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Mignot, Fulbert; Puel, Jean-Pierre; Suquet, Pierre-M.

Flambage des plaques élastiques multiperforées

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Cellule MathDoc/CEDRAM, 1981

Published in: Annales de la faculté des sciences de Toulouse Mathématiques
Mignot, Stephanie; Berthome, Anne-Charlotte; Andre, Marion; Breque, Cyril; Richer, Jean-Pierre; Ghazali, Daniel; Oriot, Denis

Development and validation of a performance assessment checklist for insertion of an intra-uterine device (IUD)

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VM Media Group sp. z o.o, 2023

Published in: Ginekologia Polska
Eriksson, Krister S; Zhang, Shengwen; Lin, Ling; Larivière, Roxanne C; Julien, Jean-Pierre; Mignot, Emmanuel

The type III neurofilament peripherin is expressed in the tuberomammillary neurons of the mouse

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Springer Science and Business Media LLC, 2008

Published in: BMC Neuroscience
Mignot, Jean-Pierre; Affa'a, Félix Marie; Da Silva Neto, Inacio Domingos; Vigues, Bernard

Cellularisation: les opalines illustrent-elles une tentative de constitution d'un être pluricellulaire ?

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Elsevier BV, 1998

Published in: L’Année Biologique
Tardy, Yanik; Hayoz, Daniel; Mignot, Jean-Pierre; Richard, Philippe; Brunner, Hans R.; Meister, Jean-Jacques

Dynamic non-invasive measurements of arterial diameter and wall thickness

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Ovid Technologies (Wolters Kluwer Health), 1992

Published in: Journal of Hypertension
Bratosin, Daniela; Tissier, Jean-Pierre; Lapillonne, Hélène; Hermine, Olivier; de Villemeur, Thierry Billette; Cotoraci, Coralia; Montreuil, Jean; Mignot, Cyril

A cytometric study of the red blood cells in Gaucher disease reveals their abnormal shape that may be involved in increased erythrophagocytosis

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Wiley, 2011

Published in: Cytometry Part B: Clinical Cytometry
André, Julia; Zhukouskaya, Volha V.; Lambert, Anne-Sophie; Salles, Jean-Pierre; Mignot, Brigitte; Bardet, Claire; Chaussain, Catherine; Rothenbuhler, Anya; Linglart, Agnès

Growth hormone treatment improves final height in children with X-linked hypophosphatemia

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Springer Science and Business Media LLC, 2022

Published in: Orphanet Journal of Rare Diseases
Ray-Coquard, I.; Guastalla, Jean-Paul; Treilleux, Isabelle; Weber, Béatrice; Guardiola, Emmanuel; Lotz, Jean-Pierre; Méeus, Pierre; Mignot, Laurent; Raudrant, Daniel; Tournigand, Christophe; Duvillard, Pierre; Pujade-Lorraine, Eric

Sex cord-stromal tumours, rare events in oncology necessitating multidisciplinary approach and referral pathways

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Elsevier BV, 2007

Published in: European Journal of Cancer Supplements
Jobling, Rebekah K.; Assoum, Mirna; Gakh, Oleksandr; Blaser, Susan; Raiman, Julian A.; Mignot, Cyril; Roze, Emmanuel; Dürr, Alexandra; Brice, Alexis; Lévy, Nicolas; Prasad, Chitra; Paton, Tara; Paterson, Andrew D.; Roslin, Nicole M.; Marshall, Christian R.; Desvignes, Jean-Pierre; Roëckel-Trevisiol, Nathalie; Scherer, Stephen W.; Rouleau, Guy A.; Mégarbané, André; Isaya, Grazia; Delague, Valérie; Yoon, Grace

PMPCAmutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

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Oxford University Press (OUP), 2015

Published in: Brain
Nava, Caroline; Keren, Boris; Mignot, Cyril; Rastetter, Agnès; Chantot-Bastaraud, Sandra; Faudet, Anne; Fonteneau, Eric; Amiet, Claire; Laurent, Claudine; Jacquette, Aurélia; Whalen, Sandra; Afenjar, Alexandra; Périsse, Didier; Doummar, Diane; Dorison, Nathalie; Leboyer, Marion; Siffroi, Jean-Pierre; Cohen, David; Brice, Alexis; Héron, Delphine; Depienne, Christel

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

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Springer Science and Business Media LLC, 2014

Published in: European Journal of Human Genetics
Vibert, Roseline; Mignot, Cyril; Keren, Boris; Chantot‐Bastaraud, Sandra; Portnoï, Marie‐France; Nouguès, Marie‐Christine; Moutard, Marie‐Laure; Faudet, Anne; Whalen, Sandra; Haye, Damien; Garel, Catherine; Chatron, Nicolas; Rossi, Massimiliano; Vincent‐Delorme, Catherine; Boute, Odile; Delobel, Bruno; Andrieux, Joris; Devillard, Françoise; Coutton, Charles; Puechberty, Jacques; Pebrel‐Richard, Céline; Colson, Cindy; Gerard, Marion; Missirian, Chantal; [...]

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum

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Wiley, 2022

Published in: Clinical Genetics
McElreavey, Ken; Jorgensen, Anne; Eozenou, Caroline; Merel, Tiphanie; Bignon-Topalovic, Joelle; Tan, Daisylyn Senna; Houzelstein, Denis; Buonocore, Federica; Warr, Nick; Kay, Raissa G.G.; Peycelon, Matthieu; Siffroi, Jean-Pierre; Mazen, Inas; Achermann, John C.; Shcherbak, Yuliya; Leger, Juliane; Sallai, Agnes; Carel, Jean-Claude; Martinerie, Laetitia; Le Ru, Romain; Conway, Gerard S.; Mignot, Brigitte; Van Maldergem, Lionel; Bertalan, Rita; [...]

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

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Elsevier BV, 2020

Published in: Genetics in Medicine
Wirth, Thomas; Garone, Giacomo; Kurian, Manju A.; Piton, Amélie; Millan, Francisca; Telegrafi, Aida; Drouot, Nathalie; Rudolf, Gabrielle; Chelly, Jamel; Marks, Warren; Burglen, Lydie; Demailly, Diane; Coubes, Phillipe; Castro‐Jimenez, Mayte; Joriot, Sylvie; Ghoumid, Jamal; Belin, Jérémie; Faucheux, Jean‐Marc; Blumkin, Lubov; Hull, Mariam; Parnes, Mered; Ravelli, Claudia; Poulen, Gaëtan; Calmels, Nadège; [...]

Highlighting the Dystonic Phenotype Related to GNAO1

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Wiley, 2022

Published in: Movement Disorders
Hayflick, Susan J.; Kruer, Michael C.; Gregory, Allison; Haack, Tobias B.; Kurian, Manju A.; Houlden, Henry H.; Anderson, James; Boddaert, Nathalie; Sanford, Lynn; Harik, Sami I.; Dandu, Vasuki H.; Nardocci, Nardo; Zorzi, Giovanna; Dunaway, Todd; Tarnopolsky, Mark; Skinner, Steven; Holden, Kenton R.; Frucht, Steven; Hanspal, Era; Schrander-Stumpel, Connie; Mignot, Cyril; Héron, Delphine; Saunders, Dawn E.; Kaminska, Margaret; [...]

Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

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Oxford University Press (OUP), 2013

Published in: Brain
Rice, Gillian I; Kasher, Paul R; Forte, Gabriella M A; Mannion, Niamh M; Greenwood, Sam M; Szynkiewicz, Marcin; Dickerson, Jonathan E; Bhaskar, Sanjeev S; Zampini, Massimiliano; Briggs, Tracy A; Jenkinson, Emma M; Bacino, Carlos A; Battini, Roberta; Bertini, Enrico; Brogan, Paul A; Brueton, Louise A; Carpanelli, Marialuisa; De Laet, Corinne; de Lonlay, Pascale; del Toro, Mireia; Desguerre, Isabelle; Fazzi, Elisa; Garcia-Cazorla, Àngels; Heiberg, Arvid; [...]

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

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Springer Science and Business Media LLC, 2012

Published in: Nature Genetics
Balazard, F.; Le Fur, S.; Valtat, S.; Valleron, A. J.; Bougnères, P.; Thevenieau, Dominique; Chatel, Corinne Fourmy; Desailloud, Rachel; Bony-Trifunovic, Hélène; Ducluzeau, Pierre-Henri; Coutant, Régis; Caudrelier, Sophie; Pambou, Armelle; Dubosclard, Emmanuelle; Joubert, Florence; Jan, Philippe; Marcoux, Estelle; Bertrand, Anne-Marie; Mignot, Brigitte; Penformis, Alfred; Stuckens, Chantal; Piquemal, Régis; Barat, Pascal; Rigalleau, Vincent; [...]

Association of environmental markers with childhood type 1 diabetes mellitus revealed by a long questionnaire on early life exposures and lifestyle in a case–control study

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Springer Science and Business Media LLC, 2016

Published in: BMC Public Health
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; [...]

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

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BMJ, 2019

Published in: Journal of Medical Genetics
von Schuckmann, Karina; Le Traon, Pierre-Yves; Smith, Neville; Pascual, Ananda; Djavidnia, Samuel; Gattuso, Jean-Pierre; Grégoire, Marilaure; Nolan, Glenn; Aaboe, Signe; Aguiar, Eva; Álvarez Fanjul, Enrique; Alvera-Azcárate, Aida; Aouf, Lotfi; Barciela, Rosa; Behrens, Arno; Belmonte Rivas, Maria; Ben Ismail, Sana; Bentamy, Abderrahim; Borgini, Mireno; Brando, Vittorio E.; Bensoussan, Nathaniel; Blauw, Anouk; Bryère, Philippe; Buongiorno Nardelli, Bruno; [...]

Copernicus Marine Service Ocean State Report, Issue 3

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Informa UK Limited, 2019

Published in: Journal of Operational Oceanography
von Schuckmann, Karina; Le Traon, Pierre-Yves; Smith, Neville; Pascual, Ananda; Djavidnia, Samuel; Gattuso, Jean-Pierre; Grégoire, Marilaure; Nolan, Glenn; Aaboe, Signe; Fanjul, Enrique Álvarez; Aouf, Lotfi; Aznar, Roland; Badewien, T. H.; Behrens, Arno; Berta, Maristella; Bertino, Laurent; Blackford, Jeremy; Bolzon, Giorgio; Borile, Federica; Bretagnon, Marine; Brewin, Robert J.W.; Canu, Donata; Cessi, Paola; Ciavatta, Stefano; [...]

Copernicus Marine Service Ocean State Report, Issue 4

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Informa UK Limited, 2020

Published in: Journal of Operational Oceanography

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