Search Results - Inge B. Mathijssen

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  1. 1
    Targeted ultrasound examination and DNA testing for Noonan syndrome, in fetuses with increased nuchal translucency and normal karyotype

    Targeted ultrasound examination and DNA testing for Noonan syndrome, in fetuses with increased nuchal translucency and normal karyotype by Marian K. Bakker, Eva Pajkrt, Inge B. Mathijssen, Caterina M. Bilardo

    Published 2011
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  2. 2
    Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

    Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis by Tessa van Dijk, Sacha Ferdinandusse, Jos P.N. Ruiter, Mariëlle Alders, Inge B. Mathijssen, Jillian S. Parboosingh, A. Micheil Innes, Hanne Meijers-Heijboer, Bwee Tien Poll‐The, François Bernier, Ronald J. A. Wanders, Ryan E. Lamont, Frank Baas

    Published 2018
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  3. 3
    Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence

    Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence by Maria B. Tan-Sindhunata, Inge B. Mathijssen, Margriet Smit, Frank Baas, Johanna I. de Vries, J. Patrick van der Voorn, Irma Kluijt, Marleen A. Hagen, Eveline W Blom, Erik A. Sistermans, Hanne Meijers‐Heijboer, Quinten Waisfisz, Marjan M. Weiss, Alexander J. Groffen

    Published 2014
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  4. 4
    Patient-Specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction

    Patient-Specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction by Antoinette F. van Ouwerkerk, Fernanda M. Bosada, Karel van Duijvenboden, Arjan C. Houweling, Koen T. Scholman, Vincent Wakker, Cornelis P. Allaart, Jae‐Sun Uhm, Inge B. Mathijssen, Ton Baartscheer, Alex V. Postma, Phil Barnett, Arie O. Verkerk, Bastiaan J. Boukens, Vincent M. Christoffels

    Published 2022
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  5. 5
    Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings

    Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings by Ellen A. Croonen, Willy M. Nillesen, Kyra E. Stuurman, Grétel Oudesluijs, Ingrid M B M van de Laar, Liesbeth Martens, Charlotte W. Ockeloen, Inge B. Mathijssen, Marga Schepens, Martina Ruiterkamp‐Versteeg, Hans Scheffer, Brigitte H. W. Faas, Ineke van der Burgt, Helger G. Yntema

    Published 2013
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  6. 6
    The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

    The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families by Michael D. Fountain, Emmelien Aten, Megan T. Cho, Jane Juusola, Magdalena Walkiewicz, Joseph W. Ray, Fan Xia, Yaping Yang, Brett H. Graham, Carlos A. Bacino, Lorraine Potocki, Arie van Haeringen, Claudia Ruivenkamp, Pedro Mancías, Hope Northrup, Mary K. Kukolich, Marjan M. Weiss, Conny M.A. van Ravenswaaij‐Arts, Inge B. Mathijssen, Sébastien Levesque, Naomi Meeks, Jill A. Rosenfeld, Danielle Lemke, Ada Hamosh, M. E. Suzanne Lewis, Simone Race, Laura Stewart, Beverly N. Hay, Andrea M. Lewis, Rita Guerreiro, José Brás, Marcia P. Martins, G Derksen‐Lubsen, E Peeters, Connie T. R. M. Stumpel, Alexander P.A. Stegmann, Levinus A. Bok, Gijs W.E. Santen, Christian P. Schaaf

    Published 2016
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  7. 7
    Variants in<i>CUL4B</i>are Associated with Cerebral Malformations

    Variants in<i>CUL4B</i>are Associated with Cerebral Malformations by Anneke T. Vulto-van Silfhout, Tadashi Nakagawa, Nadia Bahi‐Buisson, Stefan A. Haas, Hao Hu, Melanie Bienek, Lisenka E.L.M. Vissers, Christian Gilissen, Andreas Tzschach, Andreas Busche, Jörg Müsebeck, Patrick Rump, Inge B. Mathijssen, Kristiina Avela, Mirja Somer, Fatma Doagu, Anju K. Philips, Anita Rauch, Alessandra Baumer, Krysta Voesenek, Karine Poirier, Jacqueline Vigneron, Daniel Amram, Sylvie Odent, Magdalena Nawara, Ewa Obersztyn, Jacek Lenart, Agnieszka Charzewska, Nicolas Lebrun, Ute Fischer, Willy M. Nillesen, Helger G. Yntema, Irma Järvelä, Hans-Hilger Ropers, Bert B.A. de Vries, Han G. Brunner, Hans van Bokhoven, F. Lucy Raymond, Michèl A.A.P. Willemsen, Jamel Chelly, Yue Xiong, A. James Barkovich, Vera M. Kalscheuer, Tjitske Kleefstra, Arjan P.M. de Brouwer

    Published 2014
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  8. 8
    Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

    Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome by Saskia M. Maas, Adam Shaw, Hennie Bikker, H.-J. Lüdecke, Karin van der Tuin, Magdalena Badura‐Stronka, Elga Fabia Belligni, Elisa Biamino, Maria Teresa Bonati, Daniel R. Carvalho, Jan-Maarten Cobben, de Man, Nicolette S. den Hollander, Nataliya Di Donato, Livia Garavelli, Sabine Grønborg, Johanna C. Herkert, A. Jeannette M. Hoogeboom, Aleksander Jamsheer, Anna Latos‐Bieleńska, Anneke Maat‐Kievit, Cinzia Magnani, Carlo Marcelis, Inge B. Mathijssen, Maartje Nielsen, Ellen Otten, Lilian Bomme Ousager, Jacek Pilch, Astrid S. Plomp, Gemma Poke, Anna Poluha, Renata Posmyk, Claudine Rieubland, Margharita Silengo, Marleen Simon, Elisabeth Steichen, Connie T. R. M. Stumpel, Katalin Szakszon, Edit Polonkai, Jenneke van den Ende, Antony van der Steen, Ton van Essen, Arie van Haeringen, Johanna M. van Hagen, Joanne Verheij, Marcel M.A.M. Mannens, Raoul C. M. Hennekam

    Published 2015
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  9. 9
    Further delineation of Malan syndrome

    Further delineation of Malan syndrome by Manuela Priolo, Denny Schanze, Katrin Tatton-Brown, Paul A. Mulder, Jair Tenorio, Kreepa Kooblall, Inés Hernández Acero, Fowzan S. Alkuraya, Pedro Arias, Laura Bernardini, Emilia K. Bijlsma, Trevor Cole, Christine Coubes, Irene Dapía, Sally Davies, Nataliya Di Donato, Nursel Elçioğlu, Jill A. Fahrner, Alison Foster, Noelia García González, Ilka Huber, Maria Iascone, Ann-Sophie Kaiser, Arveen Kamath, Jan Liebelt, Sally Ann Lynch, Saskia M. Maas, Corrado Mammì, Inge B. Mathijssen, Shane McKee, Leonie A. Menke, Ghayda Mirzaa, Tara Montgomery, D. Neubauer, Thomas Neumann, Letizia Pintomalli, Maria Antonietta Pisanti, Astrid S. Plomp, Sue Price, Claire Salter, Fernando Santos‐Simarro, Pierre Sarda, Mabel Segovia, Charles Shaw‐Smith, Sarah Smithson, Mohnish Suri, Rita Valdéz, Arie van Haeringen, Johanna M. van Hagen, Marcella Zollino, Pablo Lapunzina, Rajesh V. Thakker, Martin Zenker, Raoul C. M. Hennekam

    Published 2018
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