Hasil Pencarian - Benjamin M. Helm

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  1. 1
    Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome

    Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome oleh Benjamin M. Helm, Jason R. Willer, Azita Sadeghpour, Christelle Golzio, Eric Crouch, Samantha Schrier Vergano, Nicholas Katsanis, Erica E. Davis

    Diterbitkan 2017-07-01
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  2. 2
    Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling

    Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling oleh Margaret E. Armstrong, David D. Weaver, Melissa D. Lah, Gail H. Vance, Benjamin J. Landis, Stephanie M. Ware, Benjamin M. Helm

    Diterbitkan 2018-03-01
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  3. 3
    Learning to Crawl: Determining the Role of Genetic Abnormalities on Postoperative Outcomes in Congenital Heart Disease

    Learning to Crawl: Determining the Role of Genetic Abnormalities on Postoperative Outcomes in Congenital Heart Disease oleh Benjamin J. Landis, Benjamin M. Helm, Jeremy L. Herrmann, Madeline C. Hoover, Matthew D. Durbin, Lindsey R. Elmore, Manyan Huang, Michael Johansen, Ming Li, Leon F. Przybylowski, Gabrielle C. Geddes, Stephanie M. Ware

    Diterbitkan 2022-10-01
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  4. 4
    A multicenter cross-sectional study in infants with congenital heart defects demonstrates high diagnostic yield of genetic testing but variable evaluation practices

    A multicenter cross-sectional study in infants with congenital heart defects demonstrates high diagnostic yield of genetic testing but variable evaluation practices oleh Matthew D. Durbin, Lindsey R. Helvaty, Ming Li, William Border, Sara Fitzgerald-Butt, Vidu Garg, Gabrielle C. Geddes, Benjamin M. Helm, Seema R. Lalani, Kim L. McBride, Alexis McEntire, Dana K. Mitchell, Chaya N. Murali, Stephanie B. Wechsler, Benjamin J. Landis, Stephanie M. Ware

    Diterbitkan 2023-01-01
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  5. 5
    Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

    Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features oleh Morad Ansari, Kamli N.W. Faour, Akiko Shimamura, Graeme Grimes, Emeline M. Kao, Erica R. Denhoff, Ana Blatnik, Daniel Ben-Isvy, Lily Wang, Benjamin M. Helm, Helen Firth, Amy M. Breman, Emilia K. Bijlsma, Aiko Iwata-Otsubo, Thomy J.L. de Ravel, Vincent Fusaro, Alan Fryer, Keith Nykamp, Lara G. Stühn, Tobias B. Haack, G. Christoph Korenke, Panayiotis Constantinou, Kinga M. Bujakowska, Karen J. Low, Emily Place, Jennifer Humberson, Melanie P. Napier, Jessica Hoffman, Jane Juusola, Matthew A. Deardorff, Wanqing Shao, Shira Rockowitz, Ian Krantz, Maninder Kaur, Sarah Raible, Victoria Dortenzio, Sabine Kliesch, Moriel Singer-Berk, Emily Groopman, Stephanie DiTroia, Sonia Ballal, Siddharth Srivastava, Kathrin Rothfelder, Saskia Biskup, Jessica Rzasa, Jennifer Kerkhof, Haley McConkey, Bekim Sadikovic, Sarah Hilton, Siddharth Banka, Frank Tüttelmann, Donald F. Conrad, Anne O’Donnell-Luria, Michael E. Talkowski, David R. FitzPatrick, Philip M. Boone

    Diterbitkan 2024-04-01
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