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Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst. [electronic resource] by
- Mignon-Ravix, Cécile
- Milh, Mathieu
- Kaiser, Charlotte Sophia
- Daniel, Jens
- Riccardi, Florence
- Cacciagli, Pierre
- Nagara, Majdi
- Busa, Tiffany
- Liebau, Eva
- Villard, Laurent
Producer: 20190614
In:
Human mutation vol. 39
Availability: No items available.
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13.
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Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: a distinct MCA/MR syndrome. [electronic resource] by
- Mégarbané, André
- Chouery, Eliane
- Mignon-Ravix, Cécile
- El Sabbagh, Sandra
- Corbani, Sandra
- Ghoch, Joelle Abou
- Jalkh, Nadine
- Mehawej, Cybel
- Lévy, Nicolas
- Villard, Laurent
Producer: 20110801
In:
American journal of medical genetics. Part A vol. 155A
Availability: No items available.
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14.
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Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients. [electronic resource] by
- Choucair, Nancy
- Ghoch, Joelle Abou
- Corbani, Sandra
- Cacciagli, Pierre
- Mignon-Ravix, Cecile
- Salem, Nabiha
- Jalkh, Nadine
- El Sabbagh, Sandra
- Fawaz, Ali
- Ibrahim, Tony
- Villard, Laurent
- Mégarbané, André
- Chouery, Eliane
Producer: 20150429
In:
Molecular cytogenetics vol. 8
Availability: No items available.
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15.
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Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations. [electronic resource] by
- Mignon-Ravix, Cécile
- Depetris, Danielle
- Luciani, Judith J
- Cuoco, Cristina
- Krajewska-Walasek, Malgorzata
- Missirian, Chantal
- Collignon, Patrick
- Delobel, Bruno
- Croquette, Marie-Françoise
- Moncla, Anne
- Kroisel, Peter M
- Mattei, Marie-Geneviève
Producer: 20070622
In:
European journal of human genetics : EJHG vol. 15
Availability: No items available.
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16.
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PML nuclear bodies are highly organised DNA-protein structures with a function in heterochromatin remodelling at the G2 phase. [electronic resource] by
- Luciani, Judith J
- Depetris, Danielle
- Usson, Yves
- Metzler-Guillemain, Catherine
- Mignon-Ravix, Cecile
- Mitchell, Micheal J
- Megarbane, Andre
- Sarda, Pierre
- Sirma, Huseyin
- Moncla, Anne
- Feunteun, Jean
- Mattei, Marie-Genevieve
Producer: 20061025
In:
Journal of cell science vol. 119
Availability: No items available.
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17.
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Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes. [electronic resource] by
- Mignon-Ravix, Cécile
- Cacciagli, Pierre
- Choucair, Nancy
- Popovici, Cornel
- Missirian, Chantal
- Milh, Mathieu
- Mégarbané, André
- Busa, Tiffany
- Julia, Sophie
- Girard, Nadine
- Badens, Catherine
- Sigaudy, Sabine
- Philip, Nicole
- Villard, Laurent
Producer: 20150331
In:
American journal of medical genetics. Part A vol. 164A
Availability: No items available.
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18.
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Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations. [electronic resource] by
- Milh, Mathieu
- Villeneuve, Nathalie
- Chouchane, Mondher
- Kaminska, Anna
- Laroche, Cécile
- Barthez, Marie Anne
- Gitiaux, Cyril
- Bartoli, Céline
- Borges-Correia, Ana
- Cacciagli, Pierre
- Mignon-Ravix, Cécile
- Cuberos, Hélène
- Chabrol, Brigitte
- Villard, Laurent
Producer: 20111129
In:
Epilepsia vol. 52
Availability: No items available.
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19.
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Mosaicism of XX and XXY cells accounts for high copy number of Toll like Receptor 7 and 8 genes in peripheral blood of men with Rheumatoid Arthritis. [electronic resource] by
- Martin, Gabriel V
- Kanaan, Sami B
- Hemon, Marie F
- Azzouz, Doua F
- El Haddad, Marina
- Balandraud, Nathalie
- Mignon-Ravix, Cécile
- Picard, Christophe
- Arnoux, Fanny
- Martin, Marielle
- Roudier, Jean
- Auger, Isabelle
- Lambert, Nathalie C
Producer: 20201102
In:
Scientific reports vol. 9
Availability: No items available.
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20.
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Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures. [electronic resource] by
- Denis, Julien
- Villeneuve, Nathalie
- Cacciagli, Pierre
- Mignon-Ravix, Cecile
- Lacoste, Caroline
- Lefranc, Jeremie
- Napuri, Sylvia
- Damaj, Lena
- Villega, Frederic
- Pedespan, Jean-Michel
- Moutton, Sebastien
- Mignot, Cyril
- Doummar, Diane
- Lion-François, Laurence
- Gataullina, Svetlana
- Dulac, Olivier
- Martin, Melanie
- Gueden, Sophie
- Lesca, Gaetan
- Julia, Sophie
- Cances, Claude
- Journel, Hubert
- Altuzarra, Cecilia
- Ben Zeev, Bruria
- Afenjar, Alexandra
- Barth, Magalie
- Villard, Laurent
- Milh, Mathieu
Producer: 20200427
In:
Epilepsia vol. 60
Availability: No items available.
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