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Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders
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Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

Schluth-Bolard, Caroline ; Diguet, Flavie ; Chatron, Nicolas ; Rollat-Farnier, Pierre-Antoine ; Bardel, Claire ; Afenjar, Alexandra ; Amblard, Florence ; Amiel, Jeanne ; Blesson, Sophie ; Callier, Patrick ; Capri, Yline ; Collignon, Patrick ; Cordier, Marie-Pierre ; Coubes, Christine ; Demeer, Benedicte ; Chaussenot, Annabelle ; Demurger, Florence ; Devillard, Françoise ; Doco-Fenzy, Martine ; Dupont, Céline ; Dupont, Jean-Michel ; Dupuis-Girod, Sophie ; Faivre, Laurence ; Gilbert-Dussardier, Brigitte ; Guerrot, Anne-Marie ; Houlier, Marine ; Isidor, Bertrand ; Jaillard, Sylvie ; Joly-Hélas, Géraldine ; Kremer, Valérie ; Lacombe, Didier ; Le Caignec, Cédric ; Lebbar, Aziza ; Lebrun, Marine ; Lesca, Gaetan ; Lespinasse, James ; Levy, Jonathan ; Malan, Valérie ; Mathieu-Dramard, Michele ; Masson, Julie ; Masurel-Paulet, Alice ; Mignot, Cyril ; Missirian, Chantal ; Morice-Picard, Fanny ; Moutton, Sébastien ; Nadeau, Gwenaël ; Pebrel-Richard, Céline ; Odent, Sylvie ; Paquis-Flucklinger, Véronique ; Pasquier, Laurent ; Philip, Nicole ; Plutino, Morgane ; Pons, Linda ; Portnoï, Marie-France ; Prieur, Fabienne ; Puechberty, Jacques ; Putoux, Audrey ; Rio, Marlène ; Rooryck-Thambo, Caroline ; Rossi, Massimiliano ; Sarret, Catherine ; Satre, Véronique ; Siffroi, Jean-Pierre ; Till, Marianne ; Touraine, Renaud ; Toutain, Annick ; Toutain, Jérome ; Valence, Stéphanie ; Verloes, Alain ; Whalen, Sandra ; Edery, Patrick ; Tabet, Anne-Claude ; Sanlaville, Damien

Journal of medical genetics, 2019-08, Vol.56 (8), p.526-535 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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2
Severe Antenatal Hypertrophic Cardiomyopathy Secondary to ACAD9-Related Mitochondrial Complex I Deficiency
Severe Antenatal Hypertrophic Cardiomyopathy Secondary to ACAD9-Related Mitochondrial Complex I Deficiency
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Severe Antenatal Hypertrophic Cardiomyopathy Secondary to ACAD9-Related Mitochondrial Complex I Deficiency

Dubucs, Charlotte ; Aziza, Jacqueline ; Sartor, Agnès ; Heitz, François ; Sevely, Annick ; Sternberg, Damien ; Jardel, Claude ; Cavallé-Garrido, Tiscar ; Albrecht, Steffen ; Bernard, Chantal ; De Bie, Isabelle ; Chassaing, Nicolas

Molecular syndromology, 2023-04, Vol.14 (2), p.101-108 [Periódico revisado por pares]

Basel, Switzerland: S. Karger AG

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3
Emergence and spread of SARS-CoV-2 lineage B.1.620 with variant of concern-like mutations and deletions
Emergence and spread of SARS-CoV-2 lineage B.1.620 with variant of concern-like mutations and deletions
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Emergence and spread of SARS-CoV-2 lineage B.1.620 with variant of concern-like mutations and deletions

Dudas, Gytis ; Hong, Samuel L ; Potter, Barney I ; Calvignac-Spencer, Sébastien ; Niatou-Singa, Frédéric S ; Tombolomako, Thais B ; Fuh-Neba, Terence ; Vickos, Ulrich ; Ulrich, Markus ; Leendertz, Fabian H ; Khan, Kamran ; Huber, Carmen ; Watts, Alexander ; Olendraitė, Ingrida ; Snijder, Joost ; Wijnant, Kim N ; Bonvin, Alexandre M.J.J ; Martres, Pascale ; Behillil, Sylvie ; Ayouba, Ahidjo ; Maidadi, Martin Foudi ; Djomsi, Dowbiss Meta ; Godwe, Celestin ; Butel, Christelle ; Šimaitis, Aistis ; Gabrielaitė, Miglė ; Katėnaitė, Monika ; Norvilas, Rimvydas ; Raugaitė, Ligita ; Koyaweda, Giscard Wilfried ; Kandou, Jephté Kaleb ; Jonikas, Rimvydas ; Nasvytienė, Inga ; Žemeckienė, Živilė ; Gečys, Dovydas ; Tamušauskaitė, Kamilė ; Norkienė, Milda ; Vasiliūnaitė, Emilija ; Žiogienė, Danguolė ; Timinskas, Albertas ; Šukys, Marius ; Šarauskas, Mantas ; Alzbutas, Gediminas ; Aziza, Adrienne Amuri ; Lusamaki, Eddy Kinganda ; Cigolo, Jean Claude Makangara ; Mawete, Francisca Muyembe ; Lofiko, Emmanuel Lokilo ; Kingebeni, Placide Mbala ; Tamfum, Jean Jacques Muyembe ; Belizaire, Marie Roseline Darnycka ; Essomba, René Ghislain ; Assoumou, Marie Claire Okomo ; Mboringong, Akenji Blaise ; Dieng, Alle Baba ; Juozapaitė, Dovilė ; Hosch, Salome ; Obama, Justino ; Ayekaba, Mitoha Ondo’o ; Naumovas, Daniel ; Pautienius, Arnoldas ; Rafaï, Clotaire Donatien ; Vitkauskienė, Astra ; Ugenskienė, Rasa ; Gedvilaitė, Alma ; Čereškevičius, Darius ; Lesauskaitė, Vaiva ; Žemaitis, Lukas ; Griškevičius, Laimonas ; Baele, Guy

2021-10

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4
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders
Material Type:
Artigo 		Adicionar ao Meu Espaço

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

Schluth-Bolard, Caroline ; Diguet, Flavie ; Chatron, Nicolas ; Rollat-Farnier, Pierre-Antoine ; Bardel, Claire ; Afenjar, Alexandra ; Amblard, Florence ; Amiel, Jeanne ; Blesson, Sophie ; Callier, Patrick ; Capri, Yline ; Collignon, Patrick ; Cordier, Marie-Pierre ; Coubes, Christine ; Demeer, Benedicte ; Chaussenot, Annabelle ; Demurger, Florence ; Devillard, Françoise ; Doco-Fenzy, Martine ; Dupont, Céline ; Dupont, Jean-Michel ; Dupuis-Girod, Sophie ; Faivre, Laurence ; Gilbert-Dussardier, Brigitte ; Guerrot, Anne-Marie ; Houlier, Marine ; Isidor, Bertrand ; Jaillard, Sylvie ; Joly-Hélas, Géraldine ; Kremer, Valérie ; Lacombe, Didier ; Le Caignec, Cédric ; Lebbar, Aziza ; Lebrun, Marine ; Lesca, Gaetan ; Lespinasse, James ; Levy, Jonathan ; Malan, Valérie ; Mathieu-Dramard, Michele ; Masson, Julie ; Masurel-Paulet, Alice ; Mignot, Cyril ; Missirian, Chantal ; Morice-Picard, Fanny ; Moutton, Sébastien ; Nadeau, Gwenaël ; Pebrel-Richard, Céline ; Odent, Sylvie ; Paquis-Flucklinger, Véronique ; Pasquier, Laurent ; Philip, Nicole ; Plutino, Morgane ; Pons, Linda ; Portnoï, Marie-France ; Prieur, Fabienne ; Puechberty, Jacques ; Putoux, Audrey ; Rio, Marlène ; Rooryck-Thambo, Caroline ; Rossi, Massimiliano ; Sarret, Catherine ; Satre, Véronique ; Siffroi, Jean-Pierre ; Till, Marianne ; Touraine, Renaud ; Toutain, Annick ; Toutain, Jérome ; Valence, Stéphanie ; Verloes, Alain ; Whalen, Sandra ; Edery, Patrick ; Tabet, Anne-Claude ; Sanlaville, Damien

Journal of medical genetics, 2019-08, Vol.56 (8), p.526-535 [Periódico revisado por pares]

BMJ Publishing Group

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