檢索結果 - Kit Sing Au

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  1. 1
    Genetics, genomics, and genotype–phenotype correlations of TSC: Insights for clinical practice

    Genetics, genomics, and genotype–phenotype correlations of TSC: Insights for clinical practice 由 Angela Peron, Kit Sing Au, Hope Northrup

    出版 2018
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  2. 2
    Epidemiologic and genetic aspects of spina bifida and other neural tube defects

    Epidemiologic and genetic aspects of spina bifida and other neural tube defects 由 Kit Sing Au, Allison E. Ashley‐Koch, Hope Northrup

    出版 2010
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  3. 3
    Receptor activity of rotavirus nonstructural glycoprotein NS28

    Receptor activity of rotavirus nonstructural glycoprotein NS28 由 Kit Sing Au, W K Chan, John W. Burns, Mary K. Estes

    出版 1989
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  4. 4
    Germ-Line Mosaicism in Tuberous Sclerosis: How Common?

    Germ-Line Mosaicism in Tuberous Sclerosis: How Common? 由 Verna M. Rose, Kit Sing Au, Gretchen Pollom, E. Steve Roach, Heather R. Prashner, Hope Northrup

    出版 1999
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  5. 5
    Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets

    Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets 由 Mary D. Ruppe, Patrick G. Brosnan, Kit Sing Au, Phong X. Tran, Barbara W. Dominguez, Hope Northrup

    出版 2010
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  6. 6
    Germ-Line Mutational Analysis of the TSC2 Gene in 90 Tuberous-Sclerosis Patients

    Germ-Line Mutational Analysis of the TSC2 Gene in 90 Tuberous-Sclerosis Patients 由 Kit Sing Au, Joseph Rodriguez, Jennifer L. Finch, Kelly A. Volcik, E. Steve Roach, Mauricio R. Delgado, Estanislado Rodriguez, Hope Northrup

    出版 1998
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  7. 7
    Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants

    Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants 由 Joyce Y. Wu, Jurriaan M. Peters, Monisha Goyal, Darcy A. Krueger, Mustafa Şahin, Hope Northrup, Kit Sing Au, Gary Cutter, E. Martina Bebin

    出版 2015
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  8. 8
    Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants

    Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants 由 Peter E. Davis, Rajna Filip‐Dhima, Georgios D. Sideridis, Jurriaan M. Peters, Kit Sing Au, Hope Northrup, E. Martina Bebin, Joyce Y. Wu, Darcy A. Krueger, Mustafa Şahin

    出版 2017
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  9. 9
    ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans

    ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans 由 Hongyu Luo, Linjiang Lao, Kit Sing Au, Hope Northrup, Xiao He, Diane Forget, Marie‐Soleil Gauthier, Benoit Coulombe, Isabelle Bourdeau, Wei Shi, Lucia Gagliardi, Maria Candida Barisson Villares Fragoso, Junzheng Peng, Jiangping Wu

    出版 2024
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  10. 10
    Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States

    Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States 由 Kit Sing Au, Aimee T. Williams, E. Steve Roach, Lori Batchelor, Steven Sparagana, Mauricio R. Delgado, James W. Wheless, James E. Baumgartner, Benjamin B. Roa, Carolyn M. Wilson, Teresa K. Smith-Knuppel, Min-Yuen C. Cheung, Vicky Whittemore, Terri M. King, Hope Northrup

    出版 2007
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  11. 11
    Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational study

    Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational study 由 Joyce Y. Wu, Monisha Goyal, Jurriaan M. Peters, Darcy A. Krueger, Mustafa Şahin, Hope Northrup, Kit Sing Au, Sarah O’Kelley, Marian E. Williams, Deborah A. Pearson, Ellen Hanson, Anna W. Byars, Jessica Krefting, Mark Beasley, Gary Cutter, Nita A. Limdi, E. Martina Bebin

    出版 2019
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  12. 12
    The genomic landscape of tuberous sclerosis complex

    The genomic landscape of tuberous sclerosis complex 由 Katie R. Martin, Wanding Zhou, Megan J. Bowman, Juliann Shih, Kit Sing Au, Kristin E. Dittenhafer‐Reed, Kellie A. Sisson, Julie Koeman, Daniel J. Weisenberger, Sandra Cottingham, Steven T. DeRoos, Orrin Devinsky, Mary E. Winn, Andrew D. Cherniack, Hui Shen, Hope Northrup, Darcy A. Krueger, Jeffrey P. MacKeigan

    出版 2017
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  13. 13
    The contribution of de novo coding mutations to meningomyelocele

    The contribution of de novo coding mutations to meningomyelocele 由 Yoo-Jin Ha, Ashna Nisal, Isaac Tang, Chanjae Lee, Ishani Jhamb, Cassidy Wallace, Robyn E. Howarth, Sarah Schroeder, Keng Ioi Vong, Naomi Meave, Fiza Jiwani, Chelsea Barrows, Sangmoon Lee, Nan Jiang, Arzoo Patel, Krisha Bagga, Niyati Banka, Linda R. Friedman, Francisco A. Blanco, Seyoung Yu, Sue Goo Rhee, Hui Su Jeong, Isaac Plutzer, Michael B. Major, Béatrice Benoit, Christian Poüs, Caleb Heffner, Zoha Kibar, Gyang Markus Bot, Hope Northrup, Kit Sing Au, Madison Strain, Allison E. Ashley‐Koch, Richard H. Finnell, Joan T. Le, Hal S. Meltzer, Camila Araújo, Hélio Rubens Machado, Roger E. Stevenson, Anna Yurrita, Sara Mumtaz, Awais Ahmed, Maliha Khara, Osvaldo M. Mutchinick, José Ramón Medina-Bereciartu, Friedhelm Hildebrandt, Gia Melikishvili, Ahmed I. Marwan, Valeria Capra, Mahmoud M. Noureldeen, Aida M. S. Salem, Mahmoud Y. Issa, Maha S. Zaki, Libin Xu, Ji Eun Lee, Dong Hyuk Shin, Anna Alkelai, Alan R. Shuldiner, Stephen F. Kingsmore, Stephen A. Murray, Heon Yung Gee, W. Todd Miller, Kimberley F. Tolias, John B. Wallingford, Allison E. Ashley‐Koch, Hal S. Meltzer, Joan T. Le, Kit Sing Au, Philip J. Lupo, Camila Araújo, Tony Magana, Caroline M. Kolvenbach, Shirlee Shril, Yukitoshi Takahashi, Hormos Salimi-Dafsari, H. Westley Phillips, Brian W. Hanak, Bülent Kara, Ayfer Sakarya Güneş, David Gonda, Salman Kirmani, Tinatin Tkemaladze, Sangwoo Kim, Joseph G. Gleeson

    出版 2025
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  14. 14
    The contribution of de novo coding mutations to meningomyelocele

    The contribution of de novo coding mutations to meningomyelocele 由 Yoo-Jin Ha, Isaac Tang, Ashna Nisal, Ishani Jhamb, Cassidy Wallace, Sarah Schroeder, Chanjae Lee, Keng Ioi Vong, Naomi Meave, Fiza Jiwani, Chelsea Barrows, Sangmoon Lee, Nan Jiang, Arzoo Patel, Francisco A. Blanco, Seyoung Yu, Hui Su Jeong, Isaac Plutzer, Michael B. Major, Béatrice Benoit, Christian Poüs, Caleb Heffner, Zoha Kibar, Gyang Markus Bot, Hope Northrup, Kit Sing Au, Madison Strain, Allison E. Ashley‐Koch, Richard H. Finnell, Joan T. Le, Hal Meltzer, Camila Araújo, Hélio Rubens Machado, Roger E. Stevenson, Anna Yurrita, Sara Mumtaz, Osvaldo M. Mutchinick, José Ramón Medina-Bereciartu, Friedhelm Hildebrandt, Gia Melikishvili, Rony Marwan, Valeria Capra, Mahmoud M. Noureldeen, Aida M. S. Salem, Mahmoud Y. Issa, Maha S. Zaki, Ji Eun Lee, Anna Alkelai, Alan R. Shuldiner, Stephen F. Kingsmore, Stephen A. Murray, Heon Yung Gee, W. Todd Miller, Kimberley F. Tolias, John B. Wallingford, Sangwoo Kim, Joseph G. Gleeson

    出版 2024
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  15. 15
    SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

    SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability 由 Elke Bogaert, Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Pontus LeBlanc, Emma van Reempts, Frédéric Tran Mau‐Them, Ingrid M. Wentzensen, Kit Sing Au, Kate Richardson, Hope Northrup, Vincent Gâtinois, David Geneviève, Raymond J. Louie, Michael J. Lyons, Lone Walentin Laulund, Charlotte Brasch‐Andersen, Trine Juul, Fatima El It, Nathalie Marle, Patrick Callier, Raissa Relator, Sadegheh Haghshenas, Haley McConkey, Jennifer Kerkhof, Claudia Cesario, Antonio Novelli, Nicola Brunetti‐Pierri, Michele Pinelli, Perrine Pennamen, Sophie Naudion, Marine Legendre, Cécile Courdier, Aurélien Trimouille, Martine Doco Fenzy, Lynn Pais, Alison Yeung, Kimberly Nugent, Elizabeth Roeder, Tadahiro Mitani, Jennifer E. Posey, Daniel G. Calame, Hagith Yonath, Jill A. Rosenfeld, Luciana Musante, Flavio Faletra, Francesca Montanari, Giovanna Sartor, Alessandra Vancini, Marco Seri, Claude Besmond, Karine Poirier, Laurence Hubert, Dimitri Hemelsoet, Arnold Münnich, James R. Lupski, Christophe Philippe, Christel Thauvin‐Robinet, Laurence Faivre, Bekim Sadiković, Jérôme Govin, Bart Dermaut, Antonio Vitobello

    出版 2023
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