檢索結果 - Sascha Vermeer

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  1. 1
    Mutation Analysis of CHRNA1, CHRNB1, CHRND, and RAPSN Genes in Multiple Pterygium Syndrome/Fetal Akinesia Patients

    Mutation Analysis of CHRNA1, CHRNB1, CHRND, and RAPSN Genes in Multiple Pterygium Syndrome/Fetal Akinesia Patients 由 Julie Vogt, Benjamin J. Harrison, Hayley Spearman, Judy Cossins, Sascha Vermeer, Lambert Naudin ten Cate, Neil V. Morgan, David Beeson, Eamonn R. Maher

    出版 2008
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  2. 2
    A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay

    A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay 由 Teisha Y. Bradshaw, Lisa E. L. Romano, Emma J. Duncan, Suran Nethisinghe, Rosella Abeti, Gregory J. Michael, Paola Giunti, Sascha Vermeer, J. Paul Chapple

    出版 2016
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  3. 3
    Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders

    Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders 由 Bart P.C. van de Warrenburg, Meyke Schouten, Susanne T. de Bot, Sascha Vermeer, Rowdy Meijer, Maartje Pennings, Christian Gilissen, Michèl AAP Willemsen, Hans Scheffer, Erik‐Jan Kamsteeg

    出版 2016
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  4. 4
    <i>GJA1</i>mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype

    <i>GJA1</i>mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype 由 William A. Paznekas, Barbara Karczeski, Sascha Vermeer, R. Brian Lowry, Martin B. Delatycki, Faivre Laurence, Pasi A. Koivisto, Lionel Van Maldergem, Simeon A. Boyadjiev, Joann Bodurtha, Ethylin Wang Jabs

    出版 2009
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  5. 5
    ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

    ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia 由 Sascha Vermeer, Rowdy Meijer, Benjamin J. Pijl, Janneke Timmermans, J.R.M. Cruysberg, Maaike M. Bos, Helenius J. Schelhaas, Bart P.C. van de Warrenburg, Nine Knoers, Hans Scheffer, B. Kremer

    出版 2008
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  6. 6
    Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)

    Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA) 由 David A. Koolen, Willy M. Nillesen, Martina H. A. Versteeg, Gerard Merkx, Nine V.A.M. Knoers, Marleen Kets, Sascha Vermeer, Conny M.A. van Ravenswaaij, Carolien G. F. de Kovel, Han G. Brunner, Dominique Smeets, Bert B.A. de Vries, Erik A. Sistermans

    出版 2004
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  7. 7
    Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature

    Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature 由 Bert Callewaert, Bart Loeys, Anna Ficcadenti, Sascha Vermeer, Magnus Landgren, Hester Y. Kroes, Yuval Yaron, Michael Pope, Nicola Foulds, Odile Boute, Francisco Galán, Helen Kingston, Nathalie Van der Aa, Iratxe Salcedo, Mariëlle E.M. Swinkels, Carina Wallgren‐Pettersson, Orazio Gabrielli, Julie De Backer, Paul Coucke, Anne M. De Paepe

    出版 2008
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  8. 8
    Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

    Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy 由 Kornelia Neveling, Lilian A. Martinez-Carrera, Irmgard Hölker, Angelien Heister, Aad Verrips, Seyyedmohsen Hosseinibarkooie, Christian Gilissen, Sascha Vermeer, Maartje Pennings, Rowdy Meijer, Margot te Riele, Catharina J.M. Frijns, Oksana Suchowersky, Linda MacLaren, Sabine Rudnik–Schöneborn, Richard J. Sinke, Klaus Zerres, R. Brian Lowry, Henny H. Lemmink, Lutz Garbes, Joris A. Veltman, Helenius J. Schelhaas, Hans Scheffer, Brunhilde Wirth

    出版 2013
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  9. 9
    Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

    Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations 由 Charlotte W. Ockeloen, Marjolein H. Willemsen, Sonja de Munnik, Bregje W.M. van Bon, Nicole de Leeuw, Aad Verrips, Sarina G. Kant, Elizabeth A. Jones, Han G. Brunner, Rosa Laura E. van Loon, Eric Smeets, Mieke M. van Haelst, Gijs van Haaften, Ann Nordgren, Helena Malmgren, Giedre Grigelioniené, Sascha Vermeer, Pedro Louro, Lina Ramos, Thomas J. J. Maal, Celeste C. van Heumen, Helger G. Yntema, Carine Carels, Tjitske Kleefstra

    出版 2014
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  10. 10
    Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia

    Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia 由 Sascha Vermeer, Alexander Hoischen, Rowdy Meijer, Christian Gilissen, Kornelia Neveling, Nienke Wieskamp, Arjan de Brouwer, Michel Kœnig, Mathieu Anheim, Mirna Assoum, Nathalie Drouot, S. Todorović, Vedrana Milić-Rašić, Hanns Lochmüller, Giovanni Stévanin, Cyril Goizet, Albert David, Alexandra Dürr, Alexis Brice, Berry Kremer, Bart P.C. van de Warrenburg, Mascha M.V.A.P. Schijvenaars, Angelien Heister, Michael Kwint, Peer Arts, Jenny van der Wijst, Joris A. Veltman, Erik‐Jan Kamsteeg, Hans Scheffer, Nine V.A.M. Knoers

    出版 2010
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  11. 11
    A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

    A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases 由 Kornelia Neveling, Ilse Feenstra, Christian Gilissen, Lies H. Hoefsloot, Erik‐Jan Kamsteeg, Arjen R. Mensenkamp, Richard J. Rodenburg, Helger G. Yntema, Liesbeth Spruijt, Sascha Vermeer, Tuula Rinne, Koen L.I. van Gassen, Daniëlle Bodmer, Dorien Lugtenberg, Rick de Reuver, Wendy Buijsman, Ronny Derks, Nienke Wieskamp, Bert van den Heuvel, Marjolijn J. L. Ligtenberg, Hannie Kremer, David A. Koolen, Bart P.C. van de Warrenburg, Frans P.M. Cremers, Carlo Marcelis, Jan Smeitink, Saskia B. Wortmann, Wendy A.G. van Zelst–Stams, Joris A. Veltman, Han G. Brunner, Hans Scheffer, Marcel Nelen

    出版 2013
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  12. 12
    Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia

    Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia 由 Janneke Schuurs-Hoeijmakers, Michael T. Geraghty, Erik‐Jan Kamsteeg, Salma Ben‐Salem, Susanne T. de Bot, Bonnie Nijhof, Ilse I.G.M. van de Vondervoort, Marinette van der Graaf, Anna Castells‐Nobau, Irene Otte‐Höller, Sascha Vermeer, Amanda Smith, Peter Humphreys, Jeremy Schwartzentruber, Bassam R. Ali, Saeed Al‐Yahyaee, Said Tariq, Thachillath Pramathan, Riad Bayoumi, H.P.H. Kremer, Bart P. van de Warrenburg, Willem M.R. van den Akker, Christian Gilissen, Joris A. Veltman, Irene M. Janssen, Anneke T. Vulto-van Silfhout, Saskia van der Velde-Visser, Dirk Lefeber, Adinda Diekstra, Corrie E. Erasmus, Michèl A.A.P. Willemsen, Lisenka E.L.M. Vissers, Martin Lammens, Hans van Bokhoven, Han G. Brunner, Ron A. Wevers, Annette Schenck, Lihadh Al‐Gazali, Bert B.A. de Vries, Arjan P.M. de Brouwer

    出版 2012
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  13. 13
    Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

    Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction 由 Janine Reurink, Nicole Weisschuh, Alejandro Garanto, Adrian Dockery, L. Ingeborgh van den Born, Isabelle Fajardy, Lonneke Haer‐Wigman, Susanne Kohl, Bernd Wissinger, G. Jane Farrar, Tamar Ben‐Yosef, Fatma Kivrak Pfiffner, Wolfgang Berger, Marianna E. Weener, Ľubica Ďuďáková, Petra Lišková, Dror Sharon, Manar Salameh, Ashley Offenheim, Elise Héon, Giorgia Girotto, Paolo Gasparini, Anna Morgan, Arthur A. Bergen, Jacoline B. ten Brink, Caroline C. W. Klaver, Lisbeth Tranebjærg, Nanna Dahl Rendtorff, Sascha Vermeer, Jeroen J. Smits, Ronald J. E. Pennings, Marco Aben, Jaap Oostrik, Galuh Astuti, Jordi Corominas Galbany, Hester Y. Kroes, Milan Phan, Wendy A.G. van Zelst–Stams, Alberta A. H. J. Thiadens, Joanne Verheij, Mary J. van Schooneveld, Suzanne E. de Bruijn, Catherina H. Z. Li, Carel B. Hoyng, Christian Gilissen, Lisenka E.L.M. Vissers, Frans P.M. Cremers, Hannie Kremer, Erwin van Wijk, Susanne Roosing

    出版 2023
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  14. 14
    Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

    Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling 由 Lot Snijders Blok, Erik Madsen, Jane Juusola, Christian Gilissen, Diana Baralle, Margot R.F. Reijnders, Hanka Venselaar, Céline Helsmoortel, Megan T. Cho, Alexander Hoischen, Lisenka E.L.M. Vissers, Tom S. Koemans, W.M. Wissink-Lindhout, Evan E. Eichler, Corrado Romano, Hilde Van Esch, Connie T. R. M. Stumpel, Maaike Vreeburg, Eric Smeets, Karin Oberndorff, Bregje W.M. van Bon, Marie Shaw, Jozef Gécz, Eric Haan, Melanie Bienek, Corinna Jensen, Bart Loeys, Anke Van Dijck, A. Micheil Innes, Hilary Racher, Sascha Vermeer, Nataliya Di Donato, Andreas Rump, Katrina Tatton‐Brown, Michael Parker, Alex Henderson, Sally Ann Lynch, Alan Fryer, Alison Ross, Pradeep Vasudevan, Usha Kini, Ruth Newbury‐Ecob, Kate Chandler, Alison Male, Sybe Dijkstra, Jolanda Schieving, Jacques C. Giltay, Koen L.I. van Gassen, Janneke Schuurs-Hoeijmakers, Perciliz L. Tan, Igor Pediaditakis, Stefan A. Haas, Kyle Retterer, Patrick Reed, Kristin G. Monaghan, Eden Haverfield, Marvin R. Natowicz, Angela Myers, Michael C. Kruer, Quinn Stein, Kevin A. Strauss, Karlla W. Brigatti, Katherine E. Keating, Barbara K. Burton, Katherine H. Kim, Joel Charrow, Jennifer Norman, Audrey Foster‐Barber, Antonie D. Kline, Amy Kimball, Elaine H. Zackai, Margaret Harr, Joyce E. Fox, Julie McLaughlin, Kristin Lindstrom, Katrina Haude, Kees van Roozendaal, Han G. Brunner, Wendy K. Chung, R. Frank Kooy, Rolph Pfundt, Vera M. Kalscheuer, Sarju Mehta, Nicholas Katsanis, Tjitske Kleefstra

    出版 2015
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