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Author/Creator Metreau, Julia

1. Autosomal recessive primary microcephaly due to ASPM mutations: An update. Issue 3 (16th January 2018)

Authors:
Létard, Pascaline; Drunat, Séverine; Vial, Yoann; Duerinckx, Sarah; Ernault, Anais; Amram, Daniel; Arpin, Stéphanie; Bertoli, Marta; Busa, Tiffany; Ceulemans, Berten; Desir, Julie; Doco‐Fenzy, Martine; Elalaoui, Siham Chafai; Devriendt, Koenraad; Faivre, Laurence; Francannet, Christine; Geneviève...
Journal:
Human mutation
Issue:
Volume 39:Issue 3(2018)
Page Start:
319
Record Type:
Journal Article
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2. Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. (29th October 2015)

Authors:
Di Meglio, Chloé; Lesca, Gaetan; Villeneuve, Nathalie; Lacoste, Caroline; Abidi, Affef; Cacciagli, Pierre; Altuzarra, Cécilia; Roubertie, Agathe; Afenjar, Alexandra; Renaldo‐Robin, Florence; Isidor, Bertrand; Gautier, Agnes; Husson, Marie; Cances, Claude; Metreau, Julia; Laroche, Cécile; Chouchan...
Journal:
Epilepsia
Issue:
Volume 56:issue 12(2015:Dec.)
Page Start:
1931
Record Type:
Journal Article
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3. The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt‐Hopkins syndrome. Issue 6 (16th August 2022)

Authors:
Popp, Bernt; Bienvenu, Thierry; Giurgea, Irina; Metreau, Julia; Kraus, Cornelia; Reis, André; Fischer, Jan; Bralo, María Palomares; Tenorio‐Castaño, Jair; Lapunzina, Pablo; Almoguera, Berta; Lopez‐Grondona, Fermina; Sticht, Heinrich; Zweier, Christiane
Journal:
Clinical genetics
Issue:
Volume 102:Issue 6(2022)
Page Start:
517
Record Type:
Journal Article
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