Search Results - Robert Śmigiel

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  1. 1
    Migraine and Stroke: What’s the Link? What to Do?

    Migraine and Stroke: What’s the Link? What to Do? by Anna Gryglas, Robert Śmigiel

    Published 2017
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  2. 2
    CDKL5 Deficiency Disorder—A Complex Epileptic Encephalopathy

    CDKL5 Deficiency Disorder—A Complex Epileptic Encephalopathy by Martyna Jakimiec, Justyna Paprocka, Robert Śmigiel

    Published 2020
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  3. 3
    Kabuki Syndrome—Clinical Review with Molecular Aspects

    Kabuki Syndrome—Clinical Review with Molecular Aspects by Snir Boniel, Krystyna Szymańska, Robert Śmigiel, Krzysztof Szczałuba

    Published 2021
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  4. 4
    Treacher Collins Syndrome: Genetics, Clinical Features and Management

    Treacher Collins Syndrome: Genetics, Clinical Features and Management by Bożena Anna Marszałek-Kruk, Piotr Wójcicki, Krzysztof Dowgierd, Robert Śmigiel

    Published 2021
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  5. 5
    Methods for assessing the severity of perinatal asphyxia and early prognostic tools in neonates with hypoxic–ischemic encephalopathy treated with therapeutic hypothermia

    Methods for assessing the severity of perinatal asphyxia and early prognostic tools in neonates with hypoxic–ischemic encephalopathy treated with therapeutic hypothermia by Wojciech Walas, Maria Wilińska, Monika Bekiesińska‐Figatowska, Zenon Halaba, Robert Śmigiel

    Published 2020
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  6. 6
    Case Report: The long-term effects of the empagliflozin therapy on glycemia and renal function in a patient with Rabson-Mendenhall syndrome caused by two heterozygous variants in INSR gene

    Case Report: The long-term effects of the empagliflozin therapy on glycemia and renal function in a patient with Rabson-Mendenhall syndrome caused by two heterozygous variants in I... by Joanna Chrzanowska, Julia Lachowska, Maja Weimann, Agnieszka Zubkiewicz‐Kucharska, Konstancja Fornalczyk, Katarzyna Kiliś–Pstrusińska, Robert Śmigiel

    Published 2025
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  7. 7
    Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay – New Cases With TRAF7 Variants

    Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay – New Cases With TRAF7 Variants by Paprocka, Justyna, Nowak, Magdalena, Nieć, Maria, Janik, Izabela, Rydzanicz, Małgorzata, Robert, Śmigiel, Klaniewska, Magdalena, Rutkowska, Karolina, Płoski, Rafał, Jezela-Stanek, Aleksandra

    Published 2021
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  8. 8
    DNA Methylation Abundantly Associates with Fetal Alcohol Spectrum Disorder and its Subphenotypes

    DNA Methylation Abundantly Associates with Fetal Alcohol Spectrum Disorder and its Subphenotypes by Jan Maarten Cobben, I. Krzyzewska, Andrea Venema, Adri N. Mul, Abeltje M. Polstra, Alex V. Postma, Robert Śmigiel, Karolina Pesz, Jacek Nikliński, Monika Chomczyk, Peter Henneman, Marcel M.A.M. Mannens

    Published 2019
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  9. 9
    Mutation update for the PORCN gene

    Mutation update for the PORCN gene by Maria Lombardi, Saskia Bulk, Jacopo Celli, Anne Lampe, Michael T. Gabbett, Lilian Bomme Ousager, Jasper J. van der Smagt, Maria Soller, Eva‐Lena Stattin, Marcel A.M.M. Mannens, Robert Śmigiel, Raoul C. Hennekam

    Published 2011
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  10. 10
    iPSC-derived myelinoids to study myelin biology of humans

    iPSC-derived myelinoids to study myelin biology of humans by Owen G. James, Bhuvaneish T. Selvaraj, Dario Magnani, Karen Burr, Peter Connick, Samantha K. Barton, Navneet A. Vasistha, David W. Hampton, David Story, Robert Śmigiel, Rafał Płoski, Peter Brophy, Charles ffrench‐Constant, David A. Lyons, Siddharthan Chandran

    Published 2021
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  11. 11
    Amitriptyline use in individuals with <i>KCNQ2/3</i> gain‐of‐function variants: A retrospective cohort study

    Amitriptyline use in individuals with <i>KCNQ2/3</i> gain‐of‐function variants: A retrospective cohort study by Matthias De Wachter, Charissa Millevert, Joost Nicolai, Elisabeth A. Cats, Gerhard Kluger, Mathieu Milh, Robin Cloarec, Steffen Syrbe, Katrijn Arts, Katrien Jansen, Magdalena Krygier, Robert Śmigiel, Stéphane Auvin, Kern Olofson, Cathrine E. Gjerulfsen, Berten Ceulemans, Rikke S. Møller, Allan Bayat, Sarah Weckhuysen

    Published 2025
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  12. 12
    Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit

    Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit by Robert Śmigiel, Mateusz Biela, Krzysztof Szmyd, Michał Błoch, Elżbieta Szmida, Paweł Skiba, Anna Walczak, Piotr Gasperowicz, Joanna Kosińska, Małgorzata Rydzanicz, Piotr Stawiński, Anna Biernacka, Marzena Zielińska, W Gołebiowski, Agnieszka Jalowska, Grażyna Ohia, Bożena Głowska, Wojciech Walas, Barbara Królak‐Olejnik, Paweł Krajewski, Jolanta Sykut‐Cegielska, Maria Sąsiadek, Rafał Płoski

    Published 2020
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  13. 13
    Delineation of<i>EFTUD2</i>Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients

    Delineation of<i>EFTUD2</i>Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients by Daphné Lehalle, Christopher T. Gordon, Myriam Oufadem, Géraldine Goudefroye, Lucile Boutaud, Jean‐Luc Alessandri, Neus Baena, Geneviève Baujat, Clarisse Baumann, Odile Boute‐Bénéjean, Roseline Caumes, Christine Decaestecker, Dominique Gaillard, Alice Goldenberg, Marie Gonzalès, Muriel Holder‐Espinasse, Marie‐Line Jacquemont, Didier Lacombe, Sylvie Manouvrier‐Hanu, Sandrine Marlin, Michèle Mathieu‐Dramard, G Morin, Laurent Pasquier, Florence Petit, Marlène Rio, Robert Śmigiel, Christel Thauvin‐Robinet, Alexandre Vasiljevic, Alain Verloès, Valérie Malan, Arnold Münnich, Loïc de Pontual, Michel Vekemans, Stanislas Lyonnet, Tania Attié‐Bitach, Jeanne Amiel

    Published 2014
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  14. 14
    Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement

    Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement by Marcella Zollino, Christiane Zweier, Ingrid D. Van Balkom, David A. Sweetser, Joseph T. Alaimo, Emilia K. Bijlsma, Jannine D. Cody, Sarah H. Elsea, Irina Giurgea, Marina Macchiaiolo, Robert Śmigiel, Ronald L. Thibert, Ingrid Benoist, Jill Clayton‐Smith, C.F. de Winter, Stijn Deckers, Anusha Gandhi, Sylvia Huisman, Dagmar R. J. Kempink, Frea H. Kruisinga, Vittoria Lamacchia, Giuseppe Marangi, Leonie A. Menke, Paul A. Mulder, Ann Nordgren, Alessandra Renieri, Sue Routledge, Carol Saunders, Agnieszka Stembalska, Hans van Balkom, Sandra Whalen, Raoul C. M. Hennekam

    Published 2019
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  15. 15
    Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

    Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies by Rocío Acuña‐Hidalgo, Pelagia Derizioti, Marloes Steehouwer, Christian Gilissen, Sarah A. Graham, Sipko van Dam, Julie Hoover‐Fong, Aida Telegrafi, Anne Destrèe, Robert Śmigiel, Lindsday A. Lambie, Hülya Kayserili, Umut Altunoğlu, Elisabetta Lapi, Maria Luisa Giovannucci Uzielli, Mariana Aracena, Banu Nur, Ercan Mıhçı, Lília Maria de Azevedo Moreira, Viviane Borges Ferreira, Dafne Dain Gandelman Horovitz, Kátia M. Rocha, Aleksandra Jezela‐Stanek, Alice S. Brooks, Heiko Reutter, Julie S. Cohen, Ali Fatemi, Martin Smitka, Theresa A. Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaëlle André, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A. Veltman, Bert B.A. de Vries, Albert Schinzel, Simon E. Fisher, Alexander Hoischen, Bregje W.M. van Bon

    Published 2017
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  16. 16
    Mowat-Wilson syndrome: growth charts

    Mowat-Wilson syndrome: growth charts by Ivan Ivanovski, Olivera Djurić, Serena Broccoli, Stefano Giuseppe Caraffi, Patrizia Accorsi, Margaret P Adam, Kristina Avela, Magdalena Badura‐Stronka, Allan Bayat, Jill Clayton‐Smith, Isabella Cocco, Duccio Maria Cordelli, Goran Čuturilo, Veronica Di Pisa, Juliette Dupont Garcia, Roberto Gastaldi, Lucio Giordano, Andrea Guala, Christina Engel Hoei‐Hansen, Mie Inaba, Alessandro Iodice, Jens Erik Nielsen, Vladimir Kuburović, Brissia Lazalde-Medina, Barış Malbora, Seiji Mizuno, Oana Moldovan, Rikke S. Møller, Petra Muschke, Valeria Otelli, Chiara Pantaleoni, Carmelo Piscopo, María Luisa Poch-Olivé, Igor Prpić, Purificación Marín Reina, Federico Raviglione, Emilia Ricci, Emanuela Scarano, Graziella Simonte, Robert Śmigiel, George A. Tanteles, Luigi Tarani, Aurélien Trimouille, Elvis Terci Valera, Samantha A. Schrier Vergano, Karin Writzl, Bert Callewaert, Salvatore Savasta, Maria Elisabeth Street, Lorenzo Iughetti, Sergio Bernasconi, Paolo Giorgi Rossi, Livia Garavelli

    Published 2020
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  17. 17
    ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

    ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder by Raphaël Carapito, Ekaterina L. Ivanova, Aurore Morlon, Linyan Meng, Anne Molitor, Éva Erdmann, Bruno Kieffer, Angélique Pichot, Lydie Naegely, Aline Kolmer, Nicodème Paul, Antoine Hanauer, Frédéric Tran Mau‐Them, Nolwenn Jean‐Marçais, Susan M. Hiatt, Gregory M. Cooper, Tatiana Tvrdik, Alison M. Muir, Clémantine Dimartino, Maya Chopra, Jeanne Amiel, Christopher T. Gordon, Fabien Dutreux, Aurore Garde, Christel Thauvin‐Robinet, Xia Wang, Magalie S. Leduc, Meredith Phillips, Heather P. Crawford, Mary K. Kukolich, David Hunt, Victoria Harrison, Mira Kharbanda, Robert Śmigiel, Nina B. Gold, Christina Hung, David Viskochil, Sarah Dugan, Pınar Bayrak‐Toydemir, Géraldine Joly‐Helas, Anne‐Marie Guerrot, Caroline Schluth–Bolard, Marlène Rio, Ingrid M. Wentzensen, Kirsty McWalter, Rhonda E. Schnur, Andrea M. Lewis, Seema R. Lalani, Noël Mensah-Bonsu, Jocelyn Céraline, Zijie Sun, Rafał Płoski, Carlos A. Bacino, Heather C. Mefford, Laurence Faivre, Olaf A. Bodamer, Jamel Chelly, Bertrand Isidor, Seiamak Bahram

    Published 2019
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  18. 18
    Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

    Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care by Ivan Ivanovski, Olivera Djurić, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Simonetta Rosato, Duccio Maria Cordelli, Ebtesam Abdalla, Patrizia Accorsi, Margaret P Adam, Paola Francesca Ajmone, Magdalena Badura‐Stronka, Chiara Baldo, Maddalena Baldi, Allan Bayat, Stefania Bigoni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Čuturilo, Daniele De Brasi, Koenraad Devriendt, Mary Beth Dinulos, Tina Duelund Hjortshøj, Roberta Epifanio, Francesca Faravelli, Agata Fiumara, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Iughetti, Vladimir Kuburović, Anna Kutkowska‐Kaźmierczak, Didier Lacombe, Caterina Lo Rizzo, Anna Luchetti, Barış Malbora, Isabella Mammi, Francesca Mari, Giulia Montorsi, Sébastien Moutton, Rikke S. Møller, Petra Muschke, Jens Erik Nielsen, Ewa Obersztyn, Chiara Pantaleoni, Alessandro Pellicciari, Maria Antonietta Pisanti, Igor Prpić, María Luisa Poch-Olivé, Federico Raviglione, Alessandra Renieri, Emilia Ricci, Francesca Rivieri, Gijs W.E. Santen, Salvatore Savasta, Gioacchino Scarano, Ina Schanze, Angelo Selicorni, Margherita Silengo, Robert Śmigiel, Luigina Spaccini, Giovanni Sorge, Krzysztof Szczałuba, Luigi Tarani, Luíz Gonzaga Tone, Annick Toutain, Aurélien Trimouille, Elvis Terci Valera, Samantha A. Schrier Vergano, Nicoletta Zanotta, Martin Zenker, Andrea Conidi, Marcella Zollino, Anita Rauch, Christiane Zweier, Livia Garavelli

    Published 2018
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  19. 19
    CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

    CERT1 mutations perturb human development by disrupting sphingolipid homeostasis by Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López‐Martín, Eva Bermejo, Beatriz Martı́nez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W.M. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández‐Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López‐González, Lluı́s Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange‐Line Bruel, Frédéric Tran Mau‐Them, Alexis B.R. Maddocks, Jennifer Bain, Musadiq A. Bhat, Gregory Costain, Pekka Kannus, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna‐Cherchi, Bruno Lemaître, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marija Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino

    Published 2023
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  20. 20
    Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

    Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients by Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout, Caroline Pottinger, Bregje W.M. van Bon, Ivonne J.H.M. van Minderhout, Ronelle Snowdowne, Christian A.C. van der Lans, Merel W. Boogaard, Margot M. Linssen, Linda Vijfhuizen, Michiel J.R. van der Wielen, M.J. Ellen Vollebregt, Martijn H. Breuning, Marjolein Kriek, Arie van Haeringen, Johan T. den Dunnen, Alexander Hoischen, Jill Clayton‐Smith, Bert B.A. de Vries, Raoul C. M. Hennekam, Martine J. van Belzen, Mariam Almureikhi, Anwar Baban, Mafalda Barbosa, Tawfeg Ben‐Omran, Katherine Berry, Stefania Bigoni, Odile Boute, Louise Brueton, Ineke van der Burgt, Natalie Canham, Kate Chandler, Krystyńa Chrzańowska, Amanda Collins, Teresa De Toni, John Dean, Nicolette S. den Hollander, Leigh Anne Flore, Alan Fryer, Alice Gardham, John M. Graham, Victoria Harrison, Denise Horn, Marjolijn C.J. Jongmans, Dragana Josifova, Sarina G. Kant, Seema Kapoor, Helen Kingston, Usha Kini, Tjitske Kleefstra, Małgorzata Krajewska‐Walasek, Nancy Kramer, Saskia M. Maas, Patrı́cia Maciel, Grazia M.S. Mancini, Isabelle Maystadt, Shane McKee, Jeff M. Milunsky, Sheela Nampoothiri, Ruth Newbury‐Ecob, Sarah M. Nikkel, Michael Parker, Luis A. Pérez‐Jurado, Stephen P. Robertson, Caroline Rooryck, Debbie Shears, Margherita Silengo, Ankur Singh, Robert Śmigiel, Gabriela Soares, Miranda Splitt, Helen Stewart, Elizabeth Sweeney, May Tassabehji, Beyhan Tüysüz, Albertien M. van Eerde, Catherine Vincent‐Delorme, Louise C. Wilson, Gözde Yeşil

    Published 2013
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