檢索結果 - Siddharth Banka

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  1. 1
    A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations

    A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations 由 Siddharth Banka, William G. Newman

    出版 2013
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    Revisão
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  2. 2
    Corneal confocal microscopy detects small‐fiber neuropathy in Charcot–Marie–Tooth disease type 1A patients

    Corneal confocal microscopy detects small‐fiber neuropathy in Charcot–Marie–Tooth disease type 1A patients 由 Mitra Tavakoli, A. Marshall, Siddharth Banka, Ioannis N. Petropoulos, Hassan Fadavi, Helen Kingston, Rayaz A. Malik

    出版 2012
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    Artigo
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  3. 3
    Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3

    Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3 由 Siddharth Banka, Elena Chervinsky, William G. Newman, Yanick J. Crow, Shay Yeganeh, Joanne Yacobovich, Dian Donnai, Stavit A. Shalev

    出版 2010
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    Artigo
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  4. 4
    Exome Sequencing Identifies a Dominant <b><i>TNNT3</i></b> Mutation in a Large Family with Distal Arthrogryposis

    Exome Sequencing Identifies a Dominant <b><i>TNNT3</i></b> Mutation in a Large Family with Distal Arthrogryposis 由 Sarah B. Daly, Hitesh Shah, James O’Sullivan, Beverley Anderson, Sanjeev S. Bhaskar, Simon Williams, Nada Al-Sheqaih, Abdul Mueed Bidchol, Siddharth Banka, William G. Newman, Katta M. Girisha

    出版 2014
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    Artigo
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  5. 5
    Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastric neuroendocrine tumour

    Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastric neuroendocrine tumour 由 Oriol Calvete, José Reyes, S. Zúñiga, Beatriz Paumard‐Hernández, María Victoria Fernández, Luís Bujanda, María Rodríguez‐Pinilla, José Palacios, Damián Heine‐Suñer, Siddharth Banka, William G. Newman, Marta Cañamero, D. Mark Pritchard, Javier Benı́tez

    出版 2015
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    Artigo
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  6. 6
    A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations

    A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations 由 Ranjay Jayadev, Mychel Morais, Jamie M. Ellingford, Sandhya Srinivasan, Richard W. Naylor, Craig Lawless, Anna S Li, Jack Ingham, Eric Hastie, Qiuyi Chi, Maryline Fresquet, Nikki-Maria Koudis, Huw B. Thomas, Raymond T. O’Keefe, E. G. Williams, Antony Adamson, Helen M. Stuart, Siddharth Banka, Damian Smedley, David R. Sherwood, Rachel Lennon

    出版 2022
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    Artigo
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  7. 7
    Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency

    Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency 由 Siddharth Banka, Henk J. Blom, John H. Walter, Majid Aziz, Jill Urquhart, Christopher M. Clouthier, Gillian Rice, Arjan P.M. de Brouwer, Emma Hilton, Grace Vassallo, Andrew Will, Desirée E.C. Smith, Yvo M. Smulders, Ron A. Wevers, Robert Steinfeld, Simon Heales, Yanick J. Crow, Joelle N. Pelletier, Simon Jones, William G. Newman

    出版 2011
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    Artigo
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  8. 8
    RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

    RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes 由 Margot R.F. Reijnders, Nurhuda Mohamad Ansor, Maria Kousi, Wyatt W. Yue, Perciliz L. Tan, Katie Clarkson, Jill Clayton‐Smith, Ken Corning, Julie R. Jones, Wayne Lam, Grazia M.S. Mancini, Carlo Marcelis, Shehla Mohammed, Rolph Pfundt, Maian Roifman, Ronald D. Cohn, David Chitayat, Tom H. Millard, Nicholas Katsanis, Han G. Brunner, Siddharth Banka

    出版 2017
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    Artigo
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  9. 9
    Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

    Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance 由 Emma M.M. Burkitt Wright, Helen Spencer, Sarah B. Daly, Forbes D.C. Manson, Leo Zeef, Jill Urquhart, Nicoletta Zoppi, R E Bonshek, Ioannis Tosounidis, Meyyammai Mohan, Colm Madden, Annabel Dodds, Kate Chandler, Siddharth Banka, Leon Au, Jill Clayton‐Smith, Naz Khan, Leslie G. Biesecker, Meredith Wilson, Marianne Rohrbach, Marina Colombi, Cecilia Giunta, Graeme Black

    出版 2011
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    Artigo
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  10. 10
    Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing

    Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing 由 Arunabha Ghosh, Hélene Schlecht, Lesley Heptinstall, John Bassett, Eleanor Cartwright, Sanjeev S. Bhaskar, Jill Urquhart, Alexander Broomfield, Andrew A. M. Morris, Elisabeth Jameson, Bernd Schwahn, John H. Walter, Sofia Douzgou, Helen Murphy, Christian J. Hendriksz, Reena Sharma, Gisela Wilcox, Ellen Crushell, Ardeshir A. Monavari, R. J. Martin, Anne Doolan, Senthil Senniappan, Simon Ramsden, Simon Jones, Siddharth Banka

    出版 2017
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  11. 11
    Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

    Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine 由 Víctor Faúndes, Martin D. Jennings, Siobhan Crilly, Sarah Legraie, Sarah E. Withers, Sara Cuvertino, Sally Davies, Andrew G. L. Douglas, Andrew E. Fry, Victoria Harrison, Jeanne Amiel, Daphné Lehalle, William G. Newman, Patricia Newkirk, Judith D. Ranells, Miranda Splitt, Laura Cross, Carol Saunders, Bonnie Sullivan, Jorge L. Granadillo, Christopher T. Gordon, Paul R. Kasher, Graham D. Pavitt, Siddharth Banka

    出版 2021
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    Artigo
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  12. 12
    Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases

    Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases 由 Bergithe E Oftedal, Alexander Hellesen, Martina M. Erichsen, Eirik Bratland, Ayelet Vardi, Jaakko Perheentupa, E. Helen Kemp, Torunn Fiskerstrand, Marte K. Viken, Anthony P. Weetman, Sarel J. Fleishman, Siddharth Banka, William G. Newman, William A. Sewell, Leila Sozaeva, Tetyana Zayats, Kristoffer Haugarvoll, Elizaveta Orlova, Jan Haavik, Stefan Johansson, Per M. Knappskog, Kristian Løvås, Anette S. B. Wolff, Jakub Abramson, Eystein S. Husebye

    出版 2015
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  13. 13
    RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

    RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome 由 Nina Bögershausen, I-Chun Tsai, Esther Pohl, Pelin Özlem Şimşek‐Kiper, Filippo Beleggia, E. Ferda Perçin, Katharina Keupp, Angela Matchan, Esther Milz, Yasemin Alanay, Hülya Kayserili, Yicheng Liu, Siddharth Banka, Andrea Kranz, Martin Zenker, Dagmar Wieczorek, Nursel Elçioğlu, Paolo Prontera, Stanislas Lyonnet, Thomas Meitinger, Aengus Stewart, Dian Donnai, Tim M. Strom, Koray Boduroğlu, Gökhan Yigit, Yun Li, Nicholas Katsanis, Bernd Wollnik

    出版 2015
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    Artigo
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  14. 14
    Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

    Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability 由 Paul R. Kasher, Katherine E. Schertz, Megan Thomas, Adam Jackson, Silvia Annunziata, María Juliana Ballesta‐Martínez, Philippe M. Campeau, Peter Clayton, Jennifer L. Eaton, Tiziana Granata, Encarna Guillén‐Navarro, Cristina Hernándo, Caroline E. Laverriere, Agne Liedén, Olaya Villa-Marcos, Meriel McEntagart, Ann Nordgren, Chiara Pantaleoni, Céline Pebrel‐Richard, Catherine Sarret, Francesca L. Sciacca, Ronnie Wright, Bronwyn Kerr, Eric Glasgow, Siddharth Banka

    出版 2016
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    Artigo
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  15. 15
    Activating<i>RAC1</i>variants in the switch II region cause a developmental syndrome and alter neuronal morphology

    Activating<i>RAC1</i>variants in the switch II region cause a developmental syndrome and alter neuronal morphology 由 Siddharth Banka, Abigail Bennington, Martin J. Baker, Ellen Rijckmans, Giuliana Clemente, Nurhuda Mohamad Ansor, Hilary Sito, P. Phaniram Prasad, Kwame Anyane‐Yeboa, Lauren Badalato, Boyan Dimitrov, David Fitzpatrick, Anna Hurst, Anna Jansen, Melissa Kelly, Ian D. Krantz, Claudine Rieubland, Meredith J. Ross, Natasha L. Rudy, Javier Sanz, Katrien Stouffs, Zhuo Luan Xu, Angeliki Malliri, Marcelo G. Kazanietz, Tom H. Millard

    出版 2022
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    Artigo
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  16. 16
    Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

    Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height 由 Katrina Tatton‐Brown, Sandra Hanks, Elise Ruark, Anna Zachariou, Silvana Del Vecchio Duarte, Emma Ramsay, Katie Snape, Anne R. Murray, Elizabeth R Perdeaux, Sheila Seal, Chey Loveday, Siddharth Banka, Carol L. Clericuzio, Frances Flinter, Alex Magee, Vivienne McConnell, Michael A. Patton, Wolfgang Raith, Julia Rankin, Miranda Splitt, Volker Strenger, Clare Taylor, Patricia G. Wheeler, I. Karen Temple, Trevor Cole, Jenny Douglas, Nazneen Rahman

    出版 2011
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    Artigo
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  17. 17
    Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease

    Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease 由 Alexandra C Martin-Geary, Alexander J. M. Blakes, Ruebena Dawes, Scott D. Findlay, Jenny Lord, Shan Dong, Susan Walker, Jonathan Talbot-Martin, Nechama Wieder, Elston N. D’Souza, Maria Fernandes, Sarah K. Hilton, Nayana Lahiri, Christopher Campbell, Sarah Jenkinson, Christian G E L DeGoede, Emily E. Anderson, Toby Candler, Helen V. Firth, Christopher B. Burge, Stephan Sanders, Jamie M. Ellingford, Diana Baralle, Siddharth Banka, Nicola Whiffin

    出版 2025
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    Artigo
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  18. 18
    The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

    The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations 由 Pedro M. Rodríguez Cruz, Judith Cossins, Eduardo de Paula Estephan, Francina Munell, Kathryn Selby, Michio Hirano, Reza Maroofin, Mohammad Yahya Vahidi Mehrjardi, Gabriel Chow, Aisling Carr, Adnan Manzur, S. Robb, Pinki Munot, Weiwei Liu, Siddharth Banka, Harry Fraser, Christian de Goede, Edmar Zanoteli, Umbertina Conti Reed, Abigail Sage, M. Gratacós, Alfons Macaya, Marina Dusl, Jan Senderek, Ana Töpf, Monika Hofer, Ravi Knight, Sithara Ramdas, Sandeep Jayawant, Hanns Lochmüller, Jacqueline Palace, David Beeson

    出版 2019
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    Artigo
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  19. 19
    Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia

    Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia 由 Frédéric M. Vaz, John McDermott, Mariëlle Alders, Saskia B. Wortmann, Stefan Kölker, Mia L. Pras‐Raves, Martin A. T. Vervaart, Henk van Lenthe, Angela C. M. Luyf, Hyung L. Elfrink, Kay Metcalfe, Sara Cuvertino, Peter Clayton, Rebecca Yarwood, Martin Lowe, Simon C. Lovell, Richard C. Rogers, Antoine H. C. van Kampen, Jos P.N. Ruiter, Ronald J. A. Wanders, Sacha Ferdinandusse, Michel van Weeghel, Marc Engelen, Siddharth Banka

    出版 2019
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  20. 20
    Weaver syndrome and <i>EZH2</i> mutations: Clarifying the clinical phenotype

    Weaver syndrome and <i>EZH2</i> mutations: Clarifying the clinical phenotype 由 Katrina Tatton‐Brown, Anne R. Murray, Sandra Hanks, Jenny Douglas, Ruth Armstrong, Siddharth Banka, Lynne M. Bird, Carol L. Clericuzio, Valérie Cormier‐Daire, Tom Cushing, Frances Flinter, Marie‐Line Jacquemont, Shelagh Joss, Esther Kinning, Sally Ann Lynch, Alex Magee, Vivienne McConnell, Ana Medeira, Keiichi Ozono, Michael A. Patton, Julia Rankin, Debbie Shears, Marleen Simon, Miranda Splitt, Volker Strenger, Kyra E. Stuurman, Clare Taylor, Hannah Titheradge, Lionel Van Maldergem, I. Karen Temple, Trevor Cole, Sheila Seal, Nazneen Rahman

    出版 2013
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