Ohcanbohtosat - Medne, Livija

Aiddostahte ozu
  1. 1
    Early Onset Mandibuloacral Dysplasia due to Compound Heterozygous Mutations in ZMPSTE24

    Early Onset Mandibuloacral Dysplasia due to Compound Heterozygous Mutations in ZMPSTE24 Dahkki Ahmad, Zahid, Zackai, Elaine, Medne, Livija, Garg, Abhimanyu

    Almmustuhtton 2010
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  2. 2
    An Individual with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) and Additional Features Expands the Phenotype Associated with Mutations in KAT6B

    An Individual with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) and Additional Features Expands the Phenotype Associated with Mutations in KAT6B Dahkki Yu, Hung-Chun, Geiger, Elizabeth A., Medne, Livija, Zackai, Elaine H., Shaikh, Tamim H.

    Almmustuhtton 2014
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  3. 3
    Becker Muscular Dystrophy Due to an Inversion of Exons 23 and 24 of the DMD Gene

    Becker Muscular Dystrophy Due to an Inversion of Exons 23 and 24 of the DMD Gene Dahkki Flanigan, Kevin M., Dunn, Diane, Larsen, C. Aaron, Medne, Livija, Bönnemann, Carsten B., Weiss, Robert B.

    Almmustuhtton 2011
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  4. 4
    Variants in NAA15 cause pediatric hypertrophic cardiomyopathy

    Variants in NAA15 cause pediatric hypertrophic cardiomyopathy Dahkki Ritter, Alyssa, Berger, Justin H., Deardorff, Matthew, Izumi, Kosuke, Lin, Kimberly Y., Medne, Livija, Ahrens-Nicklas, Rebecca C.

    Almmustuhtton 2020
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  5. 5
    A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies

    A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies Dahkki Gotter, Anthony L., Nimmakayalu, Manjunath A., Jalali, G. Reza, Hacker, April M., Vorstman, Jacob, Conforto Duffy, Danielle, Medne, Livija, Emanuel, Beverly S.

    Almmustuhtton 2007
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  6. 6
    PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care

    PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care Dahkki Havrilla, James M., Singaravelu, Anbumalar, Driscoll, Dennis M., Minkovsky, Leonard, Helbig, Ingo, Medne, Livija, Wang, Kai, Krantz, Ian, Desai, Bimal R.

    Almmustuhtton 2022
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  7. 7
    Paternal origin of the de novo constitutional t(11;22)(q23;q11)

    Paternal origin of the de novo constitutional t(11;22)(q23;q11) Dahkki Ohye, Tamae, Inagaki, Hidehito, Kogo, Hiroshi, Tsutsumi, Makiko, Kato, Takema, Tong, Maoqing, Macville, Merryn V E, Medne, Livija, Zackai, Elaine H, Emanuel, Beverly S, Kurahashi, Hiroki

    Almmustuhtton 2010
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  8. 8
    SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss

    SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss Dahkki Buchert, Rebecca, Nesbitt, Addie I., Tawamie, Hasan, Krantz, Ian D., Medne, Livija, Helbig, Ingo, Matalon, Dena R., Reis, André, Santani, Avni, Sticht, Heinrich, Abou Jamra, Rami

    Almmustuhtton 2016
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  9. 9
    Ciliopathies: Coloring outside of the lines

    Ciliopathies: Coloring outside of the lines Dahkki Strong, Alanna, Li, Dong, Mentch, Frank, Bedoukian, Emma, Hartung, Erum A., Meyers, Kevin, Skraban, Cara, Wen, Jessica, Medne, Livija, Glessner, Joseph, Watson, Deborah, Krantz, Ian, Hakonarson, Hakon

    Almmustuhtton 2020
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  10. 10
    Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

    Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis Dahkki Conlin, Laura K., Thiel, Brian D., Bonnemann, Carsten G., Medne, Livija, Ernst, Linda M., Zackai, Elaine H., Deardorff, Matthew A., Krantz, Ian D., Hakonarson, Hakon, Spinner, Nancy B.

    Almmustuhtton 2010
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  11. 11
    Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature

    Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature Dahkki Mirzaa, Ghayda M., Enyedi, Laura, Parsons, Gretchen, Collins, Sarah, Medne, Livija, Adams, Carissa, Ward, Thomas, Davitt, Bradley, Bicknese, Alma, Zackai, Elaine, Toriello, Helga, Dobyns, William B., Christian, Susan

    Almmustuhtton 2014
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  12. 12
    Severe congenital RYR1-associated myopathy: The expanding clinicopathologic and genetic spectrum

    Severe congenital RYR1-associated myopathy: The expanding clinicopathologic and genetic spectrum Dahkki Bharucha-Goebel, Diana Xerxes, Santi, Mariarita, Medne, Līvija, Zukosky, Kristin, Dastgir, Jahannaz, Shieh, Perry B., Winder, Thomas, Tennekoon, Gihan, Finkel, Richard S., Dowling, James J., Monnier, Nicole, Bönnemann, Carsten G.

    Almmustuhtton 2013
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  13. 13
    Mutations in SCN3A cause early infantile epileptic encephalopathy

    Mutations in SCN3A cause early infantile epileptic encephalopathy Dahkki Zaman, Tariq, Helbig, Ingo, Božović, Ivana Babić, DeBrosse, Suzanne D., Bergqvist, A. Christina, Wallis, Kimberly, Medne, Livija, Maver, Aleš, Peterlin, Borut, Helbig, Katherine L., Zhang, Xiaohong, Goldberg, Ethan M.

    Almmustuhtton 2018
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  14. 14
    Clinical Utility of Exome Sequencing in Infantile Heart Failure

    Clinical Utility of Exome Sequencing in Infantile Heart Failure Dahkki Ritter, Alyssa, Bedoukian, Emma, Berger, Justin H., Copenheaver, Deborah, Gray, Christopher, Krantz, Ian, Izumi, Kosuke, Juusola, Jane, Leonard, Jacqueline, Lin, Kimberly, Medne, Livija, Santani, Avni, Skraban, Cara, Yang, Sandra, Ahrens-Nicklas, Rebecca C.

    Almmustuhtton 2019
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  15. 15
    Genotype-phenotype correlations in recessive RYR1-related myopathies

    Genotype-phenotype correlations in recessive RYR1-related myopathies Dahkki Amburgey, Kimberly, Bailey, Angela, Hwang, Jean H, Tarnopolsky, Mark A, Bonnemann, Carsten G, Medne, Livija, Mathews, Katherine D, Collins, James, Daube, Jasper R, Wellman, Gregory P, Callaghan, Brian, Clarke, Nigel F, Dowling, James J

    Almmustuhtton 2013
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  16. 16
    Large Genomic Deletions: a Novel Cause of Ullrich Congenital Muscular Dystrophy

    Large Genomic Deletions: a Novel Cause of Ullrich Congenital Muscular Dystrophy Dahkki Foley, A. Reghan, Hu, Ying, Zou, Yaqun, Yang, Michele, Medne, Līvija, Leach, Meganne, Conlin, Laura K., Spinner, Nancy, Shaikh, Tamim H., Falk, Marni, Neumeyer, Ann M., Bliss, Laurie, Tseng, Brian S., Winder, Thomas L., Bönnemann, Carsten G.

    Almmustuhtton 2011
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  17. 17
    Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum

    Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum Dahkki Boland, Elena , Clayton-Smith, Jill , Woo, Victoria G. , McKee, Shane , Manson, Forbes D. C. , Medne, Livija , Zackai, Elaine , Swanson, Eric A. , Fitzpatrick, David , Millen, Kathleen J. , Sherr, Elliott H. , Dobyns, William B. , Black, Graeme C. M. 

    Almmustuhtton 2007
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  18. 18
    DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker Muscular Dystrophy

    DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker Muscular Dystrophy Dahkki Flanigan, Kevin M., Dunn, Diane M., von Niederhausern, Andrew, Howard, Michael T., Mendell, Jerry, Connolly, Anne, Saunders, Carol, Modrcin, Ann, Dasouki, Majed, Comi, Giacomo P., Bo, Roberto Del, Pickart, Angela, Jacobson, Richard, Finkel, Richard, Medne, Livija, Weiss, Robert B.

    Almmustuhtton 2009
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  19. 19
    De novo PMP2 mutations in families with type 1 Charcot–Marie–Tooth disease

    De novo PMP2 mutations in families with type 1 Charcot–Marie–Tooth disease Dahkki Motley, William W., Palaima, Paulius, Yum, Sabrina W., Gonzalez, Michael A., Tao, Feifei, Wanschitz, Julia V., Strickland, Alleene V., Löscher, Wolfgang N., De Vriendt, Els, Koppi, Stefan, Medne, Livija, Janecke, Andreas R., Jordanova, Albena, Zuchner, Stephan, Scherer, Steven S.

    Almmustuhtton 2016
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  20. 20
    CDKL5 and ARX mutations in males with early-onset epilepsy

    CDKL5 and ARX mutations in males with early-onset epilepsy Dahkki Mirzaa, Ghayda M., Paciorkowski, Alex R., Marsh, Eric D., Berry-Kravis, Elizabeth M., Medne, Livija, Grix, Art, Wirrell, Elaine C., Powell, Berkley R., Nickels, Katherine C., Burton, Barbara, Paras, Andrea, Kim, Katherine, Chung, Wendy, Dobyns, William B., Das, Soma

    Almmustuhtton 2013
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