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Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders

Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10801341

Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders

About this item

Full title

Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders

Author / Creator

Xtraordinaire , GENIDA Project , Ruault, Valentin , Burger, Pauline , Gradels‐Hauguel, Johanna , Ruiz, Nathalie , Jamra, Rami Abou , Afenjar, Alexandra , Alembik, Yves , Alessandri, Jean‐Luc , Arpin, Stéphanie , Barcia, Giulia , Bendová, Šárka , Bruel, Ange‐Line , Charles, Perrine , Chatron, Nicolas , Chopra, Maya , Conrad, Solène , Daire, Valérie Cormier , Cospain, Auriane , Coubes, Christine , Coursimault, Juliette , Delahaye‐Duriez, Andrée , Doco, Martine , Dufour, William , Durand, Benjamin , Engel, Camille , Faivre, Laurence , Ferroul, Fanny , Fradin, Mélanie , Frenkiel, Hélène , Fusco, Carlo , Garavelli, Livia , Garde, Aurore , Gerard, Bénédicte , Germanaud, David , Goujon, Louise , Gouronc, Aurélie , Ginglinger, Emmanuelle , Goldenberg, Alice , Hancarova, Miroslava , Havlovicová, Markéta , Heron, Delphine , Isidor, Bertrand , Marçais, Nolwenn Jean , Keren, Boris , Koch‐Hogrebe, Margarete , Kuentz, Paul , Lamure, Victoria , Lebre, Anne‐Sophie , Lecoquierre, François , Lehman, Natacha , Lesca, Gaetan , Lyonnet, Stanislas , Martin, Delphine , Mignot, Cyril , Neuhann, Teresa M. , Nicolas, Gaël , Nizon, Mathilde , Petit, Florence , Philippe, Christophe , Piton, Amélie , Pollazzon, Marzia , Prchalová, Darina , Putoux, Audrey , Rio, Marlène , Rondeau, Sophie , Rossi, Massimiliano , Sabbagh, Quentin , Saugier‐Veber, Pascale , Schmetz, Ariane , Steffann, Julie , Thauvin‐Robinet, Christel , Toutain, Annick , Them, Frederic Tran Mau , Trimarchi, Gabriele , Vincent, Marie , Vlčková, Markéta , Wieczorek, Dagmar , Willems, Marjolaine , Yauy, Kevin , Zelinová, Michaela , Ziegler, Alban , Chaumette, Boris , Sadikovic, Bekim , Mandel, Jean‐Louis and Geneviève, David

Publisher

United States: John Wiley & Sons, Inc

Journal title

Molecular Genetics & Genomic Medicine, 2024-01, Vol.12 (1), p.e2363-n/a

Language

English

Formats

Publication information

Publisher

United States: John Wiley & Sons, Inc

More information

Scope and Contents

Contents

Introduction and Methods
We report two series of individuals with DDX3X variations, one (48 individuals) from physicians and one (44 individuals) from caregivers.
Results
These two series include several symptoms in common, with fairly similar distribution, which suggests that caregivers' data are close to physicians' data. For example, bo...

Alternative Titles

Full title

Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders

Authors, Artists and Contributors

Author / Creator

Xtraordinaire
GENIDA Project
Ruault, Valentin
Burger, Pauline
Gradels‐Hauguel, Johanna
Ruiz, Nathalie
Jamra, Rami Abou
Afenjar, Alexandra
Alembik, Yves
Alessandri, Jean‐Luc
Arpin, Stéphanie
Barcia, Giulia
Bendová, Šárka
Bruel, Ange‐Line
Charles, Perrine
Chatron, Nicolas
Chopra, Maya
Conrad, Solène
Daire, Valérie Cormier
Cospain, Auriane
Coubes, Christine
Coursimault, Juliette
Delahaye‐Duriez, Andrée
Doco, Martine
Dufour, William
Durand, Benjamin
Engel, Camille
Faivre, Laurence
Ferroul, Fanny
Fradin, Mélanie
Frenkiel, Hélène
Fusco, Carlo
Garavelli, Livia
Garde, Aurore
Gerard, Bénédicte
Germanaud, David
Goujon, Louise
Gouronc, Aurélie
Ginglinger, Emmanuelle
Goldenberg, Alice
Hancarova, Miroslava
Havlovicová, Markéta
Heron, Delphine
Isidor, Bertrand
Marçais, Nolwenn Jean
Keren, Boris
Koch‐Hogrebe, Margarete
Kuentz, Paul
Lamure, Victoria
Lebre, Anne‐Sophie
Lecoquierre, François
Lehman, Natacha
Lesca, Gaetan
Lyonnet, Stanislas
Martin, Delphine
Mignot, Cyril
Neuhann, Teresa M.
Nicolas, Gaël
Nizon, Mathilde
Petit, Florence
Philippe, Christophe
Piton, Amélie
Pollazzon, Marzia
Prchalová, Darina
Putoux, Audrey
Rio, Marlène
Rondeau, Sophie
Rossi, Massimiliano
Sabbagh, Quentin
Saugier‐Veber, Pascale
Schmetz, Ariane
Steffann, Julie
Thauvin‐Robinet, Christel
Toutain, Annick
Them, Frederic Tran Mau
Trimarchi, Gabriele
Vincent, Marie
Vlčková, Markéta
Wieczorek, Dagmar
Willems, Marjolaine
Yauy, Kevin
Zelinová, Michaela
Ziegler, Alban
Chaumette, Boris
Sadikovic, Bekim
Mandel, Jean‐Louis
Geneviève, David

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10801341

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10801341

Other Identifiers

ISSN

2324-9269

E-ISSN

2324-9269

DOI

10.1002/mgg3.2363

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