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Further refinement of COL4A1 and COL4A2 related cortical malformations
Cavallin, Mara, Mine, Manuele, Philbert, Marion, Boddaert, Nathalie, Lepage, Jean Marie, Coste, Thibault, Lopez-Gonzalez, Vanessa, Sanchez-Soler, Maria Jose, Ballesta-Martínez, Maria Juliana, Remerand, Ganaëlle, Pasquier, Laurent, Guët, Agnès, Chelly, Jamel, Lascelles, Karine, Prieto-Morin, Carol, Kossorotoff, Manoelle, Tournier Lasserve, Elisabeth, Bahi-Buisson, Nadia
Published in European journal of medical genetics (01.12.2018)
Published in European journal of medical genetics (01.12.2018)
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Journal Article
A novel recurrent LIS1 splice site mutation in classic lissencephaly
Philbert, Marion, Maillard, Camille, Cavallin, Mara, Goldenberg, Alice, Masson, Cecile, Boddaert, Nathalie, El Morjani, Adrienne, Steffann, Julie, Chelly, Jamel, Gerard, Xavier, Bahi‐Buisson, Nadia
Published in American journal of medical genetics. Part A (01.02.2017)
Published in American journal of medical genetics. Part A (01.02.2017)
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Journal Article
Mutations in TBR1 gene leads to cortical malformations and intellectual disability
Vegas, Nancy, Cavallin, Mara, Kleefstra, Tjitske, de Boer, Lonneke, Philbert, Marion, Maillard, Camille, Boddaert, Nathalie, Munnich, Arnold, Hubert, Laurence, Bery, Amandine, Besmond, Claude, Bahi-Buisson, Nadia
Published in European journal of medical genetics (01.12.2018)
Published in European journal of medical genetics (01.12.2018)
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Journal Article
TLE1, a key player in neurogenesis, a new candidate gene for autosomal recessive postnatal microcephaly
Cavallin, Mara, Maillard, Camille, Hully, Marie, Philbert, Marion, Boddaert, Nathalie, Reilly, Madeline Louise, Nitschké, Patrick, Bery, Amandine, Bahi-Buisson, Nadia
Published in European journal of medical genetics (01.12.2018)
Published in European journal of medical genetics (01.12.2018)
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Journal Article
Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation
Maillard, Camille, Cavallin, Mara, Piquand, Kevin, Philbert, Marion, Bault, Jean Philippe, Millischer, Anne Elodie, Moshous, Despina, Rio, Marlène, Gitiaux, Cyril, Boddaert, Nathalie, Masson, Cecile, Thomas, Sophie, Bahi‐Buisson, Nadia
Published in American journal of medical genetics. Part A (01.03.2017)
Published in American journal of medical genetics. Part A (01.03.2017)
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Journal Article
A novel recurrent LIS1 splice site mutation in classic lissencephaly
Philbert, Marion, Maillard, Camille, Cavallin, Mara, Goldenberg, Alice, Masson, Cecile, Boddaert, Nathalie, El Morjani, Adrienne, Steffann, Julie, Chelly, Jamel, Gerard, Xavier, Bahi‐Buisson, Nadia
Published in American journal of medical genetics. Part A (01.02.2017)
Published in American journal of medical genetics. Part A (01.02.2017)
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Journal Article