Arama Sonuçları - Jolanta Wierzba

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  1. 1
    Prematurity and Low Birth Weight and Their Impact on Childhood Growth Patterns and the Risk of Long-Term Cardiovascular Sequelae

    Prematurity and Low Birth Weight and Their Impact on Childhood Growth Patterns and the Risk of Long-Term Cardiovascular Sequelae Yazar: Iwona Jańczewska, Jolanta Wierzba, Alicja Jańczewska, Małgorzata Szczurek-Gierczak, Iwona Domżalska-Popadiuk

    Baskı/Yayın Bilgisi 2023
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  2. 2
    Establishing a telerehabilitation program for patients with Duchenne muscular dystrophy in the COVID-19 pandemic

    Establishing a telerehabilitation program for patients with Duchenne muscular dystrophy in the COVID-19 pandemic Yazar: Agnieszka Sobierajska-Rek, Łukasz Mański, Joanna Jabłońska-Brudło, Karolina Śledzińska, Aleksandra Ucińska, Jolanta Wierzba

    Baskı/Yayın Bilgisi 2020
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  3. 3
    Phenotypes and genotypes in individuals with <i>SMC1A</i> variants

    Phenotypes and genotypes in individuals with <i>SMC1A</i> variants Yazar: Sylvia Huisman, Paul A. Mulder, E. Redeker, Ingrid Bader, Anne‐Marie Bisgaard, Alice S. Brooks, Anna Cereda, Constanza Cinca, Dinah Clark, Valérie Cormier‐Daire, Matthew A. Deardorff, Karin E. M. Diderich, Mariet Elting, Anthonie van Essen, David Fitzpatrick, Cristina Gervasini, Gabriele Gillessen‐Kaesbach, Katta M. Girisha, Yvonne Hilhorst‐Hofstee, Saskia Hopman, Denise Horn, Mala Isrie, Sandra Jansen, Cathrine Jespersgaard, Frank J. Kaiser, Maninder Kaur, Tjitske Kleefstra, Ian D. Krantz, Phillis Lakeman, Annemiek Landlust, Davor Lessel, Caroline Michot, Joanna Moss, Sarah E. Noon, Chris Oliver, Ilaria Parenti, Juan Pié, Feliciano J. Ramos, Claudine Rieubland, Silvia Russo, Angelo Selicorni, Zeynep Tümer, Rieneke Vorstenbosch, Tara Wenger, Ingrid van Balkom, Sigrid Piening, Jolanta Wierzba, Raoul C. M. Hennekam

    Baskı/Yayın Bilgisi 2017
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  4. 4
    Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

    Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement Yazar: Antonie D. Kline, Joanna Moss, Angelo Selicorni, Anne‐Marie Bisgaard, Matthew A. Deardorff, Peter M. Gillett, Stacey L. Ishman, Lynne M. Kerr, Alex V. Levin, Paul A. Mulder, Feliciano J. Ramos, Jolanta Wierzba, Paola Francesca Ajmone, David Axtell, Natalie Blagowidow, Anna Cereda, Maria Antonella Costantino, Valérie Cormier‐Daire, David Fitzpatrick, Marco A. Grados, Laura Groves, W. Spencer Guthrie, Sylvia Huisman, Frank J. Kaiser, Gerritjan Koekkoek, Mary Levis, Milena Mariani, Joseph P. McCleery, Leonie A. Menke, Amy Metrena, Julia T. O’Connor, Chris Oliver, Juan Pié, Sigrid Piening, Carol Potter, Ana L. Quaglio, E. Redeker, David M. Richman, Claudia Rigamonti, Angell Shi, Zeynep Tümer, Ingrid D. C. van Balkom, Raoul C. M. Hennekam

    Baskı/Yayın Bilgisi 2018
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  5. 5
    Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

    Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies Yazar: Michael D. Fountain, David S. Oleson, Megan Rech, Lara Segebrecht, Jill V. Hunter, John McCarthy, Philip J. Lupo, Manuel Holtgrewe, Rocio Moran, Jill A. Rosenfeld, Bertrand Isidor, Cédric Le Caignec, Margarita Sáenz, Robert C. Pedersen, Thomas M. Morgan, Jean P. Pfotenhauer, Fan Xia, Weimin Bi, Sung-Hae L. Kang, Ankita Patel, Ian D. Krantz, Sarah E. Raible, Wendy E. Smith, Ingrid Cristian, Erin Torti, Jane Juusola, Francisca Millan, Ingrid M. Wentzensen, Richard Person, Sébastien Küry, Stéphane Bézieau, Kévin Uguen, Claude Férec, Arnold Münnich, Mieke M. van Haelst, Klaske D. Lichtenbelt, Koen L.I. van Gassen, Tanner Hagelstrom, Aditi Chawla, Denise Perry, Ryan J. Taft, Marilyn C. Jones, Diane Masser‐Frye, David A. Dyment, Sunita Venkateswaran, Chumei Li, Luis Escobar, Denise Horn, Rebecca C. Spillmann, Loren D.M. Peña, Jolanta Wierzba, Tim M. Strom, Ilaria Parenti, Frank J. Kaiser, Nadja Ehmke, Christian P. Schaaf

    Baskı/Yayın Bilgisi 2019
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  6. 6
    Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study

    Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study Yazar: Ferdy S. van Geest, Stefan Groeneweg, Erica L.T. van den Akker, I. Bacos, Diana Bârcă, Sjoerd A.A. van den Berg, Enrico Bertini, Doris Brunner, Nicola Brunetti‐Pierri, Marco Cappa, Gerarda Cappuccio, Krishna Chatterjee, Alexander Chesover, Peter Christian, Régis Coutant, Dana Craiu, Patricia Crock, Cheyenne Dewey, Alice Dica, Paul Dimitri, Rachana Dubey, Anina Enderli, Jan Fairchild, Jonathan Gallichan, Luigi Garibaldi, Belinda George, Annette Hackenberg, Bianka Heinrich, Tony Huynh, Anna Kłosowska, Amy Lawson‐Yuen, M Linder-Lucht, Greta Lyons, Felipe Monti Lora, Carla Moran, Katalin Eszter Müller, Laura Paone, Praveen George Paul, Michel Polak, Francesco Porta, Christina Reinauer, Yolanda B. de Rijke, Rowen Seckold, tuba seven menevse, Peter Simm, Anna Simon, Marco Spada, Athanasia Stoupa, Lilla Szeifert, Davide Tonduti, Hans van Toor, Serap Turan, Joel A. Vanderniet, Monique de Waart, Ronald van der Wal, Adri van der Walt, Anne-Marie van Wermeskerken, Jolanta Wierzba, Federica Zibordi, Amnon Zung, Robin P. Peeters, W. Edward Visser

    Baskı/Yayın Bilgisi 2021
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  7. 7
    Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

    Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study Yazar: Stefan Groeneweg, van Geest FS, Ayhan Abacı, Alberto Alcantud, Ambegaonkar GP, Armour CM, Parkash A. Bakhtiani, Diana Bârcă, Bertini ES, van Beynum Im, Nicola Brunetti‐Pierri, Massimiliano Bugiani, Marco Cappa, Gerarda Cappuccio, Barbara Castellotti, Carlotta Castiglioni, Krishnarpan Chatterjee, de Coo IFM, Régis Coutant, Dana Craiu, Patricia Crock, Christian DeGoede, Koray Demir, Alice Dica, Paul Dimitri, Anna Dolcetta‐Capuzzo, Dremmen MHG, Rachana Dubey, Anina Enderli, Jan Fairchild, Jonathan Gallichan, Biju George, Gevers EF, Annette Hackenberg, Zita Halász, B. Heinrich, Thao Huynh, Anna Kłosowska, van der Knaap, van der Knoop, Daniel Konrad, Koolen DA, Heiko Krude, Amy Lawson‐Yuen, Jan Lebl, M Linder-Lucht, Lorea CF, Lourenco CM, RJ Lunsing, G Lyons, Jana Malíková, Mancilla EE, Aaron McGowan, Verónica Mericq, Lora FM, Cassandra Moran, Muller Ke, Isabelle Oliver‐Petit, Laura Paone, Paul PG, Michel Polak, Francesco Porta, Poswar FO, Christina Reinauer, Klára Roženková, Menevse TS, Peter Simm, András Simon, Yogesh Preet Singh, Marco Spada, van der Spek J, Stals MAM, Athanasia Stoupa, Subramanian GM, Davide Tonduti, Serkan Turan, den Uil CA, Joel A. Vanderniet, van der Walt A, Wémeau Jl, Jolanta Wierzba, de Wit MY, Nicole I. Wolf, Michael Wurm, Federica Zibordi, Amnon Zung, Nitash Zwaveling‐Soonawala, Visser WE

    Baskı/Yayın Bilgisi 2021
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  8. 8
    Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

    Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance Yazar: Frank J. Kaiser, Morad Ansari, Diana Braunholz, María Concepción Gil‐Rodríguez, Christophe Decroos, Jonathan J. Wilde, Christopher T. Fincher, Maninder Kaur, Masashige Bando, David J. Amor, Paldeep S. Atwal, Melanie Bahlo, Christine M. Bowman, Jacquelyn J. Bradley, Han G. Brunner, Dinah Clark, Miguel Del Campo, Nataliya Di Donato, Peter Diakumis, Holly Dubbs, David A. Dyment, Juliane Eckhold, Sarah Ernst, José Carlos Ferreira, Lauren J. Francey, Ulrike Gehlken, Encarna Guillén‐Navarro, Yolanda Gyftodimou, Bryan D. Hall, Raoul C. M. Hennekam, Louanne Hudgins, Melanie Hullings, Jennifer M. Hunter, Helger G. Yntema, A. Micheil Innes, Antonie D. Kline, Zita Krūmiņa, Hane Lee, Kathleen A. Leppig, Sally Ann Lynch, Mark Mallozzi, Linda Mannini, Shane McKee, Sarju Mehta, Ieva Mičule, Shehla Mohammed, Ellen Moran, Geert Mortier, J. Moser, Sarah E. Noon, Naohito Nozaki, Luís Nunes, John Pappas, Lynette S. Penney, Antonio Pérez Aytés, Michael B. Petersen, Beatriz Puisac, Nicole Revençu, Elizabeth Roeder, Sulagna C. Saitta, Angela E. Scheuerle, Karen L. Schindeler, Victoria Mok Siu, Zornitza Stark, Samuel P. Strom, Heidi Thiese, Inga Vater, Patrick J. Willems, Kathleen A. Williamson, Louise C. Wilson, Hákon Hákonarson, Fabiola Quintero‐Rivera, Jolanta Wierzba, Antonio Musio, Gabriele Gillessen‐Kaesbach, Feliciano J. Ramos, Laird G. Jackson, Katsuhiko Shirahige, Juan Pié, D.W. Christianson, Ian D. Krantz, David Fitzpatrick, Matthew A. Deardorff

    Baskı/Yayın Bilgisi 2014
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