Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Julia Lauer Zillhardt"'
Autor:
Marie-France Portnoï, Alexandre Reymond, Sandra Chantot-Bastaraud, Giuliana Giannuzzi, Eleonora Porcu, Yvan Herenger, Flavie Ader, Tony Yammine, Patrick Edery, Pierre-Antoine Rollat-Farnier, Flavie Diguet, Laurence Faivre, Alice Masurel-Paulet, Nathalie Marle, Kévin Uguen, Claire Bardel, Julia Lauer Zillhardt, Alistair T. Pagnamenta, Nicolas Chatron, Jenny C. Taylor, Stéphanie Valence, Andrew O.M. Wilkie, Solveig Heide, Emilie Chopin, Fabienne Prieur, Nora Chelloug, Christèle Dubourg, Marlène Rio, Eduardo Calpena, Zohra-Lydia Bellil, Arthur Sorlin, Laurence Lohmann, Sylvie Jaillard, Alexandra Afenjar, Corinne Metay, Jean-Pierre Siffroi, Damien Sanlaville, Marie-Pierre Cordier, Boris Keren, Françoise Girard, Caroline Schluth-Bolard, Joris Andrieux, Samantha J. L. Knight, Reza Maroofian, James Lespinasse, Michèle Mathieu-Dramard, Patrick Callier
The rise of pangenomic molecular assays allowed uncovering complex rearrangements named chromoanagenesis that were hypothesized to result from catastrophic shattering events. Constitutional cases have typically been reported individually preventing i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fbb06baaefddfcce5f3b63fb41a59581
https://doi.org/10.1101/2020.07.17.206771
https://doi.org/10.1101/2020.07.17.206771
Autor:
Anna Kaminska, Nadia Bahi-Buisson, Svetlana Gataullina, Louise Galmiche-Rolland, Chris Ottolenghi, Clément Pontoizeau, Julia Lauer-Zillhardt, Catherine Fallet-Bianco, Olivier Dulac
Publikováno v:
Neuropediatrics. 47:399-403
We report the cases of a brother and a sister of nonconsanguineous parents who developed progressive microcephaly and had tremor, irritability, spasticity, startle reflexes, and permanent erratic myoclonus since birth. Focal clonic seizures, status e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f518cae9aab215df99cb4e48dc0a4350
https://doi.org/10.1055/s-0036-1586222
https://doi.org/10.1055/s-0036-1586222
Autor:
François Artiguenave, Jamel Chelly, Bettina Bessières, Imen Rejeb, Catherine Fallet-Bianco, Giuseppe Muraca, Catheline Vilain, Adrienne Elmorjani, Nadia Bahi-Buisson, Nicolas Lebrun, Hélène Maurey, Julia Lauer Zillhardt, Sylvie Odent, Yuri Musizzano, Karine Poirier, Nicole Philip, David Geneviève, Cécile Masson, Stanislas Lyonnet, Yoann Saillour, Robert Olaso, Jelena Martinovic, Jean-François Deleuze, Lucile Pinson, Lamia Ben Jemaa, François Rivier, Juliette Nectoux, Patrick Van Bogaert, Anne Boland, Fabienne Giuliano, Patrick Nitschke, Loic Broix, Nicolas Leboucq, Cherif Beldjord, Nicole Bigi, Olivier Dulac
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (4), pp.611--614. ⟨10.1038/ejhg.2015.192⟩
European Journal of Human Genetics, 2016, 24 (4), pp.611--614. ⟨10.1038/ejhg.2015.192⟩
European journal of human genetics: EJHG
European journal of human genetics: EJHG, 2016, 24 (4), pp.611--614. 〈10.1038/ejhg.2015.192〉
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (4), pp.611--614. ⟨10.1038/ejhg.2015.192⟩
European Journal of Human Genetics, 2016, 24 (4), pp.611--614. ⟨10.1038/ejhg.2015.192⟩
European journal of human genetics: EJHG
European journal of human genetics: EJHG, 2016, 24 (4), pp.611--614. 〈10.1038/ejhg.2015.192〉
International audience; To unravel missing genetic causes underlying monogenic disorders with recurrence in sibling, we explored the hypothesis of parental germline mosaic mutations in familial forms of malformation of cortical development (MCD). Int
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee22a5e993baf359272d5a22b52a26ee
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01313739
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01313739