
Author: Angeline H.M. Lai
Author: Julia Rankin
Author: Andrew Green
Author: Tuula Lonnqvist
Author: Pirjo Isohanni
Author: Sheeley Williams
Author: Ilene Ruhoy
Author: Karen S. Carvalho
Author: James J. Dowling
Author: Dorit L. Lev
Author: Katalin Sterbova
Author: Petra Lassuthova
Author: Jana Neupauerova
Author: Jeff L. Waugh
Author: Sotirios Keros
Author: Jull Clayton-Smith
Author: Sarah F. Smithson
Author: Han G. Brunner
Author: Ceciel van Hoeckel
Author: Mel Anderson
Author: Virginia E. Clowes
Author: Victoria Mok Siu
Author: Paulo Selber
Author: Richard J. Leventer
Author: Christoffer Nellaker
Author: Dierk Niessing
Author: David Hunt
Author: Diana Baralle

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