Výsledky vyhledávání - "Tabet, AnneClaude"

Periodical

Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autismHow to Cite this Article: Devillard F, Guinchat V, MorenoDeLuca D, Tabet AC, Gruchy N, Guillem P, Nguyen Morel MA, Leporrier N, Leboyer M, Jouk PS, Lespinasse J, Betancur C. 2010. Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism. Am J Med Genet Part A 152A:2346–2354.

Autor: Devillard, Françoise, Guinchat, Vincent, MorenoDeLuca, Daniel, Tabet, AnneClaude, Gruchy, Nicolas, Guillem, Pascale, Nguyen Morel, MarieAnge, Leporrier, Nathalie, Leboyer, Marion, Jouk, PierreSimon, Lespinasse, James, Betancur, Catalina

Publikováno v: American Journal of Medical Genetics. Part A; September 2010, Vol. 152 Issue: 9 p2346-2354, 9p

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Periodical

Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRNin a patient with arthrogryposisHow to Cite this Article: Tabet AC, Aboura A, Gérard M, Pilorge M, Dupont C, Gadisseux JF, Hervy N, Pipiras E, Delahaye A, Kanafani S, Verloes A, Benzacken B, Betancur C. 2010. Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRNin a patient with arthrogryposis. Am J Med Genet Part C Semin Med Genet 152A:1781–1788.

Autor: Tabet, AnneClaude, Aboura, Azzedine, Gérard, Marion, Pilorge, Marion, Dupont, Céline, Gadisseux, JeanFrançois, Hervy, Nadège, Pipiras, Eva, Delahaye, Andrée, Kanafani, Samia, Verloes, Alain, Benzacken, Brigitte, Betancur, Catalina

Publikováno v: American Journal of Medical Genetics. Part A; July 2010, Vol. 152 Issue: 7 p1781-1788, 8p

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Periodical

Abnormal muscle development of the diaphragm in a fetus with 2p14-p16 duplication

Autor: Guilherme, Romain, Guimiot, Fabien, Tabet, AnneClaude, KhungSavatovsky, Suonavy, Gauthier, Evelyne, Nouchy, Marc, Benzacken, Brigitte, Verloes, Alain, Oury, JeanFrançois, Delezoide, AnneLise, Aboura, Azzedine

Publikováno v: American Journal of Medical Genetics. Part A; December 2009, Vol. 149 Issue: 12 p2892-2897, 6p

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Periodical

First cryptic balanced reciprocal translocation mosaicism and familial transmission

Autor: Dupont, Celine, Delahaye, Andree, Burglen, Lydie, Tabet, AnneClaude, Aboura, Azzedine, Kanafani, Samia, Baverel, Françoise, de Villemeur, Thierry Billette, Benzacken, Brigitte, Pipiras, Eva

Publikováno v: American Journal of Medical Genetics. Part A; November 2008, Vol. 146 Issue: 22 p2971-2974, 4p

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Periodical

Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome

Autor: Bélien, Valérie, GérardBlanluet, Marion, Serero, Stéphane, Le Dû, Nathalie, Baumann, Clarisse, Jacquemont, MarieLine, Dupont, Céline, Krabchi, Kada, Drunat, Séverine, Elbez, Annie, Janaud, JeanClaude, Benzacken, Brigitte, Verloes, Alain, Tabet, AnneClaude, Aboura, Azzedine

Publikováno v: American Journal of Medical Genetics. Part A; July 2008, Vol. 146 Issue: 14 p1871-1874, 4p

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