Unravelling structural chromosomal rearrangements by whole genome sequencing: results of the ANI project, a French collaborative study including 55 patients with intellectual disability and/or congenital malformations

C. Schluth-Bolard; F. Diguet; P. A. Rollat-Farnier; J. Amiel; M. A. Belaud-Rotureau; B. Benzacken; P. Callier; N. Chatron; P. Collignon; Bénédicte Demeer; M. Doco-Fenzy; L. Faivre; B. Gilbert-Dussardier; A. M. Guerrot; S. Jaillard; B. Keren; V. Kremer; D. Lacombe; A. Lebbar; C. Le Caignec; J. Lespinasse; V. Malan; M. Mathieu-Dramard; C. Missirian; A. Moncla; S. Odent; C. Pebrel-Richard; V. Paquis; M. F. Portnoi; J. Puechberty; C. Rooryck-Thambo; V. Satre; A. C. Tabet; R. Touraine; A. Toutain; M. Vekemans; A. Verloes; P. Edery; D. Sanlaville

Article dans une revue

Unravelling structural chromosomal rearrangements by whole genome sequencing: results of the ANI project, a French collaborative study including 55 patients with intellectual disability and/or congenital malformations

C. Schluth-Bolard F. Diguet P. A. Rollat-Farnier J. Amiel M. A. Belaud-Rotureau B. Benzacken P. Callier N. Chatron P. Collignon Bénédicte Demeer ¹ M. Doco-Fenzy L. Faivre B. Gilbert-Dussardier A. M. Guerrot S. Jaillard B. Keren V. Kremer D. Lacombe A. Lebbar C. Le Caignec J. Lespinasse V. Malan M. Mathieu-Dramard C. Missirian A. Moncla S. Odent C. Pebrel-Richard V. Paquis M. F. Portnoi J. Puechberty C. Rooryck-Thambo V. Satre A. C. Tabet R. Touraine A. Toutain M. Vekemans A. Verloes P. Edery D. Sanlaville

1 CHIMERE - CHirurgie, IMagerie et REgénération tissulaire de l’extrémité céphalique - Caractérisation morphologique et fonctionnelle - UR UPJV 7516

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Sciences du Vivant [q-bio]

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Soumis le : lundi 7 mars 2022 - 16:10:58
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Unravelling structural chromosomal rearrangements by whole genome sequencing: results of the ANI project, a French collaborative study including 55 patients with intellectual disability and/or congenital malformations

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Unravelling structural chromosomal rearrangements by whole genome sequencing: results of the ANI project, a French collaborative study including 55 patients with intellectual disability and/or congenital malformations

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