תוצאות חיפוש - Emilia K. Bijlsma

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  1. 1
    Increased nuchal translucency thickness and normal karyotype: time for parental reassurance

    Increased nuchal translucency thickness and normal karyotype: time for parental reassurance מאת C. M. Bilardo, M. A. Müller, Eva Pajkrt, S. A. Clur, M. M. van Zalen, Emilia K. Bijlsma

    יצא לאור 2007
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    Artigo
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  2. 2
    Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system

    Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system מאת C.F. de Winter, Melanie A. M. Baas, Emilia K. Bijlsma, John van Heukelingen, Sue Routledge, Raoul C. M. Hennekam

    יצא לאור 2016
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    Artigo
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  3. 3
    Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience

    Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience מאת Clara van Karnebeek, Cindy Koevoets, Sigrid Sluijter, Emilia K. Bijlsma, Dominique Smeets, E. Redeker, Raoul C. M. Hennekam, J.M.N. Hoovers

    יצא לאור 2002
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    Artigo
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  4. 4
    Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context

    Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context מאת Michelle van Slobbe, Arie van Haeringen, Lisenka E.L.M. Vissers, Emilia K. Bijlsma, Julie W. Rutten, Manon Suerink, Esther Nibbeling, Claudia Ruivenkamp, Saskia Koene

    יצא לאור 2023
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    Artigo
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  5. 5
    Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range

    Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range מאת Hailey Findlay Black, Galen E.B. Wright, Jennifer A. Collins, Nicholas S. Caron, Chris Kay, Qingwen Xia, Larissa Arning, Emilia K. Bijlsma, Ferdinando Squitieri, Huu Phuc Nguyen, Michael R. Hayden

    יצא לאור 2020
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    Artigo
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  6. 6
    Diagnostic genetic testing for Huntington's disease

    Diagnostic genetic testing for Huntington's disease מאת David Craufurd, Rhona MacLeod, Marina Frontali, Oliver Quarrell, Emilia K. Bijlsma, Mary B. Davis, Lena E. Hjermind, Nayana Lahiri, Paola Mandich, A. Martinez, Aad Tibben, Raymund A.C. Roos

    יצא לאור 2014
    קבל טקסט מלא קבל טקסט מלא
    Revisão
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  7. 7
    CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila

    CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila מאת Christiane Zweier, Eiko K. de Jong, Markus Zweier, Alfredo Orrico, Lilian Bomme Ousager, Amanda Collins, Emilia K. Bijlsma, Merel A.W. Oortveld, Arif B. Ekici, André Reis, Annette Schenck, Anita Rauch

    יצא לאור 2009
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    Artigo
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  8. 8
    Efficacy of Baricitinib in the Treatment of Chilblains Associated With Aicardi‐Goutières Syndrome, a Type I Interferonopathy

    Efficacy of Baricitinib in the Treatment of Chilblains Associated With Aicardi‐Goutières Syndrome, a Type I Interferonopathy מאת Kornvalee Meesilpavikkai, Willem A. Dik, Benjamin Schrijver, Cornelia G van Helden-Meeuwsen, Marjan A. Versnel, P. Martin van Hagen, Emilia K. Bijlsma, Claudia Ruivenkamp, Margreet J. Oele, Virgil A. S. H. Dalm

    יצא לאור 2019
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    Artigo
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  9. 9
    A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first

    A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first מאת Antoinet C.J. Gijsbers, Janet YK Lew, Cathy A.J. Bosch, Janneke Schuurs-Hoeijmakers, Arie van Haeringen, Nicolette S. den Hollander, Sarina G. Kant, Emilia K. Bijlsma, Martijn H. Breuning, Egbert Bakker, Claudia Ruivenkamp

    יצא לאור 2009
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    Artigo
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  10. 10
    Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

    Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression מאת Markus Zweier, Anne Gregor, Christiane Zweier, Hartmut Engels, Heinrich Sticht, Eva Wohlleber, Emilia K. Bijlsma, Susan Holder, Martin Zenker, Eva Rossier, Ute Grasshoff, Diana Johnson, Lisa Robertson, Helen V. Firth, Cornelia Kraus, Arif B. Ekici, André Reis, Anita Rauch

    יצא לאור 2010
    קבל טקסט מלא
    Artigo
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  11. 11
    Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents

    Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents מאת Carla Rosenberg, Jeroen Knijnenburg, Egbert Bakker, Angela Maria Vianna‐Morgante, Willem C.R. Sloos, Paulo Alberto Otto, Marjolein Kriek, Kerstin Hansson, Ana Cristina Victorino Krepischi, Heike Fiegler, Nigel P. Carter, Emilia K. Bijlsma, Arie van Haeringen, Károly Szuhai, Hans J. Tanke

    יצא לאור 2005
    קבל טקסט מלא
    Carta
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  12. 12
    Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome

    Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome מאת Olga S. Koutsopoulos, Christine Kretz, Claudia M Weller, Aurélien Roux, Halina Mojzisova, Johann Böhm, Catherine Koch, Anne Toussaint, Émilie Heckel, Daphne Stemkens, Simone A. J. ter Horst, Christelle Thibault-Carpentier, Muriel Koch, S. Qasim Mehdi, Emilia K. Bijlsma, Jean‐Louis Mandel, Julien Vermot, Jocelyn Laporte

    יצא לאור 2012
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    Artigo
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  13. 13
    Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

    Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1 מאת Anne Gregor, Beate Albrecht, Ingrid Bader, Emilia K. Bijlsma, Arif B. Ekici, Hartmut Engels, Karl Hackmann, Denise Horn, Juliane Hoyer, Jakub Klapecki, Jürgen Kohlhase, Isabelle Maystadt, Sandra Nagl, Eva Christina Prott, Sigrid Tinschert, Reinhard Ullmann, Eva Wohlleber, Geoffrey Woods, André Reis, Anita Rauch, Christiane Zweier

    יצא לאור 2011
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    Artigo
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  14. 14
    Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

    Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome) מאת Christiane Zweier, Maarit Peippo, Juliane Hoyer, Sérgio B. Sousa, Armand Bottani, Jill Clayton‐Smith, William Reardon, Jorge Saraiva, Alexandra Cabral, Ina Göhring, Koenraad Devriendt, Thomy de Ravel, Emilia K. Bijlsma, Raoul C. M. Hennekam, Alfredo Orrico, Monika Cohen, Alexander Dreweke, André Reis, Peter Nürnberg, Anita Rauch

    יצא לאור 2007
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    Artigo
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  15. 15
    Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease

    Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease מאת Galen E.B. Wright, Jennifer A. Collins, Chris Kay, Cassandra McDonald, Egor Dolzhenko, Qingwen Xia, Kristina Bečanović, Britt I. Drögemöller, Alicia Semaka, Charlotte Nguyen, Brett Trost, Fiona Richards, Emilia K. Bijlsma, Ferdinando Squitieri, Colin J.D. Ross, Stephen W. Scherer, Michael A. Eberle, Ryan K. C. Yuen, Michael R. Hayden

    יצא לאור 2019
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    Artigo
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  16. 16
    Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients

    Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients מאת Christiane Zweier, Heinrich Sticht, Emilia K. Bijlsma, Jill Clayton‐Smith, Susanne E. Boonen, Alan Fryer, Marie T. Greally, Ling Hoffmann, Nicolette S. den Hollander, Marjolijn C.J. Jongmans, Sarina G. Kant, Matthew King, Sally Ann Lynch, Shane McKee, Alina T. Midro, Park Sm, Valeria Ricotti, E Tarantino, M.W. Wessels, Maarit Peippo, Anita Rauch

    יצא לאור 2008
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    Carta
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  17. 17
    Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

    Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome מאת Josephina Meester, Laura Southgate, Anna-Barbara Stittrich, Hanka Venselaar, Sander J.A. Beekmans, Nicolette den Hollander, Emilia K. Bijlsma, Appolonia Helderman-van den Enden, Joanne Verheij, Gustavo Glusman, Jared C. Roach, Anna Lehman, Millan S. Patel, Bert de Vries, Claudia Ruivenkamp, Peter Itin, Katrina Prescott, S.D. Clarke, Richard C. Trembath, Martin Zenker, Maja Sukalo, Lut Van Laer, Bart Loeys, Wim Wuyts

    יצא לאור 2015
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    Artigo
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  18. 18
    Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1

    Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1 מאת Anne Slavotinek, Sergio E. Baranzini, Denny Schanze, Cassandre Labelle‐Dumais, Kieran M. Short, Richard C. Chao, Mani Yavi, Emilia K. Bijlsma, Catherine Chu, Stacy L. Musone, Amanda Wheatley, Pui‐Yan Kwok, Sandra L. Marles, J. P. Fryns, A. Murat Maga, Mohamed G. Hassan, Douglas B. Gould, Lohith Madireddy, Chumei Li, Timothy C. Cox, Ian Smyth, Albert E. Chudley, Martin Zenker

    יצא לאור 2011
    קבל טקסט מלא
    Artigo
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  19. 19
    Expansion and mechanistic insights into <i>de novo</i> DEAF1 variants in <i>DEAF1</i>-associated neurodevelopmental disorders

    Expansion and mechanistic insights into <i>de novo</i> DEAF1 variants in <i>DEAF1</i>-associated neurodevelopmental disorders מאת Stacey McGee, Shivakumar Rajamanickam, Sandeep Adhikari, Oluwatosin C Falayi, Theresa A. Wilson, Brian J. Shayota, Jessica A. Cooley Coleman, Cindy Skinner, Raymond Caylor, Roger E. Stevenson, Caio Robledo D’Angioli Costa Quaio, Berenice Cunha Wilke, Jennifer Bain, Kwame Anyane‐Yeboa, Kaitlyn Brown, John M. Greally, Emilia K. Bijlsma, Claudia Ruivenkamp, Keren Politi, Lydia A. Arbogast, Michael W. Collard, Jodi I. Huggenvik, Sarah H. Elsea, Philip J. Jensik

    יצא לאור 2022
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    Artigo
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  20. 20
    Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

    Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals מאת Emilia K. Bijlsma, A.C.J. Gijsbers, Janneke Schuurs-Hoeijmakers, Arie van Haeringen, Dietje E. Fransen van de Putte, Britt‐Marie Anderlid, Johanna Lundin, Pablo Lapunzina, L.A. Pérez Jurado, Barbara Delle Chiaie, Bart Loeys, Björn Menten, Anna Oostra, Hélène Verhelst, David J. Amor, Damien L. Bruno, A.J. van Essen, Roel Hordijk, Birgit Sikkema‐Raddatz, K. T. Verbruggen, M.C.J. Jongmans, Rolph Pfundt, H.M. Reeser, M.H. Breuning, Claudia Ruivenkamp

    יצא לאור 2009
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    Artigo
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