Resultados de búsqueda - Jiddeke M. van de Kamp

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  1. 1
    The etiological evaluation of sensorineural hearing loss in children

    The etiological evaluation of sensorineural hearing loss in children por E.A. van Beeck Calkoen, M. S. D. Engel, Jiddeke M. van de Kamp, Helger G. Yntema, S. Theo Goverts, Mark Mulder, Paul Merkus, Erik F. Hensen

    Publicado 2019
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  2. 2
    Continuous Age- and Sex-Adjusted Reference Intervals of Urinary Markers for Cerebral Creatine Deficiency Syndromes: A Novel Approach to the Definition of Reference Intervals

    Continuous Age- and Sex-Adjusted Reference Intervals of Urinary Markers for Cerebral Creatine Deficiency Syndromes: A Novel Approach to the Definition of Reference Intervals por Lars Mørkrid, Alexander D. Rowe, Katja Benedikte Prestø Elgstøen, Jess Have Olesen, George J. G. Ruijter, Patricia Hall, Silvia Tortorelli, Andreas Schulze, Lianna Kyriakopoulou, Mirjam M. C. Wamelink, Jiddeke M. van de Kamp, Gajja S. Salomons, Piero Rinaldo

    Publicado 2015
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  3. 3
    Long‐term follow‐up and treatment in nine boys with X‐linked creatine transporter defect

    Long‐term follow‐up and treatment in nine boys with X‐linked creatine transporter defect por Jiddeke M. van de Kamp, Petra J. W. Pouwels, Femke K. Aarsen, Leontine W. ten Hoopen, Dirk L. Knol, Johannes B. de Klerk, I.F.M. de Coo, J. G. M. Huijmans, Cornelis Jakobs, Marjo S. van der Knaap, Gajja S. Salomons, Grazia M.S. Mancini

    Publicado 2011
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  4. 4
    The role of the clinician in the multi‐omics era: are you ready?

    The role of the clinician in the multi‐omics era: are you ready? por Clara D.M. van Karnebeek, Saskia B. Wortmann, Maja Tarailo‐Graovac, Mirjam Langeveld, Carlos R. Ferreira, Jiddeke M. van de Kamp, Carla E. M. Hollak, Wyeth W. Wasserman, Hans R. Waterham, Ron A. Wevers, Tobias B. Haack, Ronald J. A. Wanders, Kym M. Boycott

    Publicado 2018
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  5. 5
    Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

    Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation por Emilia K. Bijlsma, Andrew Collins, Filomena Tiziana Papa, María‐Isabel Tejada, Patricia G. Wheeler, E Peeters, A.C.J. Gijsbers, Jiddeke M. van de Kamp, Marjolein Kriek, Monique Losekoot, A.J. Broekma, John A. Crolla, Marzia Pollazzon, Mafalda Mucciolo, Eleni Katzaki, Vittoria Disciglio, Maria Immacolata Ferreri, Annabella Marozza, Maria Antonietta Mencarelli, Cinzia Castagnini, Laura Dosa, Francesca Ariani, Francesca Mari, Roberto Canitano, Joussef Hayek, M.P. Botella, Blanca Gener, Marina Mata Adolfo Mínguez, Alessandra Renieri, Claudia Ruivenkamp

    Publicado 2012
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  6. 6
    KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

    KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia por Maartje Pennings, Meyke Schouten, Judith van Gaalen, Rowdy Meijer, Susanne T. de Bot, Marjolein Kriek, Christiaan G. J. Saris, Leonard H. van den Berg, Michael A. van Es, Dick M. H. Zuidgeest, Mariet W. Elting, Jiddeke M. van de Kamp, Karin Y. van Spaendonck‐Zwarts, Christine de Die‐Smulders, Eva H. Brilstra, Corien Verschuuren, Bert B.A. de Vries, Jacques Bruijn, Kalliopi Sofou, Floor A.M. Duijkers, Bregje Jaeger, Jolanda Schieving, Bart P.C. van de Warrenburg, Erik-Jan Kamsteeg

    Publicado 2019
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  7. 7
    The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

    The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands por Celia Zazo Seco, Mieke Wesdorp, Ilse Feenstra, Rolph Pfundt, Jayne Y. Hehir‐Kwa, Stefan H. Lelieveld, Steven Castelein, Christian Gilissen, Ilse J. de Wijs, R.J.C. Admiraal, Ronald J. E. Pennings, Henricus P. M. Kunst, Jiddeke M. van de Kamp, Saskia Tamminga, Arjan C. Houweling, Astrid S. Plomp, Saskia M. Maas, Pia AM de Koning Gans, Sarina G. Kant, Christa M. de Geus, Suzanna G.M. Frints, Els K. Vanhoutte, Marieke F. van Dooren, Marie- José H van den Boogaard, Hans Scheffer, Marcel Nelen, Hannie Kremer, Lies H. Hoefsloot, Margit Schraders, Helger G. Yntema

    Publicado 2016
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  8. 8
    Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

    Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update por Lijia Huang, Megan R. Vanstone, Taila Hartley, Matthew Osmond, Nick Barrowman, Judith Allanson, Laura Baker, Tabib A. Dabir, Katrina M. Dipple, William B. Dobyns, Jane Estrella, Hanna Faghfoury, Francine Pinheiro Favaro, Himanshu Goel, Pernille Axél Gregersen, Karen W. Gripp, Art Grix, M. L. Guion‐Almeida, Margaret Harr, Cindy Hudson, Alasdair G. W. Hunter, John P. Johnson, Shelagh Joss, Amy Kimball, Usha Kini, Antonie D. Kline, Julie Lauzon, Dorte L. Lildballe, Vanesa López‐González, Johanna Martinezmoles, Cliff Meldrum, Ghayda Mirzaa, Chantal F. Morel, Jenny E.V. Morton, Louise C. Pyle, Fabiola Quintero‐Rivera, Julie Richer, Angela E. Scheuerle, Bitten Schönewolf‐Greulich, Deborah Shears, Josh Silver, Amanda Smith, I. Karen Temple, Jiddeke M. van de Kamp, Fleur S van Dijk, Anthony M. Vandersteen, Sue M. White, Elaine H. Zackai, Ruobing Zou, CareRare Canada Consortium, Dennis E. Bulman, Kym M. Boycott, Matthew A. Lines

    Publicado 2015
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  9. 9
    Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

    Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome por Federico Tessadori, Karen Duran, Karen Knapp, Matthias Fellner, Sarah Smithson, Ana Beleza‐Meireles, Mariet W. Elting, Quinten Waisfisz, Anne O’Donnell‐Luria, C. Nowak, Jessica Douglas, Anne Ronan, Theresa Brunet, Urania Kotzaeridou, Shayna Svihovec, Margarita Sáenz, Isabelle Thiffault, Florencia Del Viso, Patrick Devine, Shannon Rego, Jessica Tenney, Arie van Haeringen, Claudia Ruivenkamp, Saskia Koene, Stephen P. Robertson, Charulata Deshpande, Rolph Pfundt, Nienke E. Verbeek, Jiddeke M. van de Kamp, Janneke M.M. Weiss, Anna Ruiz, Elisabeth Gabau, Ehud Banne, Alexander Pepler, Armand Bottani, Sacha Laurent, Michel Guipponi, Emilia Bijlsma, Ange‐Line Bruel, Arthur Sorlin, Mary Willis, Zöe Powis, Thomas Smol, Catherine Vincent‐Delorme, Diana Baralle, Estelle Colin, Nicole Revençu, Eduardo Calpena, Andrew O.M. Wilkie, Maya Chopra, Valérie Cormier‐Daire, Boris Keren, Alexandra Afenjar, Marcello Niceta, Antonio Terracciano, Nicola Specchio, Marco Tartaglia, Marlène Rio, Giulia Barcia, Sophie Rondeau, Cindy Colson, Jeroen Bakkers, Peter D. Mace, Louise S. Bicknell, Gijs van Haaften

    Publicado 2022
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  10. 10
    Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

    Phenotype and genotype in 101 males with X-linked creatine transporter deficiency por 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

    Publicado 2013
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