检索结果 - 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 由 Daryl A. Scott, Lawrence P. Karniski

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

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

    出版 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 由 Zesong Li, Daryl A. Scott, Ekaterina Hatch, Xiaoyan Tian, Suzanne L. Mansour

    出版 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 由 Daryl A. Scott, Iustin V. Tabarean, Yong Tang, Anna Cartier, Eliezer Masliah, Subhojit Roy

    出版 2010
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  5. 5
    Connexin mutations and hearing loss

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

    出版 1998
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  6. 6
    Genetic Factors in Congenital Diaphragmatic Hernia

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

    出版 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 由 Jaime M. Williams, T. Beck, David Pearson, Monica B. Proud, Sau Wai Cheung, Daryl A. Scott

    出版 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 由 Mazdak Bagherie-Lachidan, Antoine Reginensi, Hitisha P. Zaveri, Daryl A. Scott, Françoise Helmbacher, Helen McNeill

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

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

    出版 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 由 Daryl A. Scott, Merel Klaassens, Ashley M. Holder, Kevin P. Lally, Caraciolo J. Fernandes, Robert‐Jan Galjaard, Dick Tibboel, Annelies de Klein, Brendan Lee

    出版 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) 由 Daryl A. Scott, R Wang, Trisha Kreman, Mike Andrews, Jackie McDonald, Jeffrey R. Bishop, Richard J. Smith, Lawrence P. Karniski, Val C. Sheffield

    出版 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 由 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

    出版 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 由 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

    出版 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 由 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

    出版 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 由 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

    出版 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> 由 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

    出版 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 由 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

    出版 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 由 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

    出版 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 由 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

    出版 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> 由 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

    出版 2010
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