Search Results - Anne Slavotinek

Anne Slavotinek

Anne Slavotinek (born 13 May 1963) is an Australian chess Woman International Master (1985), two-times Australian Women's Chess Championships winner (1982, 1984). Provided by Wikipedia
Refine Results
  1. 1
    Fryns syndrome: A review of the phenotype and diagnostic guidelines

    Fryns syndrome: A review of the phenotype and diagnostic guidelines by Anne Slavotinek

    Published 2003
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  2. 2
    Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes

    Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes by Anne Slavotinek

    Published 2002
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  3. 3
    Eye development genes and known syndromes

    Eye development genes and known syndromes by Anne Slavotinek

    Published 2011
    Get full text
    Revisão
    Save to List
    Saved in:
  4. 4
    Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome.

    Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome. by Anne Slavotinek, Lorraine Gaunt, Dian Donnai

    Published 1997
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  5. 5
    Mutation update of transcription factor genes<i>FOXE3</i>,<i>HSF4</i>,<i>MAF</i>, and<i>PITX3</i>causing cataracts and other developmental ocular defects

    Mutation update of transcription factor genes<i>FOXE3</i>,<i>HSF4</i>,<i>MAF</i>, and<i>PITX3</i>causing cataracts and other developmental ocular defects by Deepti Anand, Smriti A. Agrawal, Anne Slavotinek, Salil A. Lachke

    Published 2018
    Get full text
    Revisão
    Save to List
    Saved in:
  6. 6
    Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease

    Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease by Anne Slavotinek, Michelle L. Thompson, Lisa J. Martin, Bruce D. Gelb

    Published 2024
    Get full text
    Artigo
    Save to List
    Saved in:
  7. 7
    Pregnancy outcomes following exposure to onabotulinumtoxinA

    Pregnancy outcomes following exposure to onabotulinumtoxinA by Mitchell F. Brin, Russell S. Kirby, Anne Slavotinek, Mary Ann Miller‐Messana, Lori Parker, Irina Yushmanova, Huiying Yang

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  8. 8
    Perspectives of US private payers on insurance coverage for pediatric and prenatal exome sequencing: Results of a study from the Program in Prenatal and Pediatric Genomic Sequencing (P3EGS)

    Perspectives of US private payers on insurance coverage for pediatric and prenatal exome sequencing: Results of a study from the Program in Prenatal and Pediatric Genomic Sequencin... by Julia R. Trosman, Christine B. Weldon, Anne Slavotinek, Mary E. Norton, Michael P. Douglas, Kathryn A. Phillips

    Published 2019
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  9. 9
    Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1

    Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1 by Anne Slavotinek, S S Lee, Ronald W. Davis, A Shrit, Kathleen A. Leppig, Johng S. Rhim, Katherine M. Jasnosz, Donna G. Albertson, Daniel Pinkel

    Published 2005
    Get full text Get full text
    Carta
    Save to List
    Saved in:
  10. 10
    Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications

    Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications by W Feero, Robert D. Steiner, Anne Slavotinek, Tiago Faial, Michael J. Bamshad, Jehannine Austin, Bruce R. Korf, Annette Flanagin, Kirsten Bibbins‐Domingo

    Published 2024
    Get full text Get full text
    Editorial
    Save to List
    Saved in:
  11. 11
    CRB2 Mutations Produce a Phenotype Resembling Congenital Nephrosis, Finnish Type, with Cerebral Ventriculomegaly and Raised Alpha-Fetoprotein

    CRB2 Mutations Produce a Phenotype Resembling Congenital Nephrosis, Finnish Type, with Cerebral Ventriculomegaly and Raised Alpha-Fetoprotein by Anne Slavotinek, Julie Kaylor, Heather Pierce, Michelle Cahr, Stephanie J. DeWard, Dina Schneidman‐Duhovny, Adnan Alsadah, Fadi Salem, Gabriela Schmajuk, Lakshmi Mehta

    Published 2014
    Get full text
    Artigo
    Save to List
    Saved in:
  12. 12
    Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis

    Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis by Alex Choi, Richard Lao, Paul Ling-Fung Tang, Eunice Wan, Mayer Wasima, Tanya Bardakjian, Gary M. Shaw, Pui‐Yan Kwok, Adele Schneider, Anne Slavotinek

    Published 2014
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  13. 13
    Pregnancy Outcomes in Patients Exposed to OnabotulinumtoxinA Treatment

    Pregnancy Outcomes in Patients Exposed to OnabotulinumtoxinA Treatment by Mitchell F. Brin, Russell S. Kirby, Anne Slavotinek, Aubrey Manack Adams, Lori Parker, Ahunna Ukah, Lavinia Radulian, Monica R. P. Elmore, Larisa Yedigarova, Irina Yushmanova

    Published 2023
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  14. 14
    Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1–15q26.2

    Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1–15q26.2... by Anne Slavotinek, Ali Moshrefi, Randy Davis, Elizabeth A. Leeth, G Bradley Schaeffer, González Esteban Burchard, Gary M. Shaw, Bristow James, Louis J. Ptáček, L Pennacchio

    Published 2006
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  15. 15
    <i>VAX1</i>mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a<i>VAX1</i>phenotype in humans

    <i>VAX1</i>mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a<i>VAX1</i>phenotype in humans by Anne Slavotinek, Ryan Chao, Tomáš Vacı́k, Mani Yavi, Hana Abouzeid, Tanya Bardakjian, Adele Schneider, Gary M. Shaw, Elliott H. Sherr, Greg Lemke, Mohammed Youssef, Daniel F. Schorderet

    Published 2011
    Get full text
    Artigo
    Save to List
    Saved in:
  16. 16
    ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm

    ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm by Mani Yavi, Hana Abouzeid, Ghada Gawdat, Anne-Sophie de Preux, Tong Xiao, Tanya Bardakjian, Adele Schneider, Alex Choi, Eric Jorgenson, Herwig Baier, Mohamad El Sada, Daniel F. Schorderet, Anne Slavotinek

    Published 2013
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  17. 17
    Genetic ancestry and diagnostic yield of exome sequencing in a diverse population

    Genetic ancestry and diagnostic yield of exome sequencing in a diverse population by Yusuph Mavura, Nuriye Sahin‐Hodoglugil, Uğur Hodoğlugil, Mark Kvale, Pierre‐Marie Martin, Jessica Van Ziffle, W. Patrick Devine, Sara Ackerman, Barbara A. Koenig, Pui‐Yan Kwok, Mary E. Norton, Anne Slavotinek, Neil Risch

    Published 2024
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  18. 18
    Clinical features and management issues in Mowat–Wilson syndrome

    Clinical features and management issues in Mowat–Wilson syndrome by Margaret P Adam, Susan Schelley, Renata C. Gallagher, April N. Brady, Kimberly Barr, Bruce Blumberg, Joseph T.C. Shieh, John M. Graham, Anne Slavotinek, Madelena Martin, Kim M. Keppler‐Noreuil, Andrea L. Storm, Louanne Hudgins

    Published 2006
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  19. 19
    <i>DLX4</i>is associated with orofacial clefting and abnormal jaw development

    <i>DLX4</i>is associated with orofacial clefting and abnormal jaw development by Di Wu, Shyamali Mandal, Alex Choi, A. Anderson, Michaela Procházková, Hazel Perry, Vera Lúcia Gil‐da‐Silva‐Lopes, Richard Lao, Eunice Wan, Paul Ling-Fung Tang, Pui‐Yan Kwok, Ophir D. Klein, Zhuan Bian, Anne Slavotinek

    Published 2015
    Get full text
    Artigo
    Save to List
    Saved in:
  20. 20
    The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to <i>CHST14</i> mutations

    The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to <i>CHST14</i> mutations by Andreas Janecke, Ben Li, Manfred Boehm, Birgit Krabichler, Marianne Rohrbach, Thomas Müller, Irene Fuchs, Gretchen Golas, Yasuhiro Katagiri, Shira G. Ziegler, William A. Gahl, Yael Wilnai, Nicoletta Zoppi, Herbert M. Geller, Cecilia Giunta, Anne Slavotinek, Beat Steinmann

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: