Résultat de recherche

Early-onset autoimmunity associated with SOCS1 haploinsufficiency.

Jérome Hadjadj, Marie-Claude Stolzenberg, Fabienne Mazerolles, Alain Fischer, Bénédicte Neven, Frédéric Rieux-Laucat

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Generation of an induced pluripotent stem cell (iPSC) line (IMAGINi007) from a patient with steroid-resistant nephrotic syndrome carrying the homozygous p.R138Q mutation in the podocin-encoding NPHS2 gene.

Giulia Menara, Nathalie Lefort, Corinne Antignac, Géraldine Mollet

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Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 missense mutation and presenting with deafness, depigmentation and progressive neurological impairment.

Céline BANAL, Eddy Quelennec, Jeanne Amiel, Sandrine Marlin, Véronique Pingault, Nathalie Lefort, Nadège Bondurand

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Generation of two induced pluripotent stem cell lines IMAGINi004-A and IMAGINi005-A from healthy donors.

Eddy Quelennec, Céline BANAL, Marie MICHAEL, Nathalie Lefort

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Rest Functional Brain Maturation during the First Year of Life.

Hervé Lemaître, Pierre Augé, Ana Saitovitch, Alice Vinçon-Leite, Jean-Marc Tacchella, Ludovic Fillon, Nathalie Boddaert, Monica Zilbovicius , Volodia Dangouloff-Ros, Raphaël Levy, David Grévent

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Genotype-phenotype correlations in individuals with pathogenic RERE variants.

Marlène Rio, Nathalie Boddaert, Vincent Cantagrel

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