Ségolène Ayme: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

51

État de la R&D dans les maladies rares, 10 ans après le règlement européen du médicament orphelin

Ségolène Aymé

Journal:

La Presse Médicale

Year:

2010

Language:

french

File:

PDF, 62 KB

french, 2010

52

Les données prises en compte et les critères de la commission de la transparence doivent-ils être adaptés pour les maladies rares ?

François Meyer, Gilles Bouvenot, Christel Nourissier, Annick Schwebig, Serge Braun, Ségolène Ayme, Catherine Lassale, Olivier Blin

Journal:

La Presse Médicale

Year:

2010

Language:

french

File:

PDF, 99 KB

french, 2010

53

Les outils et ressources précompétitifs pour accélérer la R&D en Europe

Ségolène Ayme

Journal:

La Presse Médicale

Year:

2012

Language:

french

File:

PDF, 78 KB

french, 2012

54

Introduction et messages de bienvenue

Annick Schwebig, Nicolas Levy, Ségolène Ayme

Journal:

La Presse Médicale

Year:

2012

Language:

french

File:

PDF, 52 KB

french, 2012

55

Conclusion des rencontres RARE 2011 et perspectives pour RARE 2013

Ségolène Ayme, Nicolas Levy, Annick Schwebig, Jacquie Berthe

Journal:

La Presse Médicale

Year:

2012

Language:

french

File:

PDF, 63 KB

french, 2012

56

Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy

Sabrina Sacconi, Eva Trevisson, Leonardo Salviati, Ségolène Aymé, Odile Rigal, Alberto Garcia Redondo, Michelangelo Mancuso, Gabriele Siciliano, Paola Tonin, Corrado Angelini, Karine Auré, Anne Lombès

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 203 KB

english, 2010

57

Empowerment of patients: lessons from the rare diseases community

Ségolène Aymé, Anna Kole, Stephen Groft

Journal:

Year:

2008

Language:

english

File:

PDF, 79 KB

english, 2008

58

Maladies rares: 67 centres de référence pour une révolution culturelle ?

Ségolène Aymé

Journal:

La Presse Médicale

Year:

2006

Language:

french

File:

PDF, 213 KB

french, 2006

59

Letter to Human Genetics Journals

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 41 KB

english, 2000

60

Dermatoglyphics in parents of children with trisomy 21 : Evaluation of their interest in genetic counselling

Ségolène Ayme, Mark-Genevieve Mattei, J. F. Mattei, Yvette Aurran, F. Giraud

Journal:

Clinical Genetics

Year:

1979

Language:

english

File:

PDF, 368 KB

english, 1979

61

Formal analysis of dysmorphism: Objective methods of syndrome definition

Marilyn Preus, Ségolène Aymé

Journal:

Clinical Genetics

Year:

1983

Language:

english

File:

PDF, 1.28 MB

english, 1983

62

Rare diseases and now rare data?

Mascalzoni, Deborah, Knoppers, Bartha Maria, Aymé, Ségolène, Macilotti, Matteo, Dawkins, Hugh, Woods, Simon, Hansson, Mats G.

Journal:

Nature Reviews Genetics

Year:

2013

Language:

english

File:

PDF, 237 KB

english, 2013

63

Bridging the gap between molecular genetics and metabolic medicine: access to genetic information

Ségolène Aymé

Journal:

European Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 55 KB

english, 2000

64

Dispelling myths about rare disease registry system development

Bellgard, Matthew, Beroud, Christophe, Parkinson, Kay, Harris, Tess, Ayme, Segolene, Baynam, Gareth, Weeramanthri, Tarun, Dawkins, Hugh, Hunter, Adam

Journal:

Source Code for Biology and Medicine

Year:

2013

Language:

english

File:

PDF, 323 KB

english, 2013

65

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome

Farmer, Amy, Aymé, Ségolène, de Heredia, Miguel, Maffei, Pietro, McCafferty, Susan, Młynarski, Wojciech, Nunes, Virginia, Parkinson, Kay, Paquis-Flucklinger, Véronique, Rohayem, Julia, Sinnott, Richar

Journal:

Year:

2013

Language:

english

File:

PDF, 645 KB

english, 2013

66

ISOTRETINOIN DOSE AND TERATOGENICITY

Ayme, Ségolène, Julian, Claire, Gambarelli, Danielle, Mariotti, Bernard, Maurin, Nicole

Journal:

Year:

1988

Language:

english

File:

PDF, 173 KB

english, 1988

67

Diffusion of information about genetic risk within families

Ayme, Ségolène, Macquart-Moulin, Geneviève, Julian-Reynier, Claire, Chabal, Françoise, Giraud, Francis

Journal:

Neuromuscular Disorders

Year:

1993

Language:

english

File:

PDF, 273 KB

english, 1993

68

Pfizer-sponsored satellite symposium at the European Haemophilia Consortium (EHC) Congress

O'Mahony, Brian, Kent, Alastair, Aymé, Ségolène

Journal:

European Journal of Haematology

Year:

2014

Language:

english

File:

PDF, 276 KB

english, 2014

69

The Role of Biobanking in Rare Diseases: European Consensus Expert Group Report

Lochmüller, Hanns, Aymé, Ségolène, Pampinella, Francesca, Melegh, Béla, Kuhn, Klaus A., Antonarakis, Stylianos E., Meitinger, Thomas

Journal:

Biopreservation and Biobanking

Year:

2009

Language:

english

File:

PDF, 62 KB

english, 2009

70

Erratum to: Dispelling myths about rare disease registry system development

Bellgard, Matthew, Beroud, Christophe, Parkinson, Kay, Harris, Tess, Ayme, Segolene, Baynam, Gareth, Weeramanthri, Tarun, Dawkins, Hugh, Hunter, Adam

Journal:

Source Code for Biology and Medicine

Year:

2014

Language:

english

File:

PDF, 97 KB

english, 2014

71

Letter to Human Genetics Journals

Journal:

Genetics in Medicine

Year:

1999

Language:

english

File:

PDF, 112 KB

english, 1999

72

Congenital Malformations and Maternal Occupational Exposure to Glycol Ethers

Sylvaine Cordier, Alain Bergeret, Janine Goujard, Marie-Catherine Ha, Ségolène Aymé, Fabrizio Bianchi, Elisa Calzolari, Hermien E. K. De Walle, Robin Knill-Jones, Silvia Candela, Ian Dale, Brigitte Da

Journal:

Year:

1997

Language:

english

File:

PDF, 1.75 MB

english, 1997

73

Maternal occupational exposure and congenital malformations

Sylvaine Cordier, Marie-Catherine Ha, Segolene Ayme and Janine Goujard

Journal:

Scandinavian Journal of Work Environment & Health

Year:

1992

Language:

english

File:

PDF, 856 KB

english, 1992

74

Maternal occupational risk factors for oral clefts

Christine Lorente, Sylvaine Cordier, Alain Bergeret, Hermien EK De Walle, Janine Goujard, Ségolène Aymé, Robin Knill-Jones, Elisa Calzolari, Fabrizio Bianchi and Occupational Exposure and Congenital M

Journal:

Scandinavian Journal of Work Environment & Health

Year:

2000

Language:

english

File:

PDF, 1.26 MB

english, 2000

75

Congenital Malformations and Maternal Occupational Exposure to Glycol Ethers

Cordier, Sylvaine, Bergeret, Alain, Goujard, Janine, Ha, Marie-Catherine, Aymé, Ségolène, Bianchi, Fabrizio, Calzolari, Elisa, De Walle, Hermien E. K., Knill-Jones, Robin, Candela, Silvia, Dale, Ian,

Journal:

Year:

1997

Language:

english

File:

PDF, 439 KB

english, 1997

76

Feasibility and performance of post-mortem examination to determine the aetiology of congenital anomalies in a population of 1019 foetal and perinatal deaths

JULIAN-REYNIER, CLAIRE, BATTISTA, RENALDO N., AYMÉ, SÉGOLÈNE

Journal:

The European Journal of Public Health

Year:

1993

Language:

english

File:

PDF, 466 KB

english, 1993

77

Factors influencing genetic counseling attendance rate: A geographically based study

Julian, Claire, Tordo, Marie‐Claude, Macquart‐Moulin, Geneviève, Moatti, Jean‐Paul, Giraud, Francis, Aymé, Ségolène

Journal:

Biodemography and Social Biology

Year:

1989

Language:

english

File:

PDF, 574 KB

english, 1989

78

The OrphanAnaesthesia Project

Becke, Karin, Aymé, Ségolène, Strau, Jochen, Veyckemans, Francis, Emmig, Uta

Journal:

European Journal of Anaesthesiology

Year:

2011

Language:

english

File:

PDF, 68 KB

english, 2011

79

The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort

Walker, Caroline E., Mahede, Trinity, Davis, Geoff, Miller, Laura J., Girschik, Jennifer, Brameld, Kate, Sun, Wenxing, Rath, Ana, Aymé, Ségolène, Zubrick, Stephen R., Baynam, Gareth S., Molster, Caron

Journal:

Genetics in Medicine

Year:

2016

Language:

english

File:

PDF, 651 KB

english, 2016

80

IRDiRC-recommended

Aymé, Ségolène

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 64 KB

english, 2016

81

Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

Aymé, Ségolène, Bockenhauer, Detlef, Day, Simon, Devuyst, Olivier, Guay-Woodford, Lisa M., Ingelfinger, Julie R., Klein, Jon B., Knoers, Nine V.A.M., Perrone, Ronald D., Roberts, Julia, Schaefer, Fran

Journal:

Kidney International

Year:

2017

Language:

english

File:

PDF, 554 KB

english, 2017

82

The development of the public and professional policy committee

Aymé, Ségolène, Cornel, Martina C

Journal:

European Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 351 KB

english, 2017

83

Walker-Warburg Syndrome: A Report of 3 Cases

Denis, Danièle, Gambarellï, Danielle, Luciani, Agnès, Aymé, Segolène, Philip, Nicole, Saracco, Jacques-Blaise

Journal:

Ophthalmologica

Year:

1993

Language:

english

File:

PDF, 621 KB

english, 1993

84

Les rencontres RARE 2017 vues du point de vue des professionnels de santé et de recherche

Aymé, Ségolène

Journal:

médecine/sciences

Year:

2018

File:

PDF, 545 KB

2018

85

Conclusions des rencontres RARE 2017

Triclin-Conseil, Nathalie, Aymé, Ségolène, Ferry, Antoine

Journal:

médecine/sciences

Year:

2018

Language:

french

File:

PDF, 692 KB

french, 2018

86

Les rencontres RARE 2017 vues du point de vue des professionnels de santé et de recherche

Aymé, Ségolène

Journal:

médecine/sciences

Year:

2018

Language:

french

File:

PDF, 545 KB

french, 2018

87

Où en est-on de la thérapeutique dans les maladies génétiques ?

Aymé, Ségolène

Journal:

Year:

2018

Language:

french

File:

PDF, 639 KB

french, 2018

88

Conférence 1

Aymé, Ségolène

Journal:

médecine/sciences

Year:

2016

Language:

french

File:

PDF, 173 KB

french, 2016