खोज परिणाम - Yves Sznajer

  • प्रदर्शित 1 - 20 परिणाम 20
परिणाम को परिष्कृत करें
  1. 1
    LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma

    LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma द्वारा Julie Désir, Yves Sznajer, Fanny Depasse, Françoise Roulez, Marc Schrooyen, Françoise Meire, Marc Abramowicz

    प्रकाशित 2010
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  2. 2
    Defining a Centiloid scale threshold predicting long-term progression to dementia in patients attending the memory clinic: an [18F] flutemetamol amyloid PET study

    Defining a Centiloid scale threshold predicting long-term progression to dementia in patients attending the memory clinic: an [18F] flutemetamol amyloid PET study द्वारा Bernard Hanseeuw, Vincent Malotaux, Laurence Dricot, Lisa Quenon, Yves Sznajer, Jiří Cerman, John L. Woodard, Christopher Buckley, Gill Farrar, Adrian Ivanoiu, Renaud Lhommel

    प्रकाशित 2020
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  3. 3
    Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion

    Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion द्वारा Joaquim Calado, Yves Sznajer, Daniel L. Metzger, Ana Rita, Marie C. Hogan, Antonios Kattamis, M. Scharf, Velibor Tasić, Johann Greil, Florian Brinkert, Markus J. Kemper, René Santer

    प्रकाशित 2008
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  4. 4
    DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

    DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III द्वारा Nathalie Dagoneau, Marie Goulet, David Geneviève, Yves Sznajer, Jéléna Martinovic, Sarah Smithson, Céline Huber, Geneviève Baujat, Elisabeth Flori, Laura Tecco, Denise P. Cavalcanti, Anne‐Lise Delezoide, Valérie Serre, Martine Le Merrer, Arnold Münnich, Valérie Cormier‐Daire

    प्रकाशित 2009
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  5. 5
    Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: Inconsistent correlation between forkhead box protein 3 expression and disease severity

    Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: Inconsistent correlation between forkhead... द्वारा Eleonora Gambineri, L Perroni, Laura Passerini, Lucia Bianchi, Claudio Doglioni, Franco Meschi, Riccardo Bonfanti, Yves Sznajer, Alberto Tommasini, Ánita Lawitschka, Anne Junker, Désirée Dunstheimer, Peter H. Heidemann, Giantonio Cazzola, Marco Cipolli, Wilhelm Friedrich, Dragana Janić, Nadira Azzi, Erick Richmond, Silvia Vignola, A. Barabino, G Chiumello, Chiara Azzari, Maria-Grazia Roncarolo, Rosa Bacchetta

    प्रकाशित 2008
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  6. 6
    A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

    A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies द्वारा Marie Coutelier, Giulia Coarelli, Marie‐Lorraine Monin, Juliette Konop, Claire-Sophie Davoine, Christelle Tesson, Rémi Valter, Mathieu Anheim, Anthony Béhin, Giovanni Castelnovo, Perrine Charles, Albert David, Claire Ewenczyk, Mélanie Fradin, Cyril Goizet, Didier Hannequin, Pierre Labauge, Florence Riant, Pierre Sarda, Yves Sznajer, François Tison, Urielle Ullmann, Lionel Van Maldergem, Fanny Mochel, Alexis Brice, Giovanni Stévanin, Alexandra Dürr

    प्रकाशित 2017
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  7. 7
    Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

    Outcome of publicly funded nationwide first-tier noninvasive prenatal screening द्वारा Kris Van Den Bogaert, Lore Lannoo, Nathalie Brison, Vincent Gâtinois, Machteld Baetens, Bettina Blaumeiser, François Boemer, Laura Bourlard, Vincent Bours, Anne De Leener, Marjan De Rademaeker, Julie Désir, Annelies Dheedene, Armelle Duquenne, Nathalie Fieremans, Annelies Fieuw, Jean‐Stéphane Gatot, Bernard Grisart, Katrien Janssens, Sandra Janssens, Damien Lederer, Axel Marichal, Björn Menten, Colombine Meunier, Léonor Palmeira, Bruno Pichon, Eva Sammels, Guillaume Smits, Yves Sznajer, Elise Vantroys, Koenraad Devriendt, Joris Vermeesch

    प्रकाशित 2021
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  8. 8
    Mutations in ZBTB24 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2

    Mutations in ZBTB24 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2 द्वारा Jessica C. de Greef, Jun Wang, Judit Balog, Johan T. den Dunnen, Rune R. Frants, Kirsten R. Straasheijm, Caner Aytekin, Mirjam van der Burg, Laurence Duprez, Alina Ferster, Andrew R. Gennery, Giorgio Gimelli, İsmail Reisli, Catharina Schuetz, Ansgar Schulz, Dominique Smeets, Yves Sznajer, Cisca Wijmenga, M C van Eggermond, Monique M. van Ostaijen-ten Dam, Arjan C. Lankester, Maarten J. D. van Tol, Peter J. van den Elsen, Corry M.R. Weemaes, Silvère M. van der Maarel

    प्रकाशित 2011
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  9. 9
    Myhre and LAPS syndromes: clinical and molecular review of 32 patients

    Myhre and LAPS syndromes: clinical and molecular review of 32 patients द्वारा Caroline Michot, Carine Le Goff, Clémentine Mahaut, Alexandra Afenjar, Alice S. Brooks, Philippe M. Campeau, Anne Destrèe, Maja Di Rocco, Dian Donnai, Raoul C. M. Hennekam, Delphine Héron, Sébastien Jacquemont, Pekka Kannus, Angela E. Lin, Sylvie Manouvrier‐Hanu, Sahar Mansour, Sandrine Marlin, Ruth McGowan, Helen Murphy, Annick Raas‐Rothschild, Marlène Rio, Marleen Simon, Irene Stolte‐Dijkstra, James R. Stone, Yves Sznajer, John Tolmie, Renaud Touraine, Jenneke van den Ende, Nathalie Van der Aa, Ton van Essen, Alain Verloès, Arnold Münnich, Valérie Cormier‐Daire

    प्रकाशित 2014
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  10. 10
    ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

    ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variant... द्वारा Miriam Bauwens, Alejandro Garanto, Riccardo Sangermano, Sarah Naessens, Nicole Weisschuh, Julie De Zaeytijd, Mubeen Khan, Françoise Sadler, Irina Balikova, Caroline Van Cauwenbergh, Toon Rosseel, Jim Bauwens, Kim De Leeneer, Sarah De Jaegere, Thalia Van Laethem, Meindert De Vries, Keren Carss, Gavin Arno, Ana Fakin, Andrew R. Webster, Thomy J.L. de Ravel de l’Argentière, Yves Sznajer, Marnik Vuylsteke, Susanne Kohl, Bernd Wissinger, Timothy J. Cherry, Rob W.J. Collin, Frans P.M. Cremers, Bart P. Leroy, Elfride De Baere

    प्रकाशित 2019
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  11. 11
    Autosomal recessive primary microcephaly due to <i>ASPM</i> mutations: An update

    Autosomal recessive primary microcephaly due to <i>ASPM</i> mutations: An update द्वारा Pascaline Létard, Séverine Drunat, Yoann Vial, Sarah Duerinckx, Anais Ernault, Daniel Amram, Stéphanie Arpin, Marta Bértoli, Tiffany Busa, Berten Ceulemans, Julie Désir, Martine Doco‐Fenzy, Siham Chafai Elalaoui, Koenraad Devriendt, Laurence Faivre, Christine Francannet, David Geneviève, Marion Gérard, Cyril Gitiaux, Sophie Julia, Sébastien Lebon, Toni Kasole Lubala, Michèle Mathieu‐Dramard, Hélène Maurey, Julia Métreau, Sanaa Nasserereddine, Mathilde Nizon, Geneviève Pierquin, Nathalie Pouvreau, Clothilde Rivier-Ringenbach, Massimiliano Rossi, Élise Schaefer, Abdelaziz Sefiani, Sabine Sigaudy, Yves Sznajer, Yusuf Tunca, Sophie Guilmin‐Crépon, Corinne Alberti, Monique Elmaleh, Brigitte Benzacken, Bernd Wollnick, C. Geoffrey Woods, Anita Rauch, Marc Abramowicz, Vincent El Ghouzzi, Pierre Gressèns, Alain Verloès, Sandrine Passemard

    प्रकाशित 2017
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  12. 12
    Further delineation of the KAT6B molecular and phenotypic spectrum

    Further delineation of the KAT6B molecular and phenotypic spectrum द्वारा Tamsin Gannon, Rahat Perveen, Hélene Schlecht, Simon Ramsden, Beverley Anderson, Bronwyn Kerr, Ruth Day, Siddharth Banka, Mohnish Suri, Siren Berland, Michael T. Gabbett, Alan Ma, Stanislas Lyonnet, Valérie Cormier‐Daire, Rüstem Yilmaz, Guntram Borck, Dagmar Wieczorek, Britt‐Marie Anderlid, Sarah Smithson, Julie Vogt, Heather Moore-Barton, Pelin Özlem Şimşek‐Kiper, Isabelle Maystadt, Anne Destrèe, Jessica Bucher, Brad Angle, Shehla Mohammed, Emma Wakeling, Sue Price, Amihood Singer, Yves Sznajer, Annick Toutain, Damien Haye, Ruth Newbury‐Ecob, Mélanie Fradin, Julie McGaughran, Beyhan Tüysüz, Mark Tein, Katelijne Bouman, Tabib Dabir, Jenneke van den Ende, Ho‐Ming Luk, Daniela T. Pilz, Jacqueline Eason, Sally Davies, William Reardon, Livia Garavelli, Orsetta Zuffardi, Koenraad Devriendt, Ruth Armstrong, Diana Johnson, Martine Doco‐Fenzy, Emilia Bijlsma, Sheila Unger, Hermine E. Veenstra‐Knol, Jürgen Kohlhase, Ivan F. M. Lo, Janine Smith, Jill Clayton‐Smith

    प्रकाशित 2014
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  13. 13
    Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

    Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases द्वारा Alain Verloès, Nataliya Di Donato, Julien Masliah‐Planchon, Marjolijn C.J. Jongmans, Omar A Abdul-Raman, Beate Albrecht, Judith Allanson, Han G. Brunner, Débora Romeo Bertola, Nicolas Chassaing, Albert David, Koenraad Devriendt, Pirayeh Eftekhari, Valérie Drouin‐Garraud, Francesca Faravelli, Laurence Faivre, Fabienne Giuliano, Leina Guion Almeida, Jorge L. Juncos, Marlies Kempers, Hatice Koçak Eker, Didier Lacombe, Angela E. Lin, Grazia M.S. Mancini, Daniela Melis, Charles Marques Lourenço, Victoria Mok Siu, G Morin, Marjan M. Nezarati, Małgorzata J.M. Nowaczyk, Jeanette C. Ramer, Sara Osimani, Nicole Philip, Mary Ella Pierpont, Vincent Procaccio, Zeichi-Seide Roseli, Massimiliano Rossi, Cristina Rusu, Yves Sznajer, Ludivine Templin, Vera Uliana, Mirjam Klaus, Bregje W.M. van Bon, Conny van Ravenswaaij, Bruce H. Wainer, Andrew E. Fry, Andreas Rump, Alexander Hoischen, Séverine Drunat, Jean‐Baptiste Rivière, William B. Dobyns, Daniela T. Pilz

    प्रकाशित 2014
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  14. 14
    Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

    Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency द्वारा Svjetlana Lovric, Sara Gonçalves, Heon Yung Gee, Babak Oskouian, Srinivas Honnappa, Won‐Il Choi, Shirlee Shril, Shazia Ashraf, Weizhen Tan, Jia Rao, Merlin Airik, David Schapiro, Daniela A. Braun, Carolin E. Sadowski, Eugen Widmeier, Tilman Jobst‐Schwan, Johanna Magdalena Schmidt, Vladimir Girik, Guido Capitani, Jung H. Suh, Noëlle Lachaussée, Christelle Arrondel, Julie Patat, Olivier Gribouval, Mónica Furlano, Olivia Boyer, Alain Schmitt, Vincent Vuiblet, Seema Hashmi, Rainer Wilcken, François Bernier, A. Micheil Innes, Jillian S. Parboosingh, Ryan E. Lamont, Julian Midgley, Nicola Wright, Jacek Majewski, Martin Zenker, Franz Schaefer, Navina Kuß, Johann Greil, Thomas Giese, Klaus Schwarz, Vilain Catheline, Denny Schanze, Ingolf Franke, Yves Sznajer, Anne S. Truant, Brigitte Adams, Julie Désir, Ronald Biemann, York Pei, Elisabet Ars, Núria Lloberas, A. Madrid, Vikas R. Dharnidharka, Anne M. Connolly, Marcia Willing, Megan A. Cooper, Richard P. Lifton, Matias Simons, Howard Riezman, Corinne Antignac, Julie D. Saba, Friedhelm Hildebrandt

    प्रकाशित 2017
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  15. 15
    Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

    Phenotype and genotype in 101 males with X-linked creatine transporter deficiency द्वारा Jiddeke M. van de Kamp, Ofir T. Betsalel, Saadet Mercimek‐Mahmutoglu, Lara Abulhoul, Stephanie Grünewald, Irina Anselm, Hatem Azzouz, Drago Bratkovic, Arjan de Brouwer, Ben C.J. Hamel, Tjitske Kleefstra, Helger G. Yntema, Jaume Campistol, Marta Vilaseca, David Cheillan, Marc D’Hooghe, Luísa Diogo, Paula Garcia, Carla Valongo, Maria José Fonseca, Suzanna G.M. Frints, Bridget Wilcken, Sigrun von der Haar, Hanne Meijers‐Heijboer, Floris C. Hofstede, Diana Johnson, Sarina G. Kant, Laurence Lion‐François, G. Pitelet, Nicola Longo, J A Maat-Kievit, João Monteiro, Arnold Münnich, Ania C. Muntau, Marie‐Cécile Nassogne, Hitoshi Osaka, Katrin Õunap, Jean-Marc Pinard, Susana Quijano‐Roy, I Poggenburg, Nicola Poplawski, Omar Abdul‐Rahman, Antònia Ribes, Ángela Arias, Joy Yaplito‐Lee, Andreas Schulze, Charles E. Schwartz, Susanne Schwenger, G. Soares, Yves Sznajer, Vassili Valayannopoulos, Hilde Van Esch, Stephan Waltz, Mirjam M. C. Wamelink, Petra J. W. Pouwels, Abdellatif Errami, Marjo S. van der Knaap, C. Jakobs, Grazia M.S. Mancini, Gajja S. Salomons

    प्रकाशित 2013
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  16. 16
    Novel<i>FOXF1</i>Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

    Novel<i>FOXF1</i>Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain द्वारा Partha Sen, Yaping Yang, C. Navarro, Iris A. L. Silva, Przemysław Szafrański, Katarzyna Kołodziejska, Avinash V. Dharmadhikari, Hasnaa R. Mostafa, Harry P. Kozakewich, Debra L. Kearney, John B. Cahill, Merrissa Whitt, Masha Bilic, Linda R. Margraf, Adrian Charles, Jack Goldblatt, Kathleen Gibson, Patrick E. Lantz, A. Julian Garvin, John K. Petty, Zeina Kiblawi, Craig W. Zuppan, Allyn McConkie‐Rosell, Marie McDonald, Stacey L. Peterson‐Carmichael, Jane T. Gaede, Binoy Shivanna, Deborah Schady, Philippe Friedlich, Stephen R. Hays, Irene Valenzuela, Ulrike Siebers‐Renelt, Axel Bohring, Laura S. Finn, Joseph R. Siebert, Csaba Galambos, Lananh Nguyen, Melissa Riley, Nicolas Chassaing, Adeline Vigouroux, Gustavo Rocha, Susana Fernandes, Jane E. Brumbaugh, Kari E. Roberts, Luk Ho-Ming, Ivan F. M. Lo, Stephen T.S. Lam, Romana Gerychová, Marta Ježová, Iveta Valášková, Florence Fellmann, Katayoun Afshar, Éric Giannoni, Vincent Muhlethaler, Jinlong Liang, J. Beckmann, Janet Lioy, Hitesh Deshmukh, Lakshmi Srinivasan, Daniel T. Swarr, Melissa Sloman, Charles Shaw‐Smith, Rosa Laura van Loon, Cecilia Hagman, Yves Sznajer, Catherine Barréa, Christine Galant, Thierry Detaille, Jennifer Wambach, F. Sessions Cole, Aaron Hamvas, Lawrence S. Prince, Karin E. M. Diderich, Alice S. Brooks, Robert M. Verdijk, Hari Ravindranathan, Ella Sugo, David Mowat, Michael Baker, Claire Langston, Stephen E. Welty, Paweł Stankiewicz

    प्रकाशित 2013
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  17. 17
    PEDIA: prioritization of exome data by image analysis

    PEDIA: prioritization of exome data by image analysis द्वारा Tzung‐Chien Hsieh, Martin A. Mensah, Jean Tori Pantel, Dione Aguilar, Omri Bar, Allan Bayat, Luis E. Becerra-Solano, Heidi Beate Bentzen, Saskia Biskup, Oleg Borisov, Øivind Braaten, Claudia Ciaccio, Marie Coutelier, Kirsten Cremer, Magdalena Danyel, Svenja Daschkey, Hilda David Eden, Koenraad Devriendt, Sandra Wilson, Sofia Douzgou, Dejan Đukić, Nadja Ehmke, Christine Fauth, Björn Fischer‐Zirnsak, Nicole Fleischer, Heinz Gabriel, Luitgard Graul‐Neumann, Karen W. Gripp, Yaron Gurovich, А.А. Гусина, Nechama Haddad, Nurulhuda Hajjir, Yair Hanani, Jakob Hertzberg, Konstanze Hoertnagel, Janelle Howell, Ivan Ivanovski, Angela M. Kaindl, Tom Kamphans, Susanne Kamphausen, Catherine Karimov, Hadil Kathom, Anna Keryan, Alexej Knaus, Sebastian Köhler, Uwe Kornak, А. В. Лавров, Maximilian Leitheiser, Gholson J. Lyon, Elisabeth Mangold, Purificación Marín Reina, Antonio Martínez Carrascal, Diana Mitter, Laura Morlán Herrador, Guy Nadav, Markus M. Nöthen, Alfredo Orrico, Claus‐Eric Ott, Kristen Park, Borut Peterlin, Laura Pölsler, Annick Raas‐Rothschild, Linda M. Randolph, Nicole Revençu, Christina Fagerberg, Peter Nick Robinson, Stanislav Rosnev, Sabine Rudnik, Goražd Rudolf, Ulrich A. Schatz, Anna Schossig, Max Schubach, Or Shanoon, Eamonn Sheridan, Pola Smirin‐Yosef, Malte Spielmann, Eun-Kyung Suk, Yves Sznajer, Christian T. Thiel, Gundula Thiel, Alain Verloès, Irena Vrečar, Dagmar Wahl, Ingrid Weber, Korina Winter, Marzena Wiśniewska, Bernd Wollnik, Ming Wai Yeung, Max Zhao, Na Zhu, Johannes Zschocke, Stefan Mundlos, Denise Horn, Peter Krawitz

    प्रकाशित 2019
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  18. 18
    Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

    Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy द्वारा Ana Töpf, Dan Cox, Irina Zaharieva, Valeria Di Leo, J. Sarparanta, Per Harald Jonson, Ian M. Sealy, Andrei Smolnikov, Richard White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M. Laricchia, Cristina Venturini, Bas Vroling, Sarah L. Stenton, Beryl B. Cummings, Elizabeth Harris, Chiara Marini‐Bettolo, Jordi Díaz‐Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina England, Jane Patrick, Sundos Al-Husayni, Valérie Biancalana, Alan H. Beggs, István Bódi, Shobhana Bommireddipalli, Carsten G. Bönnemann, Anita Cairns, Mei-Ting Chiew, Kristl G. Claeys, Sandra T. Cooper, Mark R. Davis, Sandra Donkervoort, Corrie E. Erasmus, Mahmoud R. Fassad, Casie A. Genetti, Carla Grosmann, Heinz Jungbluth, Erik‐Jan Kamsteeg, Xavière Lornage, Wolfgang N. Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana Mongini, Nuria Muelas, Atsuko Nishikawa, Anne O’Donnell‐Luria, Narumi Ogonuki, Gina O’Grady, Emily O’Heir, Stéphanie Paquay, Rahul Phadke, Beth A. Pletcher, Norma B. Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W. Taylor, Allysa Tuite, Peter Van den Bergh, Grace E. VanNoy, Nicol C. Voermans, Julia Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C. Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan J. Vílchez, Daniel G. MacArthur, Anna Sárközy, Heather J. Cordell, Bjarne Udd, Elisabeth M. Busch‐Nentwich, Francesco Muntoni, Volker Straub

    प्रकाशित 2024
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  19. 19
    Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

    Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins द्वारा Przemysław Szafrański, Tomasz Gambin, Avinash V. Dharmadhikari, Kadir C. Akdemir, Shalini N. Jhangiani, Jennifer Schuette, Nihal Godiwala, Svetlana A. Yatsenko, Jessica Sebastian, Suneeta Madan‐Khetarpal, Urvashi Surti, Rosanna Abellar, David Bateman, Ashley Wilson, Melinda H. Markham, Jill Slamon, Fernando Santos‐Simarro, María Palomares‐Bralo, Julián Nevado, Pablo Lapunzina, Brian Hon‐Yin Chung, Wai-Lap Wong, Yoyo Wing Yiu Chu, Gary Tsz Kin Mok, Eitan Kerem, Joel Reiter, Namasivayam Ambalavanan, Scott Anderson, David R. Kelly, Joseph T.C. Shieh, Taryn C. Rosenthal, Kristin Scheible, Laurie A. Steiner, M. Anwar Iqbal, Margaret L. McKinnon, Sara Hamilton, Kamilla Schlade‐Bartusiak, D. W. English, Glenda Hendson, Elizabeth Roeder, Thomas S. DeNapoli, Rebecca O. Littlejohn, Daynna J. Wolff, Carol L. Wagner, Alison Yeung, David Francis, Elizabeth K. Fiorino, Morris Edelman, Joyce E. Fox, Denise A. Hayes, Sandra Janssens, Elfride De Baere, Björn Menten, Anne Loccufier, Lieve Vanwalleghem, Philippe Moerman, Yves Sznajer, Amy S. Lay, Jennifer Kussmann, Jasneek Chawla, Diane Payton, Gael E. Phillips, Erwin Brosens, Dick Tibboel, Annelies de Klein, Isabelle Maystadt, Richard Fisher, Neil J. Sebire, Alison Male, Maya Chopra, Jason Pinner, Girvan Malcolm, Gregory B. Peters, Susan Arbuckle, Melissa Lees, Zoe Mead, Oliver Quarrell, Richard Sayers, Martina Owens, Charles Shaw‐Smith, Janet Lioy, Eileen McKay, Nicole de Leeuw, Ilse Feenstra, Liesbeth Spruijt, Frances Elmslie, Timothy Thiruchelvam, Carlos A. Bacino, Claire Langston, James R. Lupski, Partha Sen, Edwina J. Popek, Paweł Stankiewicz

    प्रकाशित 2016
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  20. 20
    Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

    Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness द्वारा Ana Töpf, Katherine Johnson, Adam Bates, Lauren Phillips, Katherine R. Chao, Eleina England, Kristen M. Laricchia, T. Mullen, Elise Valkanas, Liwen Xu, Marta Bértoli, A. Blain, Ana Casasús, Jennifer Duff, Magdalena Mroczek, Sabine Specht, Monkol Lek, Monica Ensini, Daniel G. MacArthur, Ela Akay, Jorge Alonso‐Pérez, Jonathan Baets, Nina Barišić, Alexandra Bastian, S. Borell, Teodora Chamova, Kristl G. Claeys, Jaume Colomer, Sandra Coppens, Nicolas Deconinck, Willem De Ridder, Jordi Díaz‐Manera, Cristina Domínguez‐González, Alexis E. Duncan, Hacer Durmuş, Nagia Fahmy, Maria Elena Farrugia, Roberto Fernández‐Torrón, Lídia González-Quereda, Jana Haberlová, Maja von der Hagen, Andreas Hahn, Antonia Jakovčević, I. Jericó Pascual, Solange Kapetanovic, Viktorija Ķēniņa, Janbernd Kirschner, Andrea Klein, Heike Kölbel, Anna Kostera‐Pruszczyk, R. Kulshrestha, Jaana Lähdetie, Mahsa Layegh, Cheryl Longman, Adolfo López de Munaín, Wolfgang N. Löscher, Anna Łusakowska, Paul Maddison, Armelle Magot, Anirban Majumdar, Pilar Martí, Amaia Martínez Arroyo, Radim Mazanec, Sandra Mercier, Tiziana Mongini, Nuria Muelas, A. Nascimento, Shahriar Nafissi, Shirin Jamal Omidi, C. Ortez, Stéphanie Paquay, Yann Péréon, Stojan Perić, Valentina Ponzalino, Vidosava Rakočević Stojanović, Gauthier Remiche, Aida Rodríguez Sainz, Sabine Rudnik, I Sánchez Albisua, Manuela Santos, Ulrike Schara, Andriy Shatillo, Jadranka Sertić, Ulrich Stephani, Sonja Strang‐Karlsson, Yves Sznajer, Ani Tanev, Ivailo Tournev, Peter Van den Bergh, Vinciane Van Parijs, Juan J. Vílchez, Katharina Vill, John Vissing, Carina Wallgren‐Pettersson, Julia Wanschitz, Tracey Willis, Nanna Witting, Miren Zulaica, Volker Straub

    प्रकाशित 2020
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:

खोज साधन: