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Search Results - Tharreau, Mylene
Search Results - Tharreau, Mylene
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Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity
by
Kalm, Tassja
,
Schob, Claudia
,
Völler, Hanna
,
Gardeitchik, Thatjana
,
Gilissen, Christian
,
Pfundt, Rolph
,
Klöckner, Chiara
,
Platzer, Konrad
,
Klabunde-Cherwon, Annick
,
Ries, Markus
,
Syrbe, Steffen
,
Beccaria, Francesca
,
Madia, Francesca
,
Scala, Marcello
,
Zara, Federico
,
Hofstede, Floris
,
Simon, Marleen E.H.
,
van Jaarsveld, Richard H.
,
Oegema, Renske
,
van Gassen, Koen L.I.
,
Holwerda, Sjoerd J.B.
,
Barakat, Tahsin Stefan
,
Bouman, Arjan
,
van Slegtenhorst, Marjon
,
Álvarez, Sara
,
Fernández-Jaén, Alberto
,
Porta, Javier
,
Accogli, Andrea
,
Mancardi, Margherita Maria
,
Striano, Pasquale
,
Iacomino, Michele
,
Chae, Jong-Hee
,
Jang, SeSong
,
Kim, Soo Y.
,
Chitayat, David
,
Mercimek-Andrews, Saadet
,
Depienne, Christel
,
Kampmeier, Antje
,
Kuechler, Alma
,
Surowy, Harald
,
Bertini, Enrico Silvio
,
Radio, Francesca Clementina
,
Mancini, Cecilia
,
Pizzi, Simone
,
Tartaglia, Marco
,
Gauthier, Lucas
,
Genevieve, David
,
Tharreau, Mylène
,
Azoulay, Noy
,
Zaks-Hoffer, Gal
,
Gilad, Nesia K.
,
Orenstein, Naama
,
Bernard, Geneviève
,
Thiffault, Isabelle
,
Denecke, Jonas
,
Herget, Theresia
,
Kortüm, Fanny
,
Kubisch, Christian
,
Bähring, Robert
,
Kindler, Stefan
Published in
American journal of human genetics
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Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital’s perspective
by
Wells, Constance F
,
Boursier, Guilaine
,
Yauy, Kevin
,
Ruiz-Pallares, Nathalie
,
Mechin, Déborah
,
Ruault, Valentin
,
Tharreau, Mylène
,
Blanchet, Patricia
,
Pinson, Lucile
,
Coubes, Christine
,
Fila, Marc
,
Baleine, Julien
,
Pidoux, Odile
,
Badr, Maliha
,
Milesi, Christophe
,
Cambonie, Gilles
,
Mesnage, Renaud
,
Dereure, Maëlle
,
Ardouin, Olivier
,
Guignard, Thomas
,
Geneviève, David
,
Barat-Houari, Mouna
,
Willems, Marjolaine
Published in
European journal of human genetics : EJHG
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Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly
by
Sabbagh, Quentin
,
Tharreau, Mylène
,
Cenni, Camille
,
Sanchez, Elodie
,
Ruiz-Pallares, Nathalie
,
Alkar, Fanny
,
Amouroux, Cyril
,
David, Stéphanie
,
Prodhomme, Olivier
,
Leboucq, Nicolas
,
Meunier, Isabelle
,
Bessis, Didier
,
Theron, Alexandre
,
Barat-Houari, Mouna
,
Willems, Marjolaine
Published in
European journal of medical genetics
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Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D
by
Tharreau, Mylène
,
Garde, Aurore
,
Marlin, Sandrine
,
Morel, Godelieve
,
Ernest, Sylvain
,
Nambot, Sophie
,
Duffourd, Yannis
,
Ternoy, Ninon
,
Duvillard, Christian
,
Banka, Siddharth
,
Philippe, Christophe
,
Thauvin‐Robinet, Christel
,
Mau‐Them, Frederic Tran
,
Faivre, Laurence
Published in
American journal of medical genetics. Part A
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Mosaic EGFR exon 20 in-frame insertion pathogenic variants are associated with papular epidermal naevus with 'skyline' basal cell layer (PENS)
by
Bessis, Didier
,
Poujade, Laura
,
Cossée, Mireille
,
Boursier, Guilaine
,
Barat-Houari, Mouna
,
Tharreau, Mylene
,
Durand, Luc
,
Aguilar, Simon-Cabello
,
Solassol, Jérome
,
Willems, Marjolaine
,
Vendrell, Julie
Published in
British journal of dermatology (1951)
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Mosaic EGFR exon 20 in-frame insertion pathogenic variants are associated with papular epidermal nevus with “skyline” basal cell layer (PENS)
by
Bessis, Didier
,
Poujade, Laura
,
Cossée, Mireille
,
Boursier, Guilaine
,
Barat-Houari, Mouna
,
Tharreau, Mylene
,
Durand, Luc
,
Aguilar, Simon Cabello
,
Solassol, Jérome
,
Willems, Marjolaine
,
Vendrell, Julie
Published in
British journal of dermatology (1951)
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Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D
by
Tharreau, Mylène
,
Garde, Aurore
,
Marlin, Sandrine
,
Morel, Godelieve
,
Ernest, Sylvain
,
Nambot, Sophie
,
Duffourd, Yannis
,
Ternoy, Ninon
,
Duvillard, Christian
,
Banka, Siddharth
,
Philippe, Christophe
,
Thauvin-Robinet, Christel
,
Mau-Them, Frederic Tran
,
Faivre, Laurence
Published in
American journal of medical genetics. Part A
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