检索结果 - Christine de Die‐Smulders

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  1. 1
    Age and causes of death in adult-onset myotonic dystrophy

    Age and causes of death in adult-onset myotonic dystrophy 由 Christine de Die‐Smulders

    出版 1998
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  2. 2
    Blurring boundaries. Interviews with PGT couples about comprehensive chromosome screening

    Blurring boundaries. Interviews with PGT couples about comprehensive chromosome screening 由 Kristien Hens, M Bonduelle, Christine de Die – Smulders, Inge Liebaers

    出版 2018
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  3. 3
    Arrays in postnatal and prenatal diagnosis: An exploration of the ethics of consent

    Arrays in postnatal and prenatal diagnosis: An exploration of the ethics of consent 由 Wybo Dondorp, Birgit Sikkema‐Raddatz, Christine de Die‐Smulders, Guido de Wert

    出版 2012
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  4. 4
    Reproductive options for prospective parents in families with Huntington's disease: clinical, psychological and ethical reflections

    Reproductive options for prospective parents in families with Huntington's disease: clinical, psychological and ethical reflections 由 Christine de Die‐Smulders, G.M.W.R. de Wert, I. Liebærs, Aad Tibben, Gerry Evers‐Kiebooms

    出版 2013
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  5. 5
    Non-invasive prenatal testing: ethical issues explored

    Non-invasive prenatal testing: ethical issues explored 由 Antina de Jong, Wybo Dondorp, Christine de Die‐Smulders, Suzanna G.M. Frints, Guido M. W. R. de Wert

    出版 2009
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  6. 6
    Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012

    Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012 由 Elke Mersy, Luc Smits, L.A.A.P. van Winden, Christine de Die‐Smulders, Aimée Paulussen, Merryn Macville, A. Coumans, Suzanna G.M. Frints

    出版 2013
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  7. 7
    Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography

    Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography 由 B.J.C. van den Bosch, I.F.M. de Coo, H.R. Scholte, Jeroen G. Nijland, R. van den Bogaard, Marjolein Visser, Christine de Die‐Smulders, H. J. M. Smeets

    出版 2000
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  8. 8
    Awareness and attitude regarding reproductive options of persons carrying a BRCA mutation and their partners

    Awareness and attitude regarding reproductive options of persons carrying a BRCA mutation and their partners 由 Joyce J. G. Gietel‐Habets, Christine de Die‐Smulders, I. A. P. Derks-Smeets, Aad Tibben, Vivianne C. G. Tjan‐Heijnen, R. van Golde, E. Gómez, C. Marleen Kets, Liesbeth van Osch

    出版 2016
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  9. 9
    Biallelic Inactivation of <i>BRCA2</i> in Fanconi Anemia

    Biallelic Inactivation of <i>BRCA2</i> in Fanconi Anemia 由 Niall G. Howlett, Toshiyasu Taniguchi, Susan B. Olson, Barbara Cox, Quinten Waisfisz, Christine de Die‐Smulders, Nicole S. Persky, Markus Grompe, Hans Joenje, Gerard Pals, Hideyuki Ikeda, Edward A. Fox, Alan D. D’Andrea

    出版 2002
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  10. 10
    Preimplantation Genetic Testing for Monogenic Kidney Disease

    Preimplantation Genetic Testing for Monogenic Kidney Disease 由 Rozemarijn Snoek, Marijn Stokman, Klaske D. Lichtenbelt, Theodora C van Tilborg, Cindy E. Simcox, Aimée Paulussen, Jos C.M.F. Dreesen, Franka van Reekum, A. Titia Lely, Nine Knoers, Christine de Die‐Smulders, Albertien M. van Eerde

    出版 2020
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  11. 11
    Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients

    Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patient... 由 Claudia Braida, Rhoda Stefanatos, Berit Adam, Navdeep Mahajan, H.J.M. Smeets, Florence Niel, Cyril Goizet, Benoı̂t Arveiler, Michel Kœnig, Clotilde Lagier‐Tourenne, Jean‐Louis Mandel, Catharina G. Faber, Christine de Die‐Smulders, Frank Spaans, Darren G. Monckton

    出版 2010
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  12. 12
    Mutation-specific effects in germline transmission of pathogenic mtDNA variants

    Mutation-specific effects in germline transmission of pathogenic mtDNA variants 由 Auke B.C. Otten, Suzanne C.E.H. Sallevelt, Phillippa J. Carling, J. Dreesen, Marion Drüsedau, Sabine Spierts, Aimée Paulussen, Christine de Die‐Smulders, Mary Herbert, Patrick F. Chinnery, David C. Samuels, Patrick Lindsey, Hubert J.M. Smeets

    出版 2018
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  13. 13
    Decision-making on preimplantation genetic diagnosis and prenatal diagnosis: a challenge for couples with hereditary breast and ovarian cancer

    Decision-making on preimplantation genetic diagnosis and prenatal diagnosis: a challenge for couples with hereditary breast and ovarian cancer 由 I. A. P. Derks-Smeets, Joyce J. G. Gietel‐Habets, Aad Tibben, Vivianne C. G. Tjan‐Heijnen, M. Meijer‐Hoogeveen, Joep Geraedts, R. van Golde, E. Gómez, Erika van den Bogaart, M. van Hooijdonk, Christine de Die‐Smulders, Liesbeth van Osch

    出版 2014
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  14. 14
    De novo mtDNA point mutations are common and have a low recurrence risk

    De novo mtDNA point mutations are common and have a low recurrence risk 由 Suzanne C.E.H. Sallevelt, Christine de Die‐Smulders, Alexandra T.M. Hendrickx, Debby M.E.I. Hellebrekers, I.F.M. de Coo, Charlotte L. Alston, Charlotte V. Y. Knowles, Robert W. Taylor, Robert McFarland, Hubert J.M. Smeets

    出版 2016
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  15. 15
    Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice

    Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice 由 Suzanne C.E.H. Sallevelt, Alexander P.A. Stegmann, Bart de Koning, Crool Velter, Anja Steyls, Melanie van Esch, Phillis Lakeman, Helger G. Yntema, Masoud Zamani Esteki, Christine de Die‐Smulders, Christian Gilissen, Arthur van den Wijngaard, Han G. Brunner, Aimée Paulussen

    出版 2021
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  16. 16
    The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly

    The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly 由 Luisa Nanni, Jeffrey E. Ming, Maureen Bocian, Kathryn A. Steinhaus, Diana W. Bianchi, Christine de Die‐Smulders, Aldo Giannotti, K Imaizumi, Kenneth Lyons Jones, Miguel Del Campo, R. A. Martin, P. Meinecke, Mary Ella Pierpont, Nathaniel H. Robin, I.D. Young, Erich Roessler, Maximilian Muenke

    出版 1999
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  17. 17
    Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3)

    Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p1... 由 André B. P. Kuilenburg, Judith Meijer, Adri N. Mul, Raoul C. M. Hennekam, J.M.N. Hoovers, Christine de Die‐Smulders, Christian Weber, Andrea Mori, Jörgen Bierau, Brian Fowler, Klaus Macke, Jörn Oliver Sass, Rutger Meinsma, Julia B. Hennermann, Peter Miny, Lida Zoetekouw, Raymon Vijzelaar, Joost Nicolai, Bauke Ylstra, M. Estela Rubio‐Gozalbo

    出版 2009
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  18. 18
    BRCA1 mutation carriers have a lower number of mature oocytes after ovarian stimulation for IVF/PGD

    BRCA1 mutation carriers have a lower number of mature oocytes after ovarian stimulation for IVF/PGD 由 I. A. P. Derks-Smeets, Theodora C van Tilborg, Aafke P.A. van Montfoort, Luc Smits, Helen L. Torrance, M. Meijer‐Hoogeveen, Frank J. Broekmans, Jos Dreesen, Aimée Paulussen, Vivianne C. G. Tjan‐Heijnen, Irene Homminga, Merel M.J. van den Berg, Margreet G.E.M. Ausems, Martine De Rycke, Christine de Die‐Smulders, Willem Verpoest, R. van Golde

    出版 2017
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  19. 19
    The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions

    The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions 由 Javier Simón‐Sánchez, Elise G.P. Dopper, Petra E. Cohn‐Hokke, Renate K. Hukema, Nayia Nicolaou, Harro Seelaar, J. Roos A. de Graaf, Inge de Koning, Natasja M. van Schoor, Dorly J. H. Deeg, Marion Smits, Joost Raaphorst, Leonard H. van den Berg, Helenius J. Schelhaas, Christine de Die‐Smulders, Daniëlle Majoor‐Krakauer, Annemieke J.M. Rozemüller, Rob Willemsen, Yolande A.L. Pijnenburg, Peter Heutink, John C. van Swieten

    出版 2012
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  20. 20
    KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

    KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia 由 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

    出版 2019
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