検索結果 - Marc Jeanpierre

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  1. 1
    A rapid method for the purification of DNA from blood

    A rapid method for the purification of DNA from blood 著者: Marc Jeanpierre

    出版事項 1987
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    Artigo
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  2. 2
    Construction and characterization of genomic libraries from specific human chromosomes.

    Construction and characterization of genomic libraries from specific human chromosomes. 著者: Robb Krumlauf, Marc Jeanpierre, Bryan D. Young

    出版事項 1982
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    Artigo
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  3. 3
    WT1 and PAX-2 Podocyte Expression in Denys-Drash Syndrome and Isolated Diffuse Mesangial Sclerosis

    WT1 and PAX-2 Podocyte Expression in Denys-Drash Syndrome and Isolated Diffuse Mesangial Sclerosis 著者: Youxin Yang, Marc Jeanpierre, Gregory R. Dressler, Mireille Lacoste, Patrick Niaudet, Marie‐Claire Gubler

    出版事項 1999
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    Artigo
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  4. 4
    Tumor-specific loss of 11p15.5 alleles in del11p13 Wilms tumor and in familial adrenocortical carcinoma.

    Tumor-specific loss of 11p15.5 alleles in del11p13 Wilms tumor and in familial adrenocortical carcinoma. 著者: Isabelle Henry, S Grandjouan, P. Couillin, F. Barichard, Marc Jeanpierre, Thomas Gläser, Thierry Philip, Gilbert Lenoir, J. L. Chaussain, Claudine Junien

    出版事項 1989
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    Artigo
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  5. 5
    Permanent muscle weakness in M<scp>C</scp>Ardle disease

    Permanent muscle weakness in M<scp>C</scp>Ardle disease 著者: Aleksandra Nadaj‐Pakleza, C. Vincitorio, Pascal Laforêt, B. Eymard, Élisabeth Dion, Susana Teijeira, Irene Vietez, Marc Jeanpierre, Carmen Navarro, Tanya Stojkovic

    出版事項 2009
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    Artigo
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  6. 6
    Spectrum of hSNF5IINI1 Somatic Mutations in Human Cancer and Genotype-Phenotype Correlations

    Spectrum of hSNF5IINI1 Somatic Mutations in Human Cancer and Genotype-Phenotype Correlations 著者: Nicolas Sévenet, Arielle Lellouch‐Tubiana, Deborah E. Schofield, Khê Hoang‐Xuan, Manfred Gessler, Daniel Birnbaum, Marc Jeanpierre, Anne Jouvet, Olivier Delattre

    出版事項 1999
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    Artigo
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  7. 7
    Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract

    Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract 著者: Laurence Heidet, Vincent Morinière, C. Henry, Lara De Tomasi, Madeline Louise Reilly, Camille Humbert, Olivier Alibeu, Cécile Fourrage, Christine Bôle‐Feysot, Patrick Nitschké, Frédéric Torès, Marc Bras, Marc Jeanpierre, Christine Piétrement, Dominique Gaillard, Marie Gonzalès, Robert Novo, Élise Schaefer, J. Roume, Jéléna Martinovic, Valérie Malan, Rémi Salomon, Sophie Saunier, Corinne Antignac, Marc Jeanpierre

    出版事項 2017
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    Artigo
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  8. 8
    Role for the Wilms tumor gene in genital development?

    Role for the Wilms tumor gene in genital development? 著者: Veronica van Heyningen, Wendy A. Bickmore, Anne Seawright, Judy Fletcher, John Maule, G. Fekete, Manfred Gessler, G.A.P. Bruns, Marc Jeanpierre, Claudine Junien

    出版事項 1990
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    Artigo
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  9. 9
    <i>TAC3</i>and<i>TACR3</i>Defects Cause Hypothalamic Congenital Hypogonadotropic Hypogonadism in Humans

    <i>TAC3</i>and<i>TACR3</i>Defects Cause Hypothalamic Congenital Hypogonadotropic Hypogonadism in Humans 著者: Jacques Young, Jérôme Bouligand, Bruno Francou, Marie-Laure Raffin-Sanson, Stéphanie Gaillez, Marc Jeanpierre, Michaël Grynberg, Peter Kamenický, Philippe Chanson, Sylvie Brailly‐Tabard, Anne Guiochon‐Mantel

    出版事項 2010
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    Artigo
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  10. 10
    Identification of Constitutional WT1 Mutations, in Patients with Isolated Diffuse Mesangial Sclerosis, and Analysis of Genotype/Phenotype Correlations by Use of a Computerized Mutation Database

    Identification of Constitutional WT1 Mutations, in Patients with Isolated Diffuse Mesangial Sclerosis, and Analysis of Genotype/Phenotype Correlations by Use of a Computerized Muta... 著者: Marc Jeanpierre, Érick Denamur, Isabelle Henry, M.-O. Cabanis, Sandrine Luce, A Cécille, Jacques Élion, M. Peuchmaur, Chantal Loirat, Patrick Niaudet, Marie‐Claire Gubler, Claudine Junien

    出版事項 1998
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    Artigo
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  11. 11
    FGF9 and FGF20 Maintain the Stemness of Nephron Progenitors in Mice and Man

    FGF9 and FGF20 Maintain the Stemness of Nephron Progenitors in Mice and Man 著者: Hila Barak, Sung‐Ho Huh, Shuang Chen, Marc Jeanpierre, Jéléna Martinovic, Mélanie Parisot, Christine Bôle‐Feysot, Patrick Nitschké, Rémi Salomon, Corinne Antignac, David M. Ornitz, Raphael Kopan

    出版事項 2012
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    Artigo
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  12. 12
    Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT)

    Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT) 著者: Kirsten Y. Renkema, Paul Winyard, Ilya Skovorodkin, Elena Levtchenko, An Hindryckx, Marc Jeanpierre, Stefanie Weber, Rémi Salomon, Corinne Antignac, Seppo Vainio, Andreas Schedl, Franz Schaefer, Nine V.A.M. Knoers, Ernie M.H.F. Bongers

    出版事項 2011
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    Revisão
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  13. 13
    Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes

    Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes 著者: Leire Madariaga, Vincent Morinière, Marc Jeanpierre, Raymonde Bouvier, Philippe Loget, Jéléna Martinovic, Pierre Déchelotte, Nathalie Leporrier, Christel Thauvin-Robinet, Uffe Birk Jensen, Dominique Gaillard, Michèle Mathieu, Bruno Turlin, Tania Attié‐Bitach, Rémi Salomon, Marie‐Claire Gubler, Corinne Antignac, Laurence Heidet

    出版事項 2013
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    Artigo
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  14. 14
    TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy

    TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy 著者: Sylvain Hanein, Isabelle Perrault, Olivier Roche, S. Gerber, Noman Khadom, Marlène Rio, Nathalie Boddaert, Marc Jeanpierre, Nora Brahimi, Valérie Serre, Dominique Chrétien, Nathalie Delphin, Lucas Fares‐Taie, Sahran Lachheb, Agnès Rötig, Françoise Meire, Arnold Münnich, Jean‐Louis Dufier, Josseline Kaplan, Jean‐Michel Rozet

    出版事項 2009
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    Artigo
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  15. 15
    RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects

    RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects 著者: Marc Jeanpierre, G. Macé, Mélanie Parisot, Vincent Morinière, A. Pawtowsky, Max E. Benabou, Jéléna Martinovic, Jeanne Amiel, Tania Attié‐Bitach, Anne‐Lise Delezoide, Philippe Loget, Patricia Blanchet, Dominique Gaillard, M. Gonzalés, Wassila Carpentier, Patrick Nitschké, Frédéric Torès, Laurence Heidet, Corinne Antignac, Rémi Salomon

    出版事項 2011
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    Artigo
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  16. 16
    Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

    Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans 著者: Camille Humbert, Flora Silbermann, Bharti Morar, Mélanie Parisot, Mohammed Zarhrate, Cécile Masson, Frédéric Torès, Patricia Blanchet, Marie-José Perez, Yuliya Petrov, Philippe Khau Van Kien, J. Roume, Brigitte Leroy, Olivier Gribouval, Luba Kalaydjieva, Laurence Heidet, Rémi Salomon, Corinne Antignac, Alexandre Benmerah, Sophie Saunier, Marc Jeanpierre

    出版事項 2014
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    Artigo
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  17. 17
    Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).

    Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). 著者: Alain Carrié, F. Piccolo, France Leturcq, Claudia de Toma, K. Azibi, C. Beldjord, Jean‐Michel Vallat, Luciano Merlini, Thomas Voit, Caroline A. Sewry, J.A. Urtizberea, Norma B. Romero, F.M.S. Tomé, Michel Fardeau, Yoshihide Sunada, Kevin P. Campbell, J.‐C. Kaplan, Marc Jeanpierre

    出版事項 1997
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    Artigo
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  18. 18
    Mutation History of the Roma/Gypsies

    Mutation History of the Roma/Gypsies 著者: Bharti Morar, David Gresham, Dora Angelicheva, Ivailo Tournev, Rebecca Gooding, Velina Guergueltcheva, Carolin Schmidt, Angela Abicht, Hanns Lochmüller, Attila Tordai, Lajos Kalmár, Melinda Nagy, Veronika Karcagi, Marc Jeanpierre, Ágnes Herczegfalvi, David Beeson, Viswanathan Venkataraman, Kim Warwick Carter, J. Reeve, Rosario de Pablo, Vaidutis Kučinskas, Luba Kalaydjieva

    出版事項 2004
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    Artigo
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  19. 19
    <i>DCDC2</i>Mutations Cause Neonatal Sclerosing Cholangitis

    <i>DCDC2</i>Mutations Cause Neonatal Sclerosing Cholangitis 著者: M Girard, Albane A. Bizet, Alain Lachaux, Emmanuel Gonzalès, Emilie Filhol, Sophie Collardeau‐Frachon, Marc Jeanpierre, C. Henry, Monique Fabrè, Loïc Viremouneix, Louise Galmiche, Dominique Debray, Christine Bôle‐Feysot, Patrick Nitschké, Danièle Pariente, Catherine Guettier, Stanislas Lyonnet, Laurence Heidet, Aurélia Bertholet, Emmanuel Jacquemin, Alexandra Henrion‐Caude, Sophie Saunier

    出版事項 2016
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    Artigo
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  20. 20
    Loss-of-function mutations in<i>KIF14</i>cause severe microcephaly and kidney development defects in humans and zebrafish

    Loss-of-function mutations in<i>KIF14</i>cause severe microcephaly and kidney development defects in humans and zebrafish 著者: Madeline Louise Reilly, Marijn Stokman, Virginie Magry, Marc Jeanpierre, Marine Alves, Mohammadjavad Paydar, Jacqueline R. Hellinga, Marion Delous, Daniel Pouly, Marion Failler, Jéléna Martinovic, Laurence Lœuillet, Brigitte Leroy, Julia Tantau, J. Roume, Cheryl Y. Gregory‐Evans, Xianghong Shan, Isabel Filges, John S. Allingham, Benjamin H. Kwok, Sophie Saunier, Rachel H. Giles, Alexandre Benmerah

    出版事項 2018
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    Artigo
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