Resultados de búsqueda - Daryl A. Scott

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  1. 1
    Human pendrin expressed in <i>Xenopus laevis</i> oocytes mediates chloride/formate exchange

    Human pendrin expressed in <i>Xenopus laevis</i> oocytes mediates chloride/formate exchange por Daryl A. Scott, Lawrence P. Karniski

    Publicado 2000
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  2. 2
    1p36 deletion syndrome: an update

    1p36 deletion syndrome: an update por Daryl A. Scott, Valerie K. Jordan, Hitsha Zaveri

    Publicado 2015
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  3. 3
    <i>Dusp6</i>(<i>Mkp3</i>) is a negative feedback regulator of FGF-stimulated ERK signaling during mouse development

    <i>Dusp6</i>(<i>Mkp3</i>) is a negative feedback regulator of FGF-stimulated ERK signaling during mouse development por Zesong Li, Daryl A. Scott, Ekaterina Hatch, Xiaoyan Tian, Suzanne L. Mansour

    Publicado 2006
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  4. 4
    A Pathologic Cascade Leading to Synaptic Dysfunction in -Synuclein-Induced Neurodegeneration

    A Pathologic Cascade Leading to Synaptic Dysfunction in -Synuclein-Induced Neurodegeneration por Daryl A. Scott, Iustin V. Tabarean, Yong Tang, Anna Cartier, Eliezer Masliah, Subhojit Roy

    Publicado 2010
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  5. 5
    Connexin mutations and hearing loss

    Connexin mutations and hearing loss por Daryl A. Scott, Michelle L. Kraft, Edwin M. Stone, Val C. Sheffield, Richard J. Smith

    Publicado 1998
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  6. 6
    Genetic Factors in Congenital Diaphragmatic Hernia

    Genetic Factors in Congenital Diaphragmatic Hernia por Ashley M. Holder, Merel Klaassens, Dick Tibboel, Annelies de Klein, B. Lee, Daryl A. Scott

    Publicado 2007
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  7. 7
    A 1q42 deletion involving <i>DISC1</i>, <i>DISC2</i>, and <i>TSNAX</i> in an autism spectrum disorder

    A 1q42 deletion involving <i>DISC1</i>, <i>DISC2</i>, and <i>TSNAX</i> in an autism spectrum disorder por Jaime M. Williams, T. Beck, David Pearson, Monica B. Proud, Sau Wai Cheung, Daryl A. Scott

    Publicado 2009
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  8. 8
    Stromal <i>Fat4</i> acts non-autonomously with <i>Dachsous1/2</i> to restrict the nephron progenitor pool

    Stromal <i>Fat4</i> acts non-autonomously with <i>Dachsous1/2</i> to restrict the nephron progenitor pool por Mazdak Bagherie-Lachidan, Antoine Reginensi, Hitisha P. Zaveri, Daryl A. Scott, Françoise Helmbacher, Helen McNeill

    Publicado 2015
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  9. 9
    Clinical geneticists' views of VACTERL/VATER association

    Clinical geneticists' views of VACTERL/VATER association por Benjamin D. Solomon, Kelly Bear, Virginia Kimonis, Annelies de Klein, Daryl A. Scott, Charles Shaw‐Smith, Dick Tibboel, Heiko Reutter, Philip F. Giampietro

    Publicado 2012
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  10. 10
    Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia

    Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia por Daryl A. Scott, Merel Klaassens, Ashley M. Holder, Kevin P. Lally, Caraciolo J. Fernandes, Robert‐Jan Galjaard, Dick Tibboel, Annelies de Klein, Brendan Lee

    Publicado 2007
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  11. 11
    Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4)

    Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4) por Daryl A. Scott, R Wang, Trisha Kreman, Mike Andrews, Jackie McDonald, Jeffrey R. Bishop, Richard J. Smith, Lawrence P. Karniski, Val C. Sheffield

    Publicado 2000
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  12. 12
    American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

    American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss por Raye Lynn Alford, Kathleen S. Arnos, Michelle Fox, Jerry Lin, Christina G.S. Palmer, Arti Pandya, Heidi L. Rehm, Nathaniel H. Robin, Daryl A. Scott, Christine Yoshinaga‐Itano

    Publicado 2014
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  13. 13
    Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint

    Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint por Roxanne Y. Walder, Hadar Shalev, Theresa Brennan, Rivka Carmi, Khalil Elbedour, Daryl A. Scott, André Hanauer, Allyn L. Mark, S. Patil, Edwin M. Stone, Val C. Sheffield

    Publicado 1997
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  14. 14
    Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes

    Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes por Tara N. Yankee, Sungryong Oh, Emma Wentworth Winchester, Andrea Wilderman, Kelsey Robinson, Tia Gordon, Jill A. Rosenfeld, Jennifer VanOudenhove, Daryl A. Scott, Elizabeth J. Leslie, Justin Cotney

    Publicado 2023
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  15. 15
    Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia

    Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia por Margaret Wat, Oleg A. Shchelochkov, Ashley M. Holder, Amy M. Breman, Aditi I Dagli, Carlos A. Bacino, Fernando Scaglia, Roberto T. Zori, Sau Wai Cheung, Daryl A. Scott, Sung‐Hae Kang

    Publicado 2009
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  16. 16
    Review of the phenotypic spectrum associated with haploinsufficiency of <i>MYRF</i>

    Review of the phenotypic spectrum associated with haploinsufficiency of <i>MYRF</i> por Linda Rossetti, Kevin E. Glinton, Bo Yuan, Pengfei Liu, Nishitha R. Pillai, Elizabeth Mizerik, Pilar Magoulas, Jill A. Rosenfeld, Lefkothea Karaviti, V. Reid Sutton, Seema R. Lalani, Daryl A. Scott

    Publicado 2019
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  17. 17
    An Allelic Series of Mice Reveals a Role for RERE in the Development of Multiple Organs Affected in Chromosome 1p36 Deletions

    An Allelic Series of Mice Reveals a Role for RERE in the Development of Multiple Organs Affected in Chromosome 1p36 Deletions por Bum‐Joon Kim, Hitisha P. Zaveri, Oleg A. Shchelochkov, Zhiyin Yu, Andrés Hernández, Michelle L. Seymour, John S. Oghalai, Fred A. Pereira, David W. Stockton, Monica J. Justice, Brendan Lee, Daryl A. Scott

    Publicado 2013
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  18. 18
    Performance of cochlear implant recipients with <i>GJB2</i>‐related deafness

    Performance of cochlear implant recipients with <i>GJB2</i>‐related deafness por Glenn E. Green, Daryl A. Scott, J. Matthew McDonald, Holly F. B. Teagle, Bruce J. Tomblin, Linda Spencer, George Woodworth, John F. Knutson, Bruce J. Gantz, Val C. Sheffield, Richard J. Smith

    Publicado 2002
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  19. 19
    Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36

    Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36 por Hitisha P. Zaveri, T. Beck, Andrés Hernández, Katharine E. Shelly, Tara Montgomery, Arie van Haeringen, Britt-Marie Anderlid, Chirag Patel, Himanshu Goel, Gunnar Houge, Bernice E. Morrow, Sau Wai Cheung, Seema R. Lalani, Daryl A. Scott

    Publicado 2014
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  20. 20
    Severe mental retardation, seizures, and hypotonia due to deletions of <i>MEF2C</i>

    Severe mental retardation, seizures, and hypotonia due to deletions of <i>MEF2C</i> por Beata Nowakowska, Ewa Obersztyn, Krystyna Szymańska, Monika Bekiesińska‐Figatowska, Zhilian Xia, Christian B. Ricks, Ewa Bocian, David W. Stockton, Krzysztof Szczałuba, Magdalena Nawara, Ankita Patel, Daryl A. Scott, Sau Wai Cheung, Timothy P. Bohan, Paweł Stankiewicz

    Publicado 2010
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