Resultats de la cerca - Richard H. Scott

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  1. 1
    Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour

    Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour per Richard H. Scott

    Publicat 2006
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  2. 2
    The rise of the genome and personalised medicine

    The rise of the genome and personalised medicine per Helen Brittain, Richard H. Scott, Ellen Thomas

    Publicat 2017
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  3. 3
    An online compendium of treatable genetic disorders

    An online compendium of treatable genetic disorders per David Bick, Sarah L. Bick, David Dimmock, Tom Fowler, Mark J. Caulfield, Richard H. Scott

    Publicat 2020
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  4. 4
    Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities

    Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities per Suzanne Drury, Hywel Williams, Natalie Trump, C. R. Boustred, Nicholas Lench, Richard H. Scott, Lyn S. Chitty

    Publicat 2015
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  5. 5
    Genomic newborn screening: Are we entering a new era of screening?

    Genomic newborn screening: Are we entering a new era of screening? per Ute Spiekerkoetter, David Bick, Richard H. Scott, Henrietta Hopkins, Tanja Krones, Edith Gross, James R. Bonham

    Publicat 2023
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  6. 6
    <i>GABRB3</i> mutations: a new and emerging cause of early infantile epileptic encephalopathy

    <i>GABRB3</i> mutations: a new and emerging cause of early infantile epileptic encephalopathy per Apostolos Papandreou, Amy McTague, Natalie Trump, Gautam Ambegaonkar, Adeline Ngoh, Esther Meyer, Richard H. Scott, Manju A. Kurian

    Publicat 2015
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  7. 7
    Circulating and urinary micro<scp>RNA</scp> profile in focal segmental glomerulosclerosis: a pilot study

    Circulating and urinary micro<scp>RNA</scp> profile in focal segmental glomerulosclerosis: a pilot study per Ali Ramezani, Joseph M. Devaney, Scott Cohen, Maria R. Wing, Richard H. Scott, Susan M. Knoblach, Rishi Singhal, Lilian Howard, Jeffrey B. Kopp, Dominic S. Raj

    Publicat 2015
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  8. 8
    MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia

    MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia per Manuela Germeshausen, Phil Ancliff, Jaime Estrada, Markus Metzler, Eva Ponstingl, Horst Rütschle, Dirk Schwabe, Richard H. Scott, Şule Ünal, Angela Wawer, Bernward Zeller, Matthias Ballmaier

    Publicat 2018
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  9. 9
    Newborn Screening by Genomic Sequencing: Opportunities and Challenges

    Newborn Screening by Genomic Sequencing: Opportunities and Challenges per David Bick, Arzoo Ahmed, Dasha Deen, Alessandra Ferlini, Nicolas Garnier, Dalia Kasperavičiūtė, Mathilde Leblond, Amanda Pichini, Augusto Rendon, Aditi Satija, Alice Tuff-Lacey, Richard H. Scott

    Publicat 2022
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  10. 10
    Surveillance for Wilms tumour in at-risk children: pragmatic recommendations for best practice

    Surveillance for Wilms tumour in at-risk children: pragmatic recommendations for best practice per Richard H. Scott, Lynn M. Walker, Oddrun Elise Olsen, Gill Levitt, I J Kenney, Eamonn R. Maher, Cátherine M. Owens, Kathy Pritchard‐Jones, Alan Craft, Nazneen Rahman

    Publicat 2006
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  11. 11
    Extracellular microRNA signature in chronic kidney disease

    Extracellular microRNA signature in chronic kidney disease per Jagdeesan Muralidharan, Ali Ramezani, Monica J. Hubal, Susan M. Knoblach, Shashi Shrivastav, Sara Karandish, Richard H. Scott, Nirmal Maxwell, Savaş Öztürk, Srinivasan Beddhu, Jeffrey B. Kopp, Dominic S. Raj

    Publicat 2017
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  12. 12
    The expanding global genomics landscape: Converging priorities from national genomics programs

    The expanding global genomics landscape: Converging priorities from national genomics programs per Caitlin Howley, Matilda Haas, Wadha A. Al Muftah, Robert B. Annan, Eric D. Green, Bettina Lundgren, Richard H. Scott, Zornitza Stark, Patrick Tan, Kathryn N. North, Tiffany Boughtwood

    Publicat 2025
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  13. 13
    Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature

    Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature per Merel Klaassens, Deborah Morrogh, Elisabeth Rosser, Fatima Jaffer, Maaike Vreeburg, Levinus A. Bok, Tim Segboer, Martine van Belzen, Rosaline C. M. Quinlivan, Ajith Kumar, Jane A. Hurst, Richard H. Scott

    Publicat 2014
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  14. 14
    Developing a National Newborn Genomes Program: An Approach Driven by Ethics, Engagement and Co-design

    Developing a National Newborn Genomes Program: An Approach Driven by Ethics, Engagement and Co-design per Amanda Pichini, Arzoo Ahmed, Christine Patch, David Bick, Mathilde Leblond, Dalia Kasperavičiūtė, Dasha Deen, Simon A. Wilde, Sofia Garcia Noriega, Christella Matoko, Alice Tuff-Lacey, Chris Wigley, Richard H. Scott

    Publicat 2022
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  15. 15
    Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

    Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis per Natalie Trump, Amy McTague, Helen Brittain, Apostolos Papandreou, Esther Meyer, Adeline Ngoh, Rodger Palmer, Deborah Morrogh, C. R. Boustred, Jane A. Hurst, Lucy Jenkins, Manju A. Kurian, Richard H. Scott

    Publicat 2016
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  16. 16
    Phenotypic expansion of <i>POGZ</i>‐related intellectual disability syndrome (White‐Sutton syndrome)

    Phenotypic expansion of <i>POGZ</i>‐related intellectual disability syndrome (White‐Sutton syndrome) per Nurit Assia Batzir, Jennifer E. Posey, Xiaofei Song, Zeynep Coban‐Akdemir, Jill A. Rosenfeld, Chester Brown, Emily Chen, Shannon Holtrop, Elizabeth Mizerik, Margarita Nieto Moreno, Katelyn Payne, Annick Raas‐Rothschild, Richard H. Scott, Hilary J. Vernon, Neda Zadeh, James R. Lupski, V. Reid Sutton

    Publicat 2019
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  17. 17
    Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome

    Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome per François Bernier, Oana Caluseriu, Sarah Ng, Jeremy Schwartzentruber, Kati J. Buckingham, A. Micheil Innes, Ethylin Wang Jabs, Jeffrey W. Innis, Jane L. Schuette, Jerome L. Gorski, Peter H. Byers, Grégor Andelfinger, Victoria Mok Siu, Julie Lauzon, Bridget A. Fernandez, Margaret J. McMillin, Richard H. Scott, Hilary Racher, Jacek Majewski, Deborah A. Nickerson, Jay Shendure, Michael J. Bamshad, Jillian S. Parboosingh

    Publicat 2012
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  18. 18
    Stratification of Wilms tumor by genetic and epigenetic analysis

    Stratification of Wilms tumor by genetic and epigenetic analysis per Richard H. Scott, Anne R. Murray, Linda Baskcomb, Clare Turnbull, Chey Loveday, Reem Al‐Saadi, Richard D. Williams, Fin Breatnach, Mary Gerrard, Juliet Hale, Janice A. Kohler, Pablo Lapunzina, Gill Levitt, Sue Picton, Barry Pizer, Milind Ronghe, Heidi Traunecker, Denise Williams, Anna Kelsey, Gordan Vujanić, Neil J. Sebire, Paul E. Grundy, Charles Stiller, Kathy Pritchard‐Jones, Jenny Douglas, Nazneen Rahman

    Publicat 2012
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  19. 19
    Common variations in BARD1 influence susceptibility to high-risk neuroblastoma

    Common variations in BARD1 influence susceptibility to high-risk neuroblastoma per Mario Capasso, Marcella Devoto, Cuiping Hou, Shahab Asgharzadeh, Joseph Glessner, Edward F. Attiyeh, Yaël P. Mossé, Cecilia Kim, Sharon J. Diskin, Kristina A. Cole, Kristopher R. Bosse, Maura Diamond, Marci Laudenslager, Cynthia Winter, Jonathan P. Bradfield, Richard H. Scott, Jayanti Jagannathan, Maria Garris, Carmel McConville, Wendy B. London, Robert C. Seeger, Struan F.A. Grant, Hongzhe Li, Nazneen Rahman, Eric Rappaport, Hákon Hákonarson, John M. Maris

    Publicat 2009
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  20. 20
    Delineation of the movement disorders associated with <i>FOXG1</i> mutations

    Delineation of the movement disorders associated with <i>FOXG1</i> mutations per Apostolos Papandreou, Ruth B. Schneider, Erika F. Augustine, Joanne Ng, Kshitij Mankad, Esther Meyer, Amy McTague, Adeline Ngoh, Cheryl Hemingway, Robert Robinson, Sophia Varadkar, Maria Kinali, Vincenzo Salpietro, Margaret C. O'Driscoll, Sheikh Basheer, Richard Webster, Shekeeb S. Mohammad, Shpresa Pula, Marian McGowan, Natalie Trump, Lucy Jenkins, Frances Elmslie, Richard H. Scott, Jane A. Hurst, Belén Pérez‐Dueñas, Alexander Paciorkowski, Manju A. Kurian

    Publicat 2016
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