Resultats de la cerca - Anne Slavotinek

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  1. 1
    Fryns syndrome: A review of the phenotype and diagnostic guidelines

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

    Publicat 2003
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  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 per Anne Slavotinek

    Publicat 2002
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  3. 3
    Eye development genes and known syndromes

    Eye development genes and known syndromes per Anne Slavotinek

    Publicat 2011
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  4. 4
    Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome.

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

    Publicat 1997
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  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 per Deepti Anand, Smriti A. Agrawal, Anne Slavotinek, Salil A. Lachke

    Publicat 2018
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  6. 6
    Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease

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

    Publicat 2024
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  7. 7
    Pregnancy outcomes following exposure to onabotulinumtoxinA

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

    Publicat 2015
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  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... per Julia R. Trosman, Christine B. Weldon, Anne Slavotinek, Mary E. Norton, Michael P. Douglas, Kathryn A. Phillips

    Publicat 2019
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  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 per Anne Slavotinek, S S Lee, Ronald W. Davis, A Shrit, Kathleen A. Leppig, Johng S. Rhim, Katherine M. Jasnosz, Donna G. Albertson, Daniel Pinkel

    Publicat 2005
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  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 per W Feero, Robert D. Steiner, Anne Slavotinek, Tiago Faial, Michael J. Bamshad, Jehannine Austin, Bruce R. Korf, Annette Flanagin, Kirsten Bibbins‐Domingo

    Publicat 2024
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  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 per Anne Slavotinek, Julie Kaylor, Heather Pierce, Michelle Cahr, Stephanie J. DeWard, Dina Schneidman‐Duhovny, Adnan Alsadah, Fadi Salem, Gabriela Schmajuk, Lakshmi Mehta

    Publicat 2014
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  12. 12
    Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis

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

    Publicat 2014
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  13. 13
    Pregnancy Outcomes in Patients Exposed to OnabotulinumtoxinA Treatment

    Pregnancy Outcomes in Patients Exposed to OnabotulinumtoxinA Treatment per 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

    Publicat 2023
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  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... per 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

    Publicat 2006
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  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 per 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

    Publicat 2011
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  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 per 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

    Publicat 2013
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  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 per 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

    Publicat 2024
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  18. 18
    Clinical features and management issues in Mowat–Wilson syndrome

    Clinical features and management issues in Mowat–Wilson syndrome per 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

    Publicat 2006
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  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 per 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

    Publicat 2015
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  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 per 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

    Publicat 2015
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