खोज परिणाम - Steichen-Gersdorf, Elisabeth

  • प्रदर्शित 1 - 9 परिणाम 9
परिणाम को परिष्कृत करें
  1. 1
    Maternal ABCA1 genotype is associated with severity of Smith–Lemli–Opitz syndrome and with viability of patients homozygous for null mutations

    Maternal ABCA1 genotype is associated with severity of Smith–Lemli–Opitz syndrome and with viability of patients homozygous for null mutations द्वारा Lanthaler, Barbara, Steichen-Gersdorf, Elisabeth, Kollerits, Barbara, Zschocke, Johannes, Witsch-Baumgartner, Martina

    प्रकाशित 2013
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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  2. 2
    The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review

    The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review द्वारा Colman, Marlies, Van Damme, Tim, Steichen-Gersdorf, Elisabeth, Laccone, Franco, Nampoothiri, Sheela, Syx, Delfien, Guillemyn, Brecht, Symoens, Sofie, Malfait, Fransiska

    प्रकाशित 2019
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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    में बचाया:
  3. 3
    Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype–phenotype correlation

    Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype–phenotype correlation द्वारा Baumann, Matthias, Steichen-Gersdorf, Elisabeth, Krabichler, Birgit, Petersen, Britt-Sabina, Weber, Ulrike, Schmidt, Wolfgang M, Zschocke, Johannes, Müller, Thomas, Bittner, Reginald E, Janecke, Andreas R

    प्रकाशित 2017
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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    में बचाया:
  4. 4
    Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder – an alternative therapeutic approach

    Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder – an alternative therapeutic approach द्वारा Pichler, Karin, Karall, Daniela, Kotzot, Dieter, Steichen-Gersdorf, Elisabeth, Rümmele-Waibel, Alexandra, Mittaz-Crettol, Laureane, Wanschitz, Julia, Bonafé, Luisa, Maurer, Kathrin, Superti-Furga, Andrea, Scholl-Bürgi, Sabine

    प्रकाशित 2016
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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    में बचाया:
  5. 5
    Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications

    Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications द्वारा Janecke, Andreas R, Xu, Ruijuan, Steichen-Gersdorf, Elisabeth, Waldegger, Siegfried, Entenmann, Andreas, Giner, Thomas, Krainer, Iris, Huber, Lukas A, Hess, Michael W, Frishberg, Yaacov, Barash, Hila, Tzur, Shay, Schreyer-Shafir, Nira, Sukenik–Halevy, Rivka, Zehavi, Tania, Raas-Rothschild, Annick, Mao, Cungui, Müller, Thomas

    प्रकाशित 2017
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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    में बचाया:
  6. 6
    Familial Site-specific Ovarian Cancer Is Linked to BRCA1 on 17q12-21

    Familial Site-specific Ovarian Cancer Is Linked to BRCA1 on 17q12-21 द्वारा Steichen-Gersdorf, Elisabeth, Gallion, Holly H., Ford, Deborah, Girodet, Catherine, Easton, Douglas F., DiCioccio, Richard A., Evans, Gareth, Ponder, Margaret A., Pye, Carole, Mazoyer, Sylvie, Noguchi, Tetsuro, Karengueven, Fabienne, Sobol, Hagay, Hardouin, A., Bignon, Yves-Jean, Piver, M. Steven, Smith, Simon A., Ponder, Bruce A. J.

    प्रकाशित 1994
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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  7. 7
    SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

    SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects द्वारा Dubail, Johanne, Huber, Céline, Chantepie, Sandrine, Sonntag, Stephan, Tüysüz, Beyhan, Mihci, Ercan, Gordon, Christopher T., Steichen-Gersdorf, Elisabeth, Amiel, Jeanne, Nur, Banu, Stolte-Dijkstra, Irene, van Eerde, Albertien M., van Gassen, Koen L., Breugem, Corstiaan C., Stegmann, Alexander, Lekszas, Caroline, Maroofian, Reza, Karimiani, Ehsan Ghayoor, Bruneel, Arnaud, Seta, Nathalie, Munnich, Arnold, Papy-Garcia, Dulce, De La Dure-Molla, Muriel, Cormier-Daire, Valérie

    प्रकाशित 2018
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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    में बचाया:
  8. 8
    A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

    A large-scale mutation search reveals genetic heterogeneity in 3M syndrome द्वारा Huber, Céline, Delezoide, Anee-Lise, Guimiot, Fabien, Baumann, Clarisse, Malan, Valérie, Le Merrer, Martine, Da Silva, Daniela Bezerra, Bonneau, Dominique, Chatelain, Pierre, Chu, Carol, Clark, Robin, Cox, Helen, Edery, Patrick, Edouard, Thomas, Fano, Virginia, Gibson, Kate, Gillessen-Kaesbach, Gabriele, Giovannucci-Uzielli, Maria-Luisa, Graul-Neumann, Luitgard Margarete, van Hagen, Johana-Maria, van Hest, Liselot, Horovitz, Dafne, Melki, Judith, Partsch, Carl-Joachim, Plauchu, Henry, Rajab, Anna, Rossi, Massimiliano, Sillence, David, Steichen-Gersdorf, Elisabeth, Stewart, Helen, Unger, Sheila, Zenker, Martin, Munnich, Arnold, Cormier-Daire, Valérie

    प्रकाशित 2009
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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    में बचाया:
  9. 9
    15 years of research on Oral-Facial-Digital syndromes: from 1 to 16 causal genes

    15 years of research on Oral-Facial-Digital syndromes: from 1 to 16 causal genes द्वारा Bruel, Ange-Line, Franco, Brunella, Duffourd, Yannis, Thevenon, Julien, Jego, Laurence, Lopez, Estelle, Deleuze, Jean-François, Doummar, Diane, Giles, Rachel H., Johnson, Colin A., Huynen, Martijn A., Chevrier, Véronique, Burglen, Lydie, Morleo, Manuela, Desguerres, Isabelle, Pierquin, Geneviève, Doray, Bérénice, Gilbert-Dussardier, Brigitte, Reversade, Bruno, Steichen-Gersdorf, Elisabeth, Baumann, Clarisse, Panigrahi, Inusha, Fargeot-Espaliat, Anne, Dieux, Anne, David, Albert, Goldenberg, Alice, Bongers, Ernie, Gaillard, Dominique, Argente, Jesús, Aral, Bernard, Gigot, Nadège, St-Onge, Judith, Birnbaum, Daniel, Phadke, Shubha R., Cormier-Daire, Valérie, Eguether, Thibaut, Pazour, Gregory J., Herranz-Pérez, Vicente, Lee, Jaclyn S., Pasquier, Laurent, Loget, Philippe, Saunier, Sophie, Mégarbané, André, Rosnet, Olivier, Leroux, Michel R., Wallingford, John B., Blacque, Oliver E., Nachury, Maxence V., Attie-Bitach, Tania, Rivière, Jean-Baptiste, Faivre, Laurence, Thauvin-Robinet, Christel

    प्रकाशित 2017
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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