检索结果 - Suzanne C.E.H. Sallevelt

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  1. 1
    Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype

    Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype 由 Debby M.E.I. Hellebrekers, Suzanne C.E.H. Sallevelt, Tom E. J. Theunissen, Alexandra T.M. Hendrickx, Ralph W.H. Gottschalk, Janneke G. J. Hoeijmakers, Daphna D.J. Habets, Jörgen Bierau, Kees Schoonderwoerd, Hubert J.M. Smeets

    出版 2017
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  2. 2
    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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  3. 3
    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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  4. 4
    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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  5. 5
    Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

    Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck 由 Ian Wilson, Phillipa J. Carling, Charlotte L. Alston, Vasileios I. Floros, Angela Pyle, Gavin Hudson, Suzanne C.E.H. Sallevelt, Costanza Lamperti, Valério Carelli, Laurence A. Bindoff, David C. Samuels, Passorn Wonnapinij, Massimo Zeviani, Robert W. Taylor, Hubert J.M. Smeets, Rita Horváth, Patrick F. Chinnery

    出版 2016
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  6. 6
    Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

    Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause 由 Tom E. J. Theunissen, Minh Nguyen, Rick Kamps, Alexandra T.M. Hendrickx, Suzanne C.E.H. Sallevelt, Ralph W.H. Gottschalk, Chantal Calis, Alphons P. M. Stassen, Bart de Koning, Elvira N. M. Mulder-Den Hartog, Kees Schoonderwoerd, Sabine A. Fuchs, Yvonne Hilhorst‐Hofstee, Marjolein Visser, Jo Vanoevelen, Radek Szklarczyk, Mike Gerards, I.F.M. de Coo, Debby M.E.I. Hellebrekers, Hubert J.M. Smeets

    出版 2018
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  7. 7
    Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

    Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging 由 Chantal Deden, Kornelia Neveling, Dimitra Zafeiropopoulou, Christian Gilissen, Rolph Pfundt, Tuula Rinne, Nicole de Leeuw, Brigitte H. W. Faas, Thatjana Gardeitchik, Suzanne C.E.H. Sallevelt, Aimée Paulussen, Servi J.C. Stevens, Esther Sikkel, Mariet W. Elting, Merel C. van Maarle, Karin E. M. Diderich, Nicole Corsten‐Janssen, Klaske D. Lichtenbelt, Guus Lachmeijer, Lisenka E.L.M. Vissers, Helger G. Yntema, Marcel Nelen, Ilse Feenstra, Wendy A.G. van Zelst–Stams

    出版 2020
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  8. 8
    DDX3X-related neurodevelopmental disorder in males – presenting a new cohort of 19 males and a literature review

    DDX3X-related neurodevelopmental disorder in males – presenting a new cohort of 19 males and a literature review 由 Milou G. P. Kennis, Dmitrijs Rots, Arjan Bouman, Charlotte W. Ockeloen, Caroline Boelen, Carlo Marcelis, Bert B.A. de Vries, Mariet W. Elting, Quinten Waisfisz, Mohnish Suri, Esperanza Font–Montgomery, Dawn Peck, Deirdre E. Donnelly, R. Curtis Rogers, Ruth Richardson, Roseline Caumes, Boris Chaumette, Cécile Louveau, Suzanne C.E.H. Sallevelt, Saskia M. Maas, Jeroen J. Smits, Mieke M. van Haelst, Rebecca J. Levy, Helen Stewart, Bart Loeys, Rolph Pfundt, Tjitske Kleefstra, Lot Snijders Blok

    出版 2025
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    Revisão
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  9. 9
    Diagnostic exome sequencing in 266 Dutch patients with visual impairment

    Diagnostic exome sequencing in 266 Dutch patients with visual impairment 由 Lonneke Haer‐Wigman, Wendy AG van Zelst-Stams, Rolph Pfundt, L. Ingeborgh van den Born, Caroline C. W. Klaver, Joanne Verheij, Carel B. Hoyng, Martijn H. Breuning, Camiel J. F. Boon, Anneke J.A. Kievit, Virginie J. M. Verhoeven, Jan WR Pott, Suzanne C.E.H. Sallevelt, Johanna M. van Hagen, Astrid S. Plomp, Hester Y. Kroes, Stefan H. Lelieveld, Jayne Y. Hehir‐Kwa, Steven Castelein, Marcel Nelen, Hans Scheffer, Dorien Lugtenberg, Frans P.M. Cremers, Lies H. Hoefsloot, Helger G. Yntema

    出版 2017
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  10. 10
    The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

    The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome 由 Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Schrier Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Adila Al‐Kindy, Anwar Baban, Allan Bayat, Stefanie Beck‐Wödl, Katherine Berry, Emilia K. Bijlsma, Levinus A. Bok, Alwin F.J. Brouwer, Ineke van der Burgt, Philippe M. Campeau, Natalie Canham, Krystyńa Chrzańowska, Yoyo W. Y. Chu, Brain H.Y. Chung, Karin Dahan, Marjan De Rademaeker, Anne Destrèe, Tracy Dudding‐Byth, Rachel K. Earl, Nursel Elçioğlu, Ellen Roy Elias, Christina Fagerberg, Alice Gardham, Blanca Gener, Erica H. Gerkes, Ute Grasshoff, Arie van Haeringen, Karin R. Heitink, Johanna C. Herkert, Nicolette S. den Hollander, Denise Horn, David Hunt, Sarina G. Kant, Mitsuhiro Kato, Hülya Kayserili, Rogier Kersseboom, Esra KAYA KILIÇ, Małgorzata Krajewska‐Walasek, Kylin Lammers, Lone Walentin Laulund, Damien Lederer, Melissa Lees, Vanesa López‐González, Saskia M. Maas, Grazia M.S. Mancini, Carlo Marcelis, Francisco Martı́nez, Isabelle Maystadt, Marianne McGuire, Shane McKee, Sarju Mehta, Kay Metcalfe, Jeff M. Milunsky, Seiji Mizuno, John B. Moeschler, Christian Netzer, Charlotte W. Ockeloen, Barbara Oehl‐Jaschkowitz, Nobuhiko Okamoto, Sharon N.M. Olminkhof, Carmen Orellana, Laurent Pasquier, Caroline Pottinger, Vera Riehmer, Stephen P. Robertson, Maian Roifman, Caroline Rooryck, Fabienne G. Ropers, Mónica Roselló, Claudia Ruivenkamp, Mahmut Şamil Sağıroğlu, Suzanne C.E.H. Sallevelt, A. Sanchís Calvo, Pelin Özlem Şimşek‐Kiper, Gabriela Soares, Lucia Solaeche, Fatma Müjgan Sönmez, Miranda Splitt, Duco Steenbeek, Alexander P.A. Stegmann, Constance T. R. M. Stumpel, Saori Tanabe, Eyyüp Üçtepe, Gülen Eda Ütine, Hermine E. Veenstra‐Knol, Sunita Venkateswaran, Catheline Vilain, Catherine Vincent‐Delorme, Anneke T. Vulto‐van Silfhout, Patricia G. Wheeler, Golder N. Wilson, Louise C. Wilson, Bernd Wollnik, Tomoki Kosho, Dagmar Wieczorek

    出版 2018
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