Хайлтын үр дүнгүүд - Victoria Mok Siu

Үр дүнг сайжруулах
  1. 1
    Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey

    Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey -н Sarika Rohatgi, Dinah Clark, Antonie D. Kline, Laird G. Jackson, Juan Pié, Victoria Mok Siu, Feliciano J. Ramos, Ian D. Krantz, Matthew A. Deardorff

    Хэвлэсэн 2010
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    Artigo
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  2. 2
    Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting Disorders

    Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting Disorders -н Erfan Aref‐Eshghi, Laila C. Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, Victoria Mok Siu, David I. Rodenhiser, Charles E. Schwartz, Bekim Sadiković

    Хэвлэсэн 2017
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    Artigo
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  3. 3
    Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5

    Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5 -н Erik G. Puffenberger, Kevin A. Strauss, Keri Ramsey, David W. Craig, Dietrich Stephan, Donna L. Robinson, C. Hendrickson, Scott Gottlieb, David A. Ramsay, Victoria Mok Siu, Gregory G. Heuer, Peter B. Crino, D. Holmes Morton

    Хэвлэсэн 2007
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    Artigo
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  4. 4
    MECP2 Mutation Interrupts Nucleolin–mTOR–P70S6K Signaling in Rett Syndrome Patients

    MECP2 Mutation Interrupts Nucleolin–mTOR–P70S6K Signaling in Rett Syndrome Patients -н Carl O. Olson, Shervin Pejhan, Daniel Kroft, Kimia Sheikholeslami, David Fuss, Marjorie Buist, Annan Ali Sher, Marc R. Del Bigio, Yehezkel Sztainberg, Victoria Mok Siu, Lee Cyn Ang, Marianne Sabourin‐Félix, Tom Moss, Mojgan Rastegar

    Хэвлэсэн 2018
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    Artigo
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  5. 5
    A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems

    A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems -н Piya Lahiry, Jian Wang, John F. Robinson, Jacob P. Turowec, David W. Litchfield, Matthew B. Lanktree, Gregory B. Gloor, Erik G. Puffenberger, Kevin A. Strauss, Mildred Martens, David A. Ramsay, C. Anthony Rupar, Victoria Mok Siu, Robert A. Hegele

    Хэвлэсэн 2009
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  6. 6
    Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders

    Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders -н Justin O. Szot, Carla Campagnolo, Ye Cao, Kavitha R. Iyer, Hartmut Cuny, Thomas A. Drysdale, Josue Flores-Daboub, Weimin Bi, Lauren Westerfield, Pengfei Liu, Tse Ngong Leung, Kwong Wai Choy, Gavin Chapman, Rui Xiao, Victoria Mok Siu, Sally L. Dunwoodie

    Хэвлэсэн 2019
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    Artigo
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  7. 7
    Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation

    Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation -н Matthew A. Deardorff, Maninder Kaur, Dinah Yaeger, Abhinav Rampuria, Sergey Korolev, Juan Pié, Concepcion Gil-Rodríguez, María Arnedo, Bart Loeys, Antonie D. Kline, Meredith Wilson, K Lillquist, Victoria Mok Siu, Feliciano J. Ramos, Antonio Musio, Laird S. Jackson, Dale Dorsett, Ian D. Krantz

    Хэвлэсэн 2007
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  8. 8
    Exome Sequencing as a Diagnostic Tool for Pediatric‐Onset Ataxia

    Exome Sequencing as a Diagnostic Tool for Pediatric‐Onset Ataxia -н Sarah L. Sawyer, Jeremy Schwartzentruber, Chandree L. Beaulieu, David A. Dyment, Amanda Smith, Jodi Warman‐Chardon, Grace Yoon, Guy A. Rouleau, Oksana Suchowersky, Victoria Mok Siu, Lisa Murphy, Robert A. Hegele, Christian R. Marshall, Dennis E. Bulman, Jacek Majewski, Mark A. Tarnopolsky, Kym M. Boycott

    Хэвлэсэн 2013
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    Artigo
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  9. 9
    Elastin: mutational spectrum in supravalvular aortic stenosis

    Elastin: mutational spectrum in supravalvular aortic stenosis -н Kay Metcalfe, Agnes K Rucka, Leslie Smoot, Guenter Hofstadler, Gerald Tuzler, Pascal McKeown, Victoria Mok Siu, Anita Rauch, John Dean, N R Dennis, Ian O. Ellis, William Reardon, Cheryl Cytrynbaum, Lucy R. Osborne, John R.W. Yates, Andrew Read, Dian Donnai, Mayada Tassabehji

    Хэвлэсэн 2000
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  10. 10
    Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature

    Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature -н Andrea Ciolfi, Erfan Aref‐Eshghi, Simone Pizzi, Lucia Pedace, Evelina Miele, Jennifer Kerkhof, Elisabetta Flex, Simone Martinelli, Francesca Clementina Radio, Claudia Ruivenkamp, Gijs W.E. Santen, Emilia Bijlsma, Daniela Q.C.M. Barge‐Schaapveld, Katrin Õunap, Victoria Mok Siu, R. Frank Kooy, Bruno Dallapiccola, Bekim Sadiković, Marco Tartaglia

    Хэвлэсэн 2020
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  11. 11
    Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea

    Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea -н Peter Heinz‐Erian, Thomas Müller, Birgit Krabichler, Melanie Schranz, Christian Becker, Franz Rüschendorf, Peter Nürnberg, Bernard C. Rossier, Mihailo Vujic, I W Booth, Christer Holmberg, Cisca Wijmenga, Giedre Grigelioniené, C. M. F. Kneepkens, Štefan Rosipal, Martin Mistrík, Matthias Kappler, L. Michaud, Ludwig-Christoph Dóczy, Victoria Mok Siu, Marie Krantz, Heinz Zoller, Gerd Utermann, Andreas Janecke

    Хэвлэсэн 2009
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  12. 12
    A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

    A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome -н Machteld M. Oud, Carine Bonnard, Dorus A. Mans, Umut Altunoğlu, Sumanty Tohari, Alvin Yu Jin Ng, Ascia Eskin, Hane Lee, C. Anthony Rupar, Nathalie P. de Wagenaar, Ka Man Wu, Piya Lahiry, Gregory J. Pazour, Stanley F. Nelson, Robert A. Hegele, Ronald Roepman, Hülya Kayserili, Byrappa Venkatesh, Victoria Mok Siu, Bruno Reversade, Heleen H. Arts

    Хэвлэсэн 2016
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  13. 13
    Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements

    Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements -н Guy Froyen, Stefanie Belet, Francisco Martı́nez, Cíntia Barros Santos-Rebouças, Matthias Declercq, Jelle Verbeeck, Lene Donckers, Siren Berland, Sonia Mayo, Mónica Roselló, Márcia Mattos Gonçalves Pimentel, Natalia Fintelman‐Rodrigues, Randi Hovland, Suely Rodrigues dos Santos, F. Lucy Raymond, T T-Deformed d Bose, Mark Corbett, Leslie J. Sheffield, Conny M.A. van Ravenswaaij‐Arts, Trijnie Dijkhuizen, Charles Coutton, Véronique Satre, Victoria Mok Siu, Peter Marynen

    Хэвлэсэн 2012
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  14. 14
    Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome

    Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome -н François Bernier, Oana Caluseriu, Sarah Ng, Jeremy Schwartzentruber, Kati J. Buckingham, A. Micheil Innes, Ethylin Wang Jabs, Jeffrey W. Innis, Jane L. Schuette, Jerome L. Gorski, Peter H. Byers, Grégor Andelfinger, Victoria Mok Siu, Julie Lauzon, Bridget A. Fernandez, Margaret J. McMillin, Richard H. Scott, Hilary Racher, Jacek Majewski, Deborah A. Nickerson, Jay Shendure, Michael J. Bamshad, Jillian S. Parboosingh

    Хэвлэсэн 2012
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    Artigo
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  15. 15
    Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

    Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions -н Erfan Aref‐Eshghi, Eric G. Bend, Samantha Colaiacovo, Michelle Caudle, Rana Chakrabarti, Melanie Napier, Lauren Brick, Lauren Brady, Deanna Alexis Carere, Michael A. Levy, Jennifer Kerkhof, Alan Stuart, Maha Saleh, Arthur L. Beaudet, Chumei Li, Maryia Kozenko, Natalya Karp, Chitra Prasad, Victoria Mok Siu, Mark A. Tarnopolsky, Peter Ainsworth, Hanxin Lin, David I. Rodenhiser, Ian D. Krantz, Matthew A. Deardorff, Charles E. Schwartz, Bekim Sadiković

    Хэвлэсэн 2019
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    Artigo
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  16. 16
    BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes

    BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes -н Erfan Aref‐Eshghi, Eric G. Bend, Rebecca L. Hood, Laila C. Schenkel, Deanna Alexis Carere, Rana Chakrabarti, Sandesh C.S. Nagamani, Sau Wai Cheung, Philippe M. Campeau, Chitra Prasad, Victoria Mok Siu, Lauren Brady, Mark A. Tarnopolsky, David Callen, A. Micheil Innes, Susan M. White, Wendy S. Meschino, Andrew Y. Shuen, Guillaume Paré, Dennis E. Bulman, Peter Ainsworth, Hanxin Lin, David I. Rodenhiser, Raoul C. M. Hennekam, Kym M. Boycott, Charles E. Schwartz, Bekim Sadiković

    Хэвлэсэн 2018
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    Artigo
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  17. 17
    Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

    Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders -н Bekim Sadiković, Michael A. Levy, Jennifer Kerkhof, Erfan Aref‐Eshghi, Laila C. Schenkel, Alan Stuart, Haley McConkey, Peter Henneman, Andrea Venema, Charles E. Schwartz, Roger E. Stevenson, Steven A. Skinner, Barbara R. DuPont, Robin S. Fletcher, Tuğçe B. Balcı, Victoria Mok Siu, Jorge L. Granadillo, Jennefer Masters, Mike Kadour, Michael J. Friez, Mieke M. van Haelst, Marcel M.A.M. Mannens, Raymond J. Louie, Jennifer A. Lee, Matthew L. Tedder, Mariëlle Alders

    Хэвлэсэн 2021
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  18. 18
    Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

    Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression -н Chelsea Lowther, Marsha Speevak, Christine M. Armour, Elaine Goh, Gail E. Graham, Chumei Li, Susan Zeesman, Małgorzata J.M. Nowaczyk, Lee‐Anne Schultz, Antonella Morra, Rob Nicolson, Peter Bikangaga, Dawa Samdup, Mostafa Zaazou, Kerry Boyd, Jack H. Jung, Victoria Mok Siu, Manjulata Rajguru, Sharan Goobie, Mark A. Tarnopolsky, Chitra Prasad, Paul T. Dick, Asmaa S. Hussain, Margreet Walinga, Renske G. Reijenga, Matthew J. Gazzellone, Anath C. Lionel, Christian R. Marshall, Stephen W. Scherer, Dimitri J. Stavropoulos, M. Elizabeth McCready, Anne S. Bassett

    Хэвлэсэн 2016
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  19. 19
    De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

    De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome -н Jean‐Baptiste Rivière, Bregje W.M. van Bon, Alexander Hoischen, Stanislav S. Kholmanskikh, Brian J. O’Roak, Christian Gilissen, Sabine Gijsen, Christopher T. Sullivan, Susan L. Christian, Omar Abdul‐Rahman, Joan Atkin, Nicolas Chassaing, Valérie Drouin‐Garraud, Andrew E. Fry, Jean‐Pierre Fryns, Karen W. Gripp, Marlies Kempers, Tjitske Kleefstra, Grazia M.S. Mancini, Małgorzata J.M. Nowaczyk, Conny M.A. van Ravenswaaij‐Arts, Tony Roscioli, Michael Marble, Jill A. Rosenfeld, Victoria Mok Siu, Bert B.A. de Vries, Jay Shendure, Alain Verloès, Joris A. Veltman, Han G. Brunner, M. Elizabeth Ross, Daniela T. Pilz, William B. Dobyns

    Хэвлэсэн 2012
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    Artigo
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  20. 20
    HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

    HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle -н Matthew A. Deardorff, Masashige Bando, Ryuichiro Nakato, Erwan Watrin, Takehiko Itoh, Masashi Minamino, Katsuya Saitoh, Makiko Komata, Yuki Katou, Dinah Clark, Kathryn Cole, Elfride De Baere, Christophe Decroos, Nataliya Di Donato, Sarah Ernst, Lauren J. Francey, Yolanda Gyftodimou, Kyotaro Hirashima, Melanie Hullings, Yuuichi Ishikawa, Christian Jaulin, Maninder Kaur, Tohru Kiyono, Patrick M. Lombardi, Laura Magnaghi-Jaulin, Geert Mortier, Naohito Nozaki, Michael B. Petersen, Hiroyuki Seimiya, Victoria Mok Siu, Yutaka Suzuki, Kentaro Takagaki, Jonathan J. Wilde, Patrick J. Willems, Claude Prigent, Gabriele Gillessen‐Kaesbach, D.W. Christianson, Frank J. Kaiser, Laird G. Jackson, Toru Hirota, Ian D. Krantz, Katsuhiko Shirahige

    Хэвлэсэн 2012
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