Search Results - "Assoumani, Jessica"

Skraban-Deardorff Syndrome: six new cases of WDR26-related disease and expansion of the clinical phenotype by Cospain, Auriane, Schaefer, Elise, Faoucher, Marie, Dubourg, Christèle, Carré, Wilfrid, Bizaoui-Rambhajunsing, Varoona, Assoumani, Jessica, van Maldergem, Lionel, Piton, Amélie, Gerard, Bénédicte, Mau-Them, Frédéric Tran, Bruel, Ange-Line, Faivre, Laurence, Demurger, Florence, Pasquier, Laurent, Odent, Sylvie, Fradin, Melanie, Lavillaureix, Alinoe

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Skraban‐Deardorff syndrome: Six new cases of WDR 26 ‐related disease and expansion of the clinical phenotype by Cospain, Auriane, Schaefer, Elise, Faoucher, Marie, Dubourg, Christèle, Carré, Wilfrid, Bizaoui, Varoona, Assoumani, Jessica, Van Maldergem, Lionel, Piton, Amélie, Gérard, Bénédicte, Tran Mau‐Them, Frédéric, Bruel, Ange‐Line, Faivre, Laurence, Demurger, Florence, Pasquier, Laurent, Odent, Sylvie, Fradin, Mélanie, Lavillaureix, Alinoë

“…Abstract Skraban‐Deardorff syndrome (a disease related to variations in the WDR26 gene; OMIM #617616) was first described in a cohort of 15 individuals in…”
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Skraban‐Deardorff syndrome: Six new cases of WDR26‐related disease and expansion of the clinical phenotype by Cospain, Auriane, Schaefer, Elise, Faoucher, Marie, Dubourg, Christèle, Carré, Wilfrid, Bizaoui, Varoona, Assoumani, Jessica, Van Maldergem, Lionel, Piton, Amélie, Gérard, Bénédicte, Tran Mau‐Them, Frédéric, Bruel, Ange‐Line, Faivre, Laurence, Demurger, Florence, Pasquier, Laurent, Odent, Sylvie, Fradin, Mélanie, Lavillaureix, Alinoë

“…Skraban‐Deardorff syndrome (a disease related to variations in the WDR26 gene; OMIM #617616) was first described in a cohort of 15 individuals in 2017. The…”
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EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder by Lévy, Jonathan, Schell, Bérénice, Nasser, Hala, Rachid, Myriam, Ruaud, Lyse, Couque, Nathalie, Callier, Patrick, Faivre, Laurence, Marle, Nathalie, Engwerda, Aafke, Ravenswaaij‐Arts, Conny M. A., Plutino, Morgane, Karmous‐Benailly, Houda, Benech, Caroline, Redon, Sylvia, Boute, Odile, Boudry Labis, Elise, Rama, Mélanie, Kuentz, Paul, Assoumani, Jessica, Maldergem, Lionel Van, Dupont, Céline, Verloes, Alain, Tabet, Anne‐Claude

“…Ephrin receptor and their ligands, the ephrins, are widely expressed in the developing brain. They are implicated in several developmental processes that are…”
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