Resultados de búsqueda - Julia Rankin

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  1. 1
    A molecular investigation of true dominance in Huntington's disease

    A molecular investigation of true dominance in Huntington's disease por Y. Narain, Andreas Wyttenbach, Julia Rankin, R. A. Furlong, David C. Rubinsztein

    Publicado 1999
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  2. 2
    α-Synuclein overexpression promotes aggregation of mutant huntingtin

    α-Synuclein overexpression promotes aggregation of mutant huntingtin por Robert A. Furlong, Y. Narain, Julia Rankin, Andreas Wyttenbach, David C. Rubinsztein

    Publicado 2000
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  3. 3
    Effects of heat shock, heat shock protein 40 (HDJ-2), and proteasome inhibition on protein aggregation in cellular models of Huntington's disease

    Effects of heat shock, heat shock protein 40 (HDJ-2), and proteasome inhibition on protein aggregation in cellular models of Huntington's disease por Andreas Wyttenbach, Jenny Carmichael, Jina Swartz, Robert A. Furlong, Y. Narain, Julia Rankin, David C. Rubinsztein

    Publicado 2000
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  4. 4
    Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation

    Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation por Zagaa Odgerel, Anna Sárközy, Hee-Suk Lee, Caoimhe McKenna, Julia Rankin, Volker Straub, Hanns Lochmüller, Paola Francalanci, Adele D’Amico, Enrico Bertini, Kate Bushby, Lev G. Goldfarb

    Publicado 2010
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  5. 5
    Overlapping cortical malformations and mutations in TUBB2B and TUBA1A

    Overlapping cortical malformations and mutations in TUBB2B and TUBA1A por Thomas D. Cushion, William B. Dobyns, Jonathan G.L. Mullins, Neil Stoodley, Seo‐Kyung Chung, Andrew E. Fry, Ute Hehr, Roxana Gunny, Arthur S. Aylsworth, Prab Prabhakar, Gökhan Uyanık, Julia Rankin, Mark I. Rees, Daniela T. Pilz

    Publicado 2013
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  6. 6
    Extreme phenotypic diversity and nonpenetrance in families with the <i>LMNA</i> gene mutation R644C

    Extreme phenotypic diversity and nonpenetrance in families with the <i>LMNA</i> gene mutation R644C por Julia Rankin, Michaela Auer‐Grumbach, Warwick Bagg, Kevin Colclough, Nguyễn Thùy Dương, Jane Fenton‐May, Andrew T. Hattersley, Judith A. Hudson, Philip Jardine, Dragana Josifova, Cheryl Longman, Robert McWilliam, Katharine R. Owen, Mark S. Walker, Manfred Wehnert, Sian Ellard

    Publicado 2008
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  7. 7
    PMS2 Mutations in Childhood Cancer

    PMS2 Mutations in Childhood Cancer por Michel De Vos, Bruce E. Hayward, Ruth Charlton, Graham R. Taylor, Adam Glaser, Susan Picton, Trevor Cole, Eamonn R. Maher, Carole M. E. McKeown, Jill R. Mann, John R. Yates, Diana Baralle, Julia Rankin, David T. Bonthron, Eamonn Sheridan

    Publicado 2006
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  8. 8
    <i>TCF4</i>Deletions in Pitt-Hopkins Syndrome

    <i>TCF4</i>Deletions in Pitt-Hopkins Syndrome por Irina Giurgea, Chantal Missirian, Pierre Cacciagli, Sandra Whalen, Tessa Fredriksen, Thierry Gaillon, Julia Rankin, Michèle Mathieu‐Dramard, G Morin, Dominique Martin–Coignard, Christèle Dubourg, B. Chabrol, Jacqueline Arfi, Fabienne Giuliano, Jean Claude Lambert, Nicole Philip, Pierre Sarda, Laurent Villard, Michel Goossens, Anne Moncla

    Publicado 2008
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  9. 9
    De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

    De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome por Hannah Sleven, Seth J. Welsh, Jing Yu, Mair E. A. Churchill, Caroline F. Wright, Alex Henderson, Rita Horváth, Julia Rankin, Julie Vogt, Alex Magee, Vivienne McConnell, Andrew Green, Mary D. King, Helen Cox, Linlea Armstrong, Anna Lehman, Tanya N. Nelson, Jonathan Williams, Penny Clouston, James Hagman, Andrea H. Németh

    Publicado 2016
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  10. 10
    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 por 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

    Publicado 2011
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  11. 11
    Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders

    Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders por Halie May, Jae‐Hoon Jeong, Anya Revah‐Politi, Julie S. Cohen, Anna Chassevent, Júlia Baptista, Evan H. Baugh, Louise Bier, Armand Bottani, Maria resa Te Carminho A. Rodrigues, Charles Conlon, Joël Fluss, Michel Guipponi, Chong Ae Kim, Naomichi Matsumoto, Richard Person, Michelle Primiano, Julia Rankin, Marwan Shinawi, Constance Smith‐Hicks, Aida Telegrafi, Samantha Toy, Yuri Uchiyama, Vimla S. Aggarwal, David B. Goldstein, Katherine W. Roche, Kwame Anyane‐Yeboa

    Publicado 2021
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  12. 12
    Weaver syndrome and <i>EZH2</i> mutations: Clarifying the clinical phenotype

    Weaver syndrome and <i>EZH2</i> mutations: Clarifying the clinical phenotype por 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

    Publicado 2013
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  13. 13
    NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses

    NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses por Nicole J. Van Bergen, Yiran Guo, Julia Rankin, Nicole Paczia, Julia Becker‐Kettern, Laura S. Kremer, Angela Pyle, Jean-François Conrotte, Carolyn Ellaway, Peter Procopis, Kristina Prelog, Tessa Homfray, Júlia Baptista, Emma L. Baple, Matthew N. Wakeling, Sean Massey, Daniel P. Kay, Anju Shukla, Katta M. Girisha, Leslie Lewis, Saikat Santra, Rachel Power, Piers Daubeney, Julio Montoya, Eduardo Ruiz‐Pesini, Réka Kovács-Nagy, Martin Pritsch, Uwe Ahting, David R. Thorburn, Holger Prokisch, Robert W. Taylor, John Christodoulou, Carole L. Linster, Sian Ellard, Hákon Hákonarson

    Publicado 2018
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  14. 14
    Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

    Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development por Raphael Bernier, Christelle Golzio, Bo Xiong, Holly A.F. Stessman, Bradley P. Coe, Osnat Penn, Kali Witherspoon, Jennifer Gerdts, Carl Baker, Anneke T. Vulto-van Silfhout, Janneke Schuurs-Hoeijmakers, Marco Fichera, Paolo Bosco, Serafino Buono, A Alberti, Pinella Failla, Hilde Peeters, Jean Steyaert, Lisenka E.L.M. Vissers, Ludmila Francescatto, Heather C. Mefford, Jill A. Rosenfeld, Trygve E. Bakken, Brian J. O’Roak, Matthew Pawlus, Randall T. Moon, Jay Shendure, David G. Amaral, Ed S. Lein, Julia Rankin, Corrado Romano, Bert de Vries, Nicholas Katsanis, Evan E. Eichler

    Publicado 2014
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  15. 15
    Clinical spectrum of POLR3-related leukodystrophy caused by biallelic <i>POLR1C</i> pathogenic variants

    Clinical spectrum of POLR3-related leukodystrophy caused by biallelic <i>POLR1C</i> pathogenic variants por Laurence Gauquelin, Ferdy Kurniawan Cayami, László Sztriha, Grace Yoon, Luan T. Tran, Kether Guerrero, François Hocke, Rosalina M.L. van Spaendonk, Eva Fung, Stefano D’Arrigo, Gessica Vasco, Isabelle Thiffault, Dmitriy Niyazov, Richard Person, Kara Stuart Lewis, Evangeline Wassmer, Trine Prescott, Penny Fallon, Meriel McEntagart, Julia Rankin, Richard Webster, Heike Philippi, Bart van de Warrenburg, Dagmar Timmann, Abhijit Dixit, Claire Searle, Nivedita Thakur, Michael C. Kruer, Suvasini Sharma, Adeline Vanderver, Davide Tonduti, Marjo S. van der Knaap, Enrico Bertini, Cyril Goizet, Sébastien Fribourg, Nicole I. Wolf, Geneviève Bernard

    Publicado 2019
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  16. 16
    An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants

    An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants por Bruce Nmezi, Guillermo Rodríguez Bey, Talia DeFrancesco Oranburg, Kseniia Dudnyk, Santana M. Lardo, Nathan Herdman, Anastasia M. Jacko, Sandy Rubio, Emanuel Loeza Alcocer, Julia Kofler, Dongkyeong Kim, Julia Rankin, Emma Kivuva, Nicholas J. Gutowski, Katherine Schon, Jelle van den Ameele, Patrick F. Chinnery, Sérgio B. Sousa, Filipe Palavra, Camilo Toro, Filippo Pinto e Vairo, Jonas Alex Morales Saute, Lisa Pan, Murad Alturkustani, Robert Hammond, François Gros‐Louis, Michael Gold, Yungki Park, Geneviève Bernard, Raili Raininko, Jian Zhou, Sarah J. Hainer, Quasar Saleem Padiath

    Publicado 2023
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  17. 17
    An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants

    An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants por Bruce Nmezi, Guillermo Rodríguez Bey, Talia DeFrancesco Oranburg, Kseniia Dudnyk, Santana M. Lardo, Nathan Herdman, Anastasia M. Jacko, Sandy Rubio, Emanuel Loeza-Alcocer, Julia Kofler, Dongkyeong Kim, Julia Rankin, Emma Kivuva, Nicholas J. Gutowski, Katherine Schon, Jelle van den Ameele, Patrick F. Chinnery, Sérgio B. Sousa, Filipe Palavra, Camilo Toro, Filippo Pinto e Vairo, Jonas Alex Morales Saute, Lisa Pan, Murad Alturkustani, Robert Hammond, François Gros‐Louis, Michael Gold, Yungki Park, Geneviève Bernard, Raili Raininko, Jian Zhou, Sarah J. Hainer, Quasar Saleem Padiath

    Publicado 2025
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  18. 18
    Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

    Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing por Karen Stals, Matthew N. Wakeling, Júlia Baptista, Richard Caswell, Andrew Parrish, Julia Rankin, Carolyn Tysoe, Garan Jones, Adam C. Gunning, Hana Lango Allen, Lisa Bradley, Angela F. Brady, Helena Carley, Jenny Carmichael, Bruce Castle, Deirdre Cilliers, Helen Cox, Charu Deshpande, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Andrew E. Fry, Alan Fryer, Muriel Holder, Tessa Homfray, Emma Kivuva, Victoria McKay, Ruth Newbury‐Ecob, Michael Parker, Ravi Savarirayan, Claire Searle, Nora Shannon, Deborah Shears, Sarah Smithson, Ellen Thomas, Peter D. Turnpenny, Vinod Varghese, Pradeep Vasudevan, Emma Wakeling, Emma L. Baple, Sian Ellard

    Publicado 2017
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  19. 19
    Detailed Analysis of <scp><i>ITPR1</i></scp> Missense Variants Guides Diagnostics and Therapeutic Design

    Detailed Analysis of <scp><i>ITPR1</i></scp> Missense Variants Guides Diagnostics and Therapeutic Design por Jussi‐Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon J. McGowan, David Sims, Meriel McEntagart, Frances Elmslie, Debbie Shears, Helen Stewart, George K. Tofaris, Tabib Dabir, Patrick J. Morrison, Diana Johnson, Marios Hadjivassiliou, Sian Ellard, Charles Shaw‐Smith, Anna Znaczko, Abhijit Dixit, Mohnish Suri, Ajoy Sarkar, Rachel Harrison, Gabriela Jones, Henry Houlden, G Ceravolo, Joanna Jarvis, Jonathan Williams, Morag Shanks, Penny Clouston, Julia Rankin, Lubov Blumkin, Tally Lerman‐Sagie, Penina Ponger, Salmo Raskin, Katariina Granath, Johanna Uusimaa, Hector Conti, Emma McCann, Shelagh Joss, Alexander J. M. Blakes, Kay Metcalfe, Helen Kingston, M. Bertoli, Rachel Kneen, Sally Ann Lynch, Inmaculada Martínez Albaladejo, Austen Peter Moore, Wendy D. Jones, Esther B. E. Becker, Andrea H. Németh

    Publicado 2023
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  20. 20
    PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

    PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature por Margot R.F. Reijnders, Robert Janowski, Mohsan Alvi, Jay Self, Ton J van Essen, Maaike Vreeburg, Rob P.W. Rouhl, Servi J.C. Stevens, Alexander P.A. Stegmann, Jolanda Schieving, Rolph Pfundt, Katinke van Dijk, Eric J. Smeets, Connie T. R. M. Stumpel, Levinus A. Bok, Jan Maarten Cobben, Marc Engelen, Sahar Mansour, Margo Whiteford, Kate Chandler, Sofia Douzgou, Nicola Cooper, Ene‐Choo Tan, Roger Foo, Angeline Lai, Julia Rankin, Andrew Green, Tuula Lönnqvist, Pirjo Isohanni, Shelley Williams, Ilene S. Ruhoy, Karen S. Carvalho, James J. Dowling, Dorit Lev, Katalin Štěrbová, Petra Laššuthová, Jana Neupauerová, Jeff L. Waugh, Sotirios Keros, Jill Clayton‐Smith, Sarah Smithson, Han G. Brunner, Ceciel van Hoeckel, Mel Anderson, Virginia E. Clowes, Victoria Mok Siu, the DDD study, Paulo Selber, Richard J. Leventer, Christoffer Nellåker, Dierk Niessing, David Hunt, Diana Baralle

    Publicado 2017
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