부산대학교 도서관

Vissers, L.E.L.M.; Kalvakuri, S.; de Boer, E.; Geuer, S.; Oud, M.M.; van Outersterp, I.; Kwint, M.P.; Witmond, M.; Kersten, S.; Polla, D.L.; Weijers, D.; Begtrup, A.; McWalter, K.; Ruiz, A.; Gabau, E.; Morton, J.E.; Griffith, C.; Weiss, K.; Gamble, C.; Bartley, J.; Vernon, H.J.; Brunet, K.; Ruivenkamp, C.; Kant, S.G.; Kruszka, P.; Larson, A.; Afenjar, A.; Billette de Villemeur, T.; Nugent, K.; Raymond, F.L.; Venselaar, H.; Demurger, F.; Soler-Alfonso, C.; Li, D.; Bhoj, E.; Hayes, I.; Hamilton, N.P.; Ahmad, A.; Fisher, R.; van den Born, M.; Willems, M.; Sorlin, A.; Delanne, J.; Moutton, S.; Christophe, P.; Mau-Them, F.T.; Vitobello, A.; Goel, H.; Massingham, L.; Phornphutkul, C.; Schwab, J.; Keren, B.; Charles, P.; Vreeburg, M.; De Simone, L.; Hoganson, G.; Iascone, M.; Milani, D.; Evenepoel, L.; Revencu, N.; Ward, D.I.; Burns, K.; Krantz, I.; Raible, S.E.; Murrell, J.R.; Wood, K.; Cho, M.T.; van Bokhoven, H.; Muenke, M.; Kleefstra, T.; Bodmer, R.; de Brouwer, A.P.M.

AMERICAN JOURNAL OF HUMAN GENETICS
r-I3PT. Repositorio Institucional Producción Científica del Institut d'Investigació i Innovació Parc Taulí
instname
American Journal of Human Genetics, 107, 1, pp. 164-172
American journal of human genetics, Vol. 107, no.1, p. 164-172 (2020)
The American Journal of Human Genetics

T. Stead; A. P. Blaber; D. N. Divsalar; D. Xu; K. Tavakolian; J. Evans; R. Billette de Villemeur; M-P Bareille; A. Saloň; B. Steuber; N. Goswami

Frontiers in Physiology, Vol 16 (2025)

Rousseau, M.-C. ; Humbertclaude, E. ; Lauksecker, C. ; Dagois, J.-F. ; Billette de Villemeur, T.

In Ethique et Santé September 2019 16(3):100-110

Héron, B.; Billette de Villemeur, T.; Dufaure Garé, I.; Brassier, A.; Chabrol, B.; Pichard, S.; Feillet, F.; Guemann, A.S.; Barth, M.; Tardieu, M.; Nadjar, Y.; Belmatoug, N.; Sacaze, E.; Roubertie, A.; Cador, B.; Beze-Beyrie, P.; Klising, E.; Guéguen, S.; Amselem, S.

Revue d'Épidémiologie et de Santé Publique. 69:S104-S105

Rousseau, M.-C.; Hully, M.; Milh, M.; Juzeau, D.; Pollez, B.; Peudenier, S.; Bahi Buisson, N.; Gautheron, V.; Chabrol, B.; Billette de Villemeur, T.

Arch Pediatr

Rousseau, M.-C.; Baumstarck, K.; Hamouda, I.; Valkov, M.; Felce, A.; Khaldi-Cherif, S.; Brisse, C.; Loundou, A.; Auquier, P.; Billette de Villemeur, T.

Revue Neurologique. 177:683-689

Affdal, A.-O. ; Moutard, M.-L. ; Billette de Villemeur, T. ; Duchange, N. ; Hervé, C. ; Moutel, G.

In Archives de pédiatrie April 2015 22(4):337-342

Rousseau, Marie-Christine; Baumstarck, Karine; Khaldi-Cherif, Sherezad; Billette de Villemeur, Thierry; Khaldi-Cherif, N.; Felce, Agnés; Valkov, Maria; Brisse, Catherine; Loundou, Anderson; Auquier, Pascal; Billette de villemeur, T.

Revue Neurologique. 176:370-379

Hamouda, I.; Baumstarck, K.; Aim, M.‐A.; Beltran Anzola, A.; Loundou, A.; Billette de Villemeur, T.; Boyer, L.; Auquier, P.; Rousseau, M.‐C.

Journal of Intellectual Disability Research (J INTELLECT DISABIL RES), Aug2024; 68(8): 985-996. (12p)

Héron D; Clinical Genetics Unit, Referral Centers for Rare Diseases 'Intellectual Disabilities of Rare Causes' and 'Developmental Anomalies and Malformative Syndromes', APHP Sorbonne University, Pitié Salpêtrière Hospital, APHP, Paris 75013, France.; Gerasimenko A; Clinical Genetics Unit, Referral Centers for Rare Diseases 'Intellectual Disabilities of Rare Causes' and 'Developmental Anomalies and Malformative Syndromes', APHP Sorbonne University, Pitié Salpêtrière Hospital, APHP, Paris 75013, France.; Frugère L; Clinical Genetics Unit, Referral Centers for Rare Diseases 'Intellectual Disabilities of Rare Causes' and 'Developmental Anomalies and Malformative Syndromes', APHP Sorbonne University, Pitié Salpêtrière Hospital, APHP, Paris 75013, France.; Ducourneau J; Clinical Genetics Unit, Referral Centers for Rare Diseases 'Intellectual Disabilities of Rare Causes' and 'Developmental Anomalies and Malformative Syndromes', APHP Sorbonne University, Pitié Salpêtrière Hospital, APHP, Paris 75013, France.; Rossi C; Clinical Genetics Unit, Referral Centers for Rare Diseases 'Intellectual Disabilities of Rare Causes' and 'Developmental Anomalies and Malformative Syndromes', APHP Sorbonne University, Pitié Salpêtrière Hospital, APHP, Paris 75013, France.; Nava C; Medical Genetics Department, Developmental and Reproductive Genomics Unit, APHP Sorbonne University, Pitié-Salpêtrière Hospital, APHP, Paris 75013, France.; de Sainte-Agathe JM; Medical Genetics Department, Developmental and Reproductive Genomics Unit, APHP Sorbonne University, Pitié-Salpêtrière Hospital, APHP, Paris 75013, France.; Mignot C; Clinical Genetics Unit, Referral Centers for Rare Diseases 'Intellectual Disabilities of Rare Causes' and 'Developmental Anomalies and Malformative Syndromes', APHP Sorbonne University, Pitié Salpêtrière Hospital, APHP, Paris 75013, France.; Lehalle D; Clinical Genetics Unit, Referral Centers for Rare Diseases 'Intellectual Disabilities of Rare Causes' and 'Developmental Anomalies and Malformative Syndromes', APHP Sorbonne University, Pitié Salpêtrière Hospital, APHP, Paris 75013, France.; Grotto S; Clinical Genetics Unit, Referral Centers for Rare Diseases 'Intellectual Disabilities of Rare Causes' and 'Developmental Anomalies and Malformative Syndromes', APHP Sorbonne University, Pitié Salpêtrière Hospital, APHP, Paris 75013, France.; El-Khattabi L; Medical Genetics Department, Developmental and Reproductive Genomics Unit, APHP Sorbonne University, Pitié-Salpêtrière Hospital, APHP, Paris 75013, France.; Paris Brain Institute, Sorbonne Université, Inserm U1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, Paris 75013, France.; Nguyen T; Department of Pediatric Radiology, Trousseau Hospital, AP-HP.Sorbonne University, Paris 75012, France.; Garel C; Department of Pediatric Radiology, Trousseau Hospital, AP-HP.Sorbonne University, Paris 75012, France.; Blondiaux E; Department of Pediatric Radiology, Trousseau Hospital, AP-HP.Sorbonne University, Paris 75012, France.; Milh M; Pediatric Neurology Department, Timone Enfant, APHM, Marseille 13005, France.; Desnous B; Pediatric Neurology Department, Timone Enfant, APHM, Marseille 13005, France.; Girard N; Department of Radiology, University Hospital Timone, Aix Marseille University, Marseille 13005, France.; des Portes V; Department of Child Neurology, Referral Centers for Rare Diseases 'Intellectual Disabilities of Rare Causes', Lyon Hospital, and University Claude Bernard Lyon 1, Lyon 69500, France.; Guibaud L; Department of Fetal and Pediatric Imaging, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron 69500, France.; Sabatier I; Department of Fetal and Pediatric Imaging, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron 69500, France.; Patat O; Department of Medical Genetics, Purpan Hospital, CHU de Toulouse, Toulouse 31200, France.; Julia S; Department of Medical Genetics, Purpan Hospital, CHU de Toulouse, Toulouse 31200, France.; Benachi A; Obstetrics and Gynaecology Department, Antoine Béclère Hospital, APHP, Paris Saclay University, Clamart 92140, France.; Vivanti A; Obstetrics and Gynaecology Department, Antoine Béclère Hospital, APHP, Paris Saclay University, Clamart 92140, France.; Picone O; Neonatal and Pediatric Units, Louis-Mourier Hospital APHP, Colombes 92025, France.; Guet A; Neonatal and Pediatric Units, Louis-Mourier Hospital APHP, Colombes 92025, France.; Nizon M; Medical Genetics Unit, Nantes Hospital and University, Nantes 44000, France.; Vincent M; Medical Genetics Unit, Nantes Hospital and University, Nantes 44000, France.; Conrad S; Medical Genetics Unit, Nantes Hospital and University, Nantes 44000, France.; Le Vaillant C; Department of Obstetrics and Gynecology, CHU Nantes, Nantes 44000, France.; Billette de Villemeur T; Pediatric Neurology Department, Referral Centers for Rare Diseases 'Intellectual Disabilities of Rare Causes', APHP Sorbonne University, Armand Trousseau Hospital, APHP, Paris 75012, France.; Moutton S; CPDPN, Pôle mère enfant, Maison de Santé Protestante Bordeaux Bagatelle, Talence 33522, France.; Tsatsaris V; Department of Obstetric, Cochin Hospital, APHP, Université Paris Cité, Paris 75014, France.; Guilbaud L; Fetal Medicine Department, Armand Trousseau University Hospital, DMU Origyne, Sorbonne University, Paris 75012, France.; Jouannic JM; Fetal Medicine Department, Armand Trousseau University Hospital, DMU Origyne, Sorbonne University, Paris 75012, France.; Valence S; Pediatric Neurology Department, Referral Centers for Rare Diseases 'Intellectual Disabilities of Rare Causes', APHP Sorbonne University, Armand Trousseau Hospital, APHP, Paris 75012, France.; Keren B; Medical Genetics Department, Developmental and Reproductive Genomics Unit, APHP Sorbonne University, Pitié-Salpêtrière Hospital, APHP, Paris 75013, France.; Heide S; Clinical Genetics Unit, Referral Centers for Rare Diseases 'Intellectual Disabilities of Rare Causes' and 'Developmental Anomalies and Malformative Syndromes', APHP Sorbonne University, Pitié Salpêtrière Hospital, APHP, Paris 75013, France.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Gras, D. ; Roze, E. ; Caillet, S. ; Méneret, A. ; Doummar, D. ; Billette de Villemeur, T. ; Vidailhet, M. ; Mochel, F.

In Revue Neurologique February 2014 170(2):91-99

Ferrafiat, Vladimir; Raffin, Marie; Freri, Elena; Granata, Tiziana; Nardocci, Nardo; Zibordi, Federica; Bodeau, Nicolas; Benarous, Xavier; Olliac, Bertrand; Riquin, Elise; Viaux, Sylvie; Haroche, Julien; Amoura, Zahir; Gérardin, Priscille; Consoli, Angèle; Zahoui, Mohamed; Zhou, Bo; Bilan, Frederic; Zhang, Xianglong; Gilbert-Dussardier, Brigitte; Viaux-Savelon, Sylvie; Pattni, Reenal; Ho, Steve; Urban, Alexander; Delion, Pierre; Labreuche, Julien; Deplanque, Dominique; Duhamel, Alain; Lallié, Céline; Ravary, Maud; Goëb, Jean-Louis; Medjkane, François; Gauthier, Soizic; Anzalone, Salvatore; Zaoui, Mohamed; Chetouani, Mohamed; Villa, François; Berthoz, Alain; Angeard, N.; Huerta, E.; Gargiulo, M.; Servais, L.; Eymard, B.; Chérot, E.; Keren, B.; Dubourg, C.; Carré, W.; Fradin, M.; Lavillaureix, A.; Afenjar, A.; Burglen, L.; Whalen, S.; Charles, P.; Marey, I.; Heide, S.; Jacquette, A.; Heron, D.; Doummar, D.; Rodriguez, D.; Billette de Villemeur, T.; Moutard, M.-L.; Guët, A.; Périsse, D.; Demurger, F.; Quelin, C.; Depienne, C.; Odent, S.; Nava, C.; David, V.; Pasquier, L.; Mignot, C.; Giannitelli, Marianna; Levinson, Douglas; Cohen, David; Xavier, Jean; Laurent-Levinson, Claudine

Schizophrenia Research. 216:470-478

Lion-Francois, L.; Mignot, C.; Vicart, S.; Manel, V.; Sternberg, D.; Landrieu, P.; Lesca, G.; Broussolle, E.; Billette de Villemeur, T.; Napuri, S.; Des Portes, V.; Fontaine, B.

Neurology. 75:641-645

Durizot M; APHP Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau, Paris, France.; Burglen L; Département de Génétique, APHP Sorbonne Université, Hôpital Trousseau, Paris, France; Department of Clinical Genetics, Centre de Référence Malformations et Maladies Congénitales du Cervelet, Hôpital Armand-Trousseau, Paris, France.; Garel C; APHP Sorbonne Université, Service de Radiologie, Hôpital Trousseau, Paris, France.; Blondiaux E; APHP Sorbonne Université, Service de Radiologie, Hôpital Trousseau, Paris, France.; Riquet A; Département de Neuropédiatrie, GHICL Université Catholique de Lille, Hôpital Saint Vincent de Paul, Lille, France.; Floret V; CHU de Lille, Service de Neuropédiatrie, Hôpital Salengro, Lille, France.; Desportes V; Centre de Référence des Maladies Rares et Déficience Intellectuelle, HCL Université de Lyon, Service de Neuropédiatrie HFME, Lyon, France.; Häänpaa M; Clinical Genetics, Turku University Hospital, Turku, Southwest Finland, Finland.; Valenzuela MI; Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Catalonia, Spain.; Pinto AM; Clinical Genetics, Policlinico Le Scotte - University Hospital of Siena, Siena, Tuscany, Italy.; Renieri A; Medical Genetics, University of Siena, Siena, Italy; Department of Medical Biotechnologies, Med Biotech Hub and Computer Center, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Vanneste M; Clinical Genetics, University Hospitals Leuven, Leuven, Flemish Brabant, Belgium.; Devriendt K; Clinical Genetics, University Hospitals Leuven, Leuven, Flemish Brabant, Belgium.; de Waele L; Neuropediatry, University Hospitals Leuven, Leuven, Flemish Brabant, Belgium.; Guilbaud L; Service de Médecine fœtale, APHP Sorbonne Université, Hôpital Trousseau, Paris, France.; Jouannic JM; Service de Médecine fœtale, APHP Sorbonne Université, Hôpital Trousseau, Paris, France.; Harion M; APHP Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau, Paris, France.; Billette de Villemeur T; APHP Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau, Paris, France.; Rodriguez D; APHP Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau, Paris, France.; Lacaze E; APHP Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau, Paris, France.; Milh M; Service de Neurologie Pédiatrique, APHM Aix-Marseille Université, Hôpital de la Timone-Enfants, Marseille, France.; Cloarec R; Centre de Référence Déficiences Intellectuelles et Polyhandicap de causes Rares, APHM Aix-Marseille Université, Hôpital de la Timone-Enfants, Marseille, France.; Afenjar A; Département de Génétique, APHP Sorbonne Université, Hôpital Trousseau, Paris, France; Department of Clinical Genetics, Centre de Référence Malformations et Maladies Congénitales du Cervelet, Hôpital Armand-Trousseau, Paris, France.; Héron D; Département de Génétique, APHP Sorbonne Université, Hôpital Pitié Salpétrière, Paris, France; Department of Pediatric Neurology, Centre de référence Deficiences Intellectuelles de causes rares, Paris, France.; Mignot C; Département de Génétique, APHP Sorbonne Université, Hôpital Trousseau, Paris, France; Department of Pediatric Neurology, Centre de référence Deficiences Intellectuelles de causes rares, Paris, France.; Valence S; APHP Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau, Paris, France; Department of Pediatric Neurology, Centre de référence Deficiences Intellectuelles de causes rares, Paris, France. Electronic address: stephanie.valence@aphp.fr.

Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

Isapof, A. ; Kieffer, V. ; Sacco, S. ; Billette de Villemeur, T. ; Gelot, A. ; Garel, C. ; Adamsbaum, C. ; Lewin, F. ; Jouannic, J.-M. ; Raffo, E. ; Moutard, M.-L.

In Archives de pédiatrie March 2010 17(3):226-232

Rousseau, M.-C.; Baumstarck, K.; Auquier, P.; Billette de Villemeur, T.

Revue Neurologique. 176:92-99

Laurent-Vannier, A. ; Nathanson, M. ; Quiriau, F. ; Briand-Huchet, E. ; Cook, J. ; Billette de Villemeur, T. ; Chazal, J. ; Christophe, C. ; Defoort-Dhellemmes, S. ; Fortin, G. ; Rambaud, C. ; Raul, J.-S. ; Rey-Salmon, C. ; Sottet, F. ; Vieux, E. ; Vinchon, M. ; Willinger, R.

In Annals of Physical and Rehabilitation Medicine December 2011 54(9-10):533-599

Laurent-Vannier, A. ; Nathanson, M. ; Quiriau, F. ; Briand-Huchet, E. ; Cook, J. ; Billette de Villemeur, T. ; Chazal, J. ; Christophe, C. ; Defoort-Dhellemmes, S. ; Fortin, G. ; Rambaud, C. ; Raul, J.S. ; Rey-Salmon, C. ; Sottet, F. ; Vieux, E. ; Vinchon, M. ; Willinger, R.

In Annals of Physical and Rehabilitation Medicine December 2011 54(9-10):600-625

Momtchilova, M. ; Pelosse, B. ; Saliba, M. ; Abdiche, G. ; Doummar, D. ; Laroche, L. ; Billette de Villemeur, T.

In Journal Francais d'Ophtalmologie April 2008 31(4):409-415

Doummar, D. ; Moussa, F. ; Nougues, M.-C. ; Ravelli, C. ; Louha, M. ; Whalen, S. ; Burglen, L. ; Rodriguez, D. ; Billette de Villemeur, T.

In Revue Neurologique November 2018 174(9):581-588