换一批
换一批Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders
作者：
Schluth-Bolard, Caroline [1]
;
Diguet, Flavie [2]
;
Chatron, Nicolas [3]
;
Rollat-Farnier, Pierre-Antoine [4]
;
Bardel, Claire [5]
;
Afenjar, Alexandra [6]
;
Amblard, Florence [7]
;
Amiel, Jeanne [8]
;
Blesson, Sophie [9]
;
Callier, Patrick [10]
;
Capri, Yline [11]
;
Collignon, Patrick [12]
;
Cordier, Marie-Pierre [13]
;
Coubes, Christine [14]
;
Demeer, Benedicte [15]
;
Chaussenot, Annabelle [16]
;
Demurger, Florence [17]
;
Devillard, Francoise [18]
;
Doco-Fenzy, Martine [19]
;
Dupont, Celine [20]
;
Dupont, Jean-Michel [21]
;
Dupuis-Girod, Sophie [22]
;
Faivre, Laurence [23]
;
Gilbert-Dussardier, Brigitte [24]
;
Guerrot, Anne-Marie [25]
;
Houlier, Marine [26]
;
Isidor, Bertrand [27]
;
Jaillard, Sylvie [28]
;
Joly-Helas, Geraldine [29]
;
Kremer, Valerie [30]
;
Lacombe, Didier [31]
;
Le Caignec, Cedric [32]
;
Lebbar, Aziza ;
Lebrun, Marine ;
Lesca, Gaetan ;
Lespinasse, James ;
Levy, Jonathan ;
Malan, Valerie ;
Mathieu-Dramard, Michele ;
Masson, Julie ;
Masurel-Paulet, Alice ;
Mignot, Cyril ;
Missirian, Chantal ;
Morice-Picard, Fanny ;
Moutton, Sebastien ;
Nadeau, Gwenael ;
Pebrel-Richard, Celine ;
Odent, Sylvie ;
Paquis-Flucklinger, Veronique ;
Pasquier, Laurent ;
Philip, Nicole ;
Plutino, Morgane ;
Pons, Linda ;
Portnoi, Marie-France ;
Prieur, Fabienne ;
Puechberty, Jacques ;
Putoux, Audrey ;
Rio, Marlene ;
Rooryck-Thambo, Caroline ;
Rossi, Massimiliano ;
Sarret, Catherine ;
Satre, Veronique ;
Siffroi, Jean-Pierre ;
Till, Marianne ;
Touraine, Renaud ;
Toutain, Annick ;
Toutain, Jerome ;
Valence, Stephanie ;
Verloes, Alain ;
Whalen, Sandra ;
Edery, Patrick ;
Tabet, Anne-Claude ;
Sanlaville, Damien
作者单位：
CHU Amiens, Ctr Activite Genet Clin, CLAD Nord France, Amiens, France
[1]
CHU Pontchaillou, Lab Cytogenet & Biol Cellulaire, Rennes, France
[2]
Hop Robert Debre, Dept Genet, Paris, France
[3]
APHP HUPC, Lab Cytogenet Constitut, Site Cochin, Paris, France
[4]
CHU Clermont Ferrand, Serv Cytogenet Med, Hop Estaing, Clermont Ferrand, France
[5]
CH Gen, Lab Genet Chromosom, Chambery, France
[6]
Hop Armand Trousseau, AP HP, Ctr Reference Deficiences Intellectuelles Causes, Dept Genet & Embryol
[7]
CHU Rennes, Serv Genet Clin, Rennes, France
[8]
Hop Necker Enfants Malad, Serv Cytogenet, Paris, France
[9]
CHU Dijon, Lab Cytogenet, Dijon, France
[10]
CHU Nice, Serv Genet Med, Nice, France
[11]
CHU Dijon Bourgogne, Ctr Reference Anomalies Dev & Syndromes Malformat, FHU TRANSLAD, Dijon, France
[12]
CHU Rouen, Unite Genet Clin, Rouen, France
[13]
Sorbonne Univ, Hop Armand Trousseau, AP HP, Pathol Congenitales Cervelet LeucoDystrophies,GRC
[14]
CHU Reims, Serv Genet, SFR CAP SANTE, EA3801, Reims, France
[15]
CHU Rouen, Lab Cytogenet, Rouen, France
[16]
Hosp Civils Lyon, Serv Genet, Bron, France
[17]
Hop Arnaud de Villeneuve, Serv Genet, Montpellier, France
[18]
CHU Nantes, Serv Genet Med, Nantes, France
[19]
Univ Bordeaux, Serv Genet Med, CHU Bordeaux, MRGM INSERM U1211,Hop Pellegrin, Bordeaux, France
[20]
CHU Clermont Ferrand, Serv Genet Med, Hop Estaing, Clermont Ferrand, France
[21]
Hop Necker Enfants Malad, Serv Genet Med, Paris, France
[22]
Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, Paris, France
[23]
CHU Strasbourg, Lab Cytogenet, Strasbourg, France
[24]
Lyon 1 Univ, Lab Biometrie & Biol Evolut UMR5558, CNRS, Cellule Bioinformat Plateforme NGS,Hosp
[25]
AP HM, Dept Genet Med, Lab Genet Chromosom, Marseille, France
[26]
CHU Hop Nord, Serv Genet Clin Chromosom & Mol, St Etienne, France
[27]
CHI Toulon, Serv Genet Med, Toulon, France
[28]
CHRU Tours, Serv Genet, Tours, France
[29]
Univ Poitiers, Serv Genet, CHU Poitiers, EA3808, Poitiers, France
[30]
AP HM, Unite Genet Clin, Dept Genet Med, Marseille, France
[31]
CHU Grenoble, Lab Genet Chromosom, Hop Couple Enfant, Grenoble, France
[32]
发布时间
2019-12-12
- 浏览1
Journal of Medical Genetics
Journal of Medical Genetics
526-535页
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