Arama Sonuçları - Emmelien Aten

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  1. 1
    High-Resolution Melting Analysis (HRMA)-More than just sequence variant screening

    High-Resolution Melting Analysis (HRMA)-More than just sequence variant screening Yazar: Rolf H. A. M. Vossen, Emmelien Aten, Anja Roos, Johan T. den Dunnen

    Baskı/Yayın Bilgisi 2009
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  2. 2
    From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care

    From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care Yazar: Maayke A. de Koning, Monique C. Haak, P. N. Adama van Scheltema, Cacha Peeters‐Scholte, Tamara T. Koopmann, Esther Nibbeling, Emmelien Aten, Nicolette S. den Hollander, Claudia Ruivenkamp, Mariëtte J.V. Hoffer, Gijs W.E. Santen

    Baskı/Yayın Bilgisi 2019
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  3. 3
    Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene

    Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene Yazar: Yu Sun, Rowida Almomani, Emmelien Aten, Jacopo Celli, Jaap van der Heijden, Hanka Venselaar, Stephen P. Robertson, Anna Baroncini, Brunella Franco, Lina Basel‐Vanagaite, Emiko Horii, Ricardo Drut, Yavuz Ariyürek, Johan T. den Dunnen, Martijn H. Breuning

    Baskı/Yayın Bilgisi 2010
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  4. 4
    Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2

    Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2 Yazar: Emmelien Aten, Lisa C. Brasz, Dorothea Bornholdt, Ingeborg B. Hooijkaas, Mary Porteous, Virginia P. Sybert, Maarten H. Vermeer, Rolf H. A. M. Vossen, Michiel J.R. van der Wielen, Egbert Bakker, M.H. Breuning, Karl‐Heinz Grzeschik, Jan C. Oosterwijk, Johan T. den Dunnen

    Baskı/Yayın Bilgisi 2010
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  5. 5
    The prevalence of genetic diagnoses in fetuses with severe congenital heart defects

    The prevalence of genetic diagnoses in fetuses with severe congenital heart defects Yazar: A. van Nisselrooij, Malou A. Lugthart, Sally‐Ann B. Clur, Ingeborg H. Linskens, Eva Pajkrt, Lukas Rammeloo, Lieke Rozendaal, Nico A. Blom, J. M. M. van Lith, Alida C. Knegt, Mariëtte J.V. Hoffer, Emmelien Aten, Gijs W.E. Santen, Monique C. Haak

    Baskı/Yayın Bilgisi 2020
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  6. 6
    Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in<i>TPP1</i>, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease)

    Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in<i>TPP1</i>, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2... Yazar: Yu Sun, Rowida Almomani, Guido J. Breedveld, Gijs W.E. Santen, Emmelien Aten, Dirk J. Lefeber, Jorrit I. Hoff, Esther Brusse, Frans W. Verheijen, Robert M. Verdijk, Marjolein Kriek, Ben A. Oostra, Martijn H. Breuning, Monique Losekoot, Johan T. den Dunnen, Bart P. van de Warrenburg, Anneke Maat‐Kievit

    Baskı/Yayın Bilgisi 2013
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  7. 7
    <i>Lamin A/C</i> -Related Cardiac Disease

    <i>Lamin A/C</i> -Related Cardiac Disease Yazar: Edgar T. Hoorntje, Ilse A. E. Bollen, Daniela Q.C.M. Barge‐Schaapveld, Florence H. van Tienen, Gerard J. te Meerman, Joeri A. Jansweijer, Anthonie J. van Essen, Paul G.A. Volders, Alina A. Constantinescu, Peter C. van den Akker, Karin Y. van Spaendonck‐Zwarts, Rogier A. Oldenburg, Carlo Marcelis, Jasper J. van der Smagt, Eric A. M. Hennekam, Aryan Vink, Marianne Bootsma, Emmelien Aten, Arthur A.M. Wilde, Arthur van den Wijngaard, Jos L. V. Broers, Jan D.H. Jongbloed, Jolanda van der Velden, Maarten P. van den Berg, J. Peter van Tintelen

    Baskı/Yayın Bilgisi 2017
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  8. 8
    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 Yazar: 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

    Baskı/Yayın Bilgisi 2016
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  9. 9
    Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

    Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases Yazar: Holly A.F. Stessman, Bo Xiong, Bradley P. Coe, Tianyun Wang, Kendra Hoekzema, Michaela Fencková, Malin Kvarnung, Jennifer Gerdts, Sandy Trinh, Nele Cosemans, Laura Vives, Janice Lin, Tychele N. Turner, Gijs W.E. Santen, Claudia Ruivenkamp, Marjolein Kriek, Arie van Haeringen, Emmelien Aten, Kathryn Friend, Jan Liebelt, Christopher Barnett, Eric Haan, Marie Shaw, Jozef Gécz, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Charles E. Schwartz, R. Frank Kooy, Geert Vandeweyer, Céline Helsmoortel, Corrado Romano, A Alberti, Mirella Vinci, Emanuela Avola, Stefania Giusto, Eric Courchesne, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, David G. Amaral, Ingrid E. Scheffer, Martin B. Delatycki, Paul J. Lockhart, Fereydoun Hormozdiari, Benjamin Harich, Anna Castells‐Nobau, Kun Xia, Hilde Peeters, Magnus Nordenskjöld, Annette Schenck, Raphael Bernier, Evan E. Eichler

    Baskı/Yayın Bilgisi 2017
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  10. 10
    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 Yazar: 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

    Baskı/Yayın Bilgisi 2013
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  11. 11
    The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

    The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder Yazar: Dmitrijs Rots, Taryn E. Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Rolph Pfundt, Bert B.A. de Vries, Richard H. van Jaarsveld, Saskia Hopman, Ellen van Binsbergen, Irene Valenzuela, Maja Hempel, Tatjana Bierhals, Fanny Kortüm, François Lecoquierre, Alice Goldenberg, Jens Michael Hertz, Charlotte Brasch Andersen, Maria Kibæk, Eloise J. Prijoles, Roger E. Stevenson, David B. Everman, Wesley G. Patterson, Linyan Meng, Charul Gijavanekar, Karl De Dios, Shenela Lakhani, Tess Levy, Matias Wagner, Dagmar Wieczorek, Paul J. Benke, María Soledad Lopez Garcia, Renée Perrier, Sérgio B. Sousa, Pedro Almeida, Maria José Simões, Bertrand Isidor, Wallid Deb, Andrew A. Schmanski, Omar Abdul‐Rahman, Christophe Philippe, Ange‐Line Bruel, Laurence Faivre, Antonio Vitobello, Christel Thauvin, Jeroen J. Smits, Livia Garavelli, Stefano Giuseppe Caraffi, Francesca Peluso, Laura Davis‐Keppen, Dylan Platt, Erin Royer, Lisette Leeuwen, Margje Sinnema, Alexander P.A. Stegmann, Constance T. R. M. Stumpel, George E. Tiller, Daniëlle G.M. Bosch, Stephanus T. Potgieter, Shelagh Joss, Miranda Splitt, Simon Holden, Matina Prapa, Nicola Foulds, Sofia Douzgou, Kaija Puura, Regina Waltes, Andreas G. Chiocchetti, Christine M. Freitag, F. Kyle Satterstrom, Silvia De Rubeis, Joseph D. Buxbaum, Bruce D. Gelb, Branko Aleksić, Itaru Kushima, Jennifer Howe, Stephen W. Scherer, Alessia Arado, Chiara Baldo, Olivier Patat, Demeer Bénédicte, Diego Lopergolo, Filippo M. Santorelli, Tobias B. Haack, Andreas Dufke, Miriam Bertrand, Ruth Falb, Angelika Rieß, Peter Krieg, Stephanie Spranger, Maria Francesca Bedeschi, Maria Iascone, Sarah Josephi‐Taylor, Tony Roscioli, Michael F. Buckley, Jan Liebelt, Aditi I Dagli, Emmelien Aten, Anna Hurst, Alesha Hicks

    Baskı/Yayın Bilgisi 2023
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