Výsledky vyhledávání - Saghira Malik-Sharif

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  1. 1
    Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances

    Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances Autor Verity Hartill, Katarzyna Szymańska, Saghira Malik Sharif, Gabrielle Wheway, Colin A. Johnson

    Vydáno 2017
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    Revisão
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  2. 2
    Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain

    Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain Autor Stella Zhang, Saghira Malik Sharif, Ya‐Chun Chen, Enza Maria Valente, Mushtaq Ahmed, Eamonn Sheridan, Christopher Bennett, Geoffrey Woods

    Vydáno 2016
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    Artigo
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  3. 3
    A family with Papillon-Lefèvre syndrome reveals a requirement for cathepsin C in granzyme B activation and NK cell cytolytic activity

    A family with Papillon-Lefèvre syndrome reveals a requirement for cathepsin C in granzyme B activation and NK cell cytolytic activity Autor Josephine Meade, Erika A. de Wynter, Peter Brett, Saghira Malik Sharif, C. Geoffrey Woods, Alexander F. Markham, Graham P. Cook

    Vydáno 2006
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    Artigo
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  4. 4
    Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies

    Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies Autor Katarzyna Szymańska, Ian Berry, Clare V. Logan, Simon RR Cousins, Helen Lindsay, Hussain Jafri, Yasmin Raashid, Saghira Malik-Sharif, Bruce Castle, Mushtag Ahmed, Chris Bennett, Ruth Carlton, Colin A. Johnson

    Vydáno 2012
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    Artigo
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  5. 5
    Human ASPM participates in spindle organisation, spindle orientation and cytokinesis

    Human ASPM participates in spindle organisation, spindle orientation and cytokinesis Autor J. William Higgins, Carol Midgley, Anna-Maria Bergh, Sandra Bell, Jonathan Askham, Emma Roberts, Ruth K Binns, Saghira Malik Sharif, Christopher Bennett, David M. Glover, C. Geoffrey Woods, Ewan E. Morrison, Jacquelyn Bond

    Vydáno 2010
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    Artigo
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  6. 6
    Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome

    Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome Autor C. Geoffrey Woods, Sigmar Stricker, Petra Seemann, Rowena Stern, James J. Cox, E. Sherridan, Emma Roberts, Kelly Springell, Simon Scott, Gulshan Karbani, Saghira Malik Sharif, Carmel Toomes, Jacquelyn Bond, Dheeraj Kumar, Lihadh Al‐Gazali, Stefan Mundlos

    Vydáno 2006
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    Artigo
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  7. 7
    Quantification of Homozygosity in Consanguineous Individuals with Autosomal Recessive Disease

    Quantification of Homozygosity in Consanguineous Individuals with Autosomal Recessive Disease Autor C. Geoffrey Woods, James J. Cox, Kelly Springell, Daniel J. Hampshire, Moin Mohamed, Martin McKibbin, Rowena Stern, F. Lucy Raymond, Richard Sandford, Saghira Malik Sharif, Gulshan Karbani, Mustaq Ahmed, Jacquelyn Bond, David Clayton, Chris F. Inglehearn

    Vydáno 2006
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    Artigo
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  8. 8
    Fine-scale population structure and demographic history of British Pakistanis

    Fine-scale population structure and demographic history of British Pakistanis Autor Elena Arciero, Sufyan Abid Dogra, Daniel Malawsky, Massimo Mezzavilla, Theofanis Tsismentzoglou, Qin Qin Huang, Karen A. Hunt, Dan Mason, Saghira Malik Sharif, David A. van Heel, Eamonn Sheridan, John Wright, Neil Small, Shai Carmi, Mark M. Iles, Hilary C. Martin

    Vydáno 2021
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  9. 9
    Influence of autozygosity on common disease risk across the phenotypic spectrum

    Influence of autozygosity on common disease risk across the phenotypic spectrum Autor Daniel Malawsky, Eva van Walree, Benjamin Meir Jacobs, Teng Hiang Heng, Qin Huang, Ataf Sabir, Saadia Rahman, Saghira Malik Sharif, Ahsan Khan, Maša Umićević Mirkov, Hiroyuki Kuwahara, Xin Gao, Fowzan S. Alkuraya, Daniëlle Posthuma, William G. Newman, Chris Griffiths, Rohini Mathur, David A. van Heel, Sarah Finer, Jared O’Connell, Hilary C. Martin

    Vydáno 2023
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  10. 10
    Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus

    Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus Autor Jeong Ho Lee, Jennifer L. Silhavy, Ji Eun Lee, Lihadh Al‐Gazali, Sophie Thomas, Erica E. Davis, Stephanie Bielas, Kiley J. Hill, Miriam Iannicelli, Francesco Brancati, Stacey Gabriel, Carsten Russ, Clare V. Logan, Saghira Malik Sharif, Christopher Bennett, Masumi Abe, Friedhelm Hildebrandt, Bill H. Diplas, Tania Attié‐Bitach, Nicholas Katsanis, Anna Rajab, Roshan Koul, László Sztriha, Elizabeth R. Waters, Susan Ferro‐Novick, C. Geoffrey Woods, Colin A. Johnson, Enza Maria Valente, Maha S. Zaki, Joseph G. Gleeson

    Vydáno 2012
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    Artigo
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  11. 11
    Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report

    Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report Autor Hanan Hamamy, Stylianos E. Antonarakis, Luigi Luca Cavalli-Sforza, Samia A. Temtamy, G. Cara Romeo, Leo P. ten Kate, Robin L. Bennett, Alison Shaw, André Mégarbané, Cornelia M. van Duijn, Heli Bathija, Siv Fokstuen, Eric Engel, Joël Zlotogora, Emmanouil T. Dermitzakis, Armand Bottani, Sophie Dahoun, Michael A. Morris, Steve Arsenault, Mona Aglan, Mubasshir Ajaz, Ayad Alkalamchi, Dhekra Alnaqeb, Mohamed K. Alwasiyah, Nawfal Anwer, Rawan I. Awwad, Melissa Bonnefin, Michael Corry, Lorraine Gwanmesia, Gulshan Karbani, Maryam Mostafavi, Tommaso Pippucci, Emmanuelle Ranza-Boscardin, Bruno Reversade, Saghira Malik Sharif, Marieke Teeuw, A.H. Bittles

    Vydáno 2011
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    Artigo
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  12. 12
    Disrupted visual attention relates to cognitive development in infants with Neurofibromatosis Type 1

    Disrupted visual attention relates to cognitive development in infants with Neurofibromatosis Type 1 Autor Jannath Begum Ali, Luke Mason, Tony Charman, Mark H. Johnson, Jonathan Green, Shruti Garg, Emily J. Jones, Mary Agyapong, Tessel Bazelmans, Leila Dafner, Mutluhan Ersoy, Teodora Gliga, Amy Goodwin, Rianne Haartsen, Hanna Halkola, Alexandra Hendry, Rebecca Holman, Sarah Kalwarowsky, Anna Kolesnik, Sarah Lloyd‐Fox, Nisha Narvekar, Laura Pirazzoli, Chloë Taylor, Grace Vassallo, Emma Burkitt‐Wright, Judith Eelloo, D. Gareth Evans, Siobhan West, Eileen Hupton, Lauren Lewis, Louise Robinson, Angus Dobbie, Ruth Drimer, Saghira Malik Sharif, Rachel Jones, Susan Musson, Catherine Prem, Miranda Splitt, Karen Horridge, Diana Baralle, Carolyn Redman, Helen Tomkins

    Vydáno 2025
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  13. 13
    Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy

    Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy Autor Christine P. Diggle, Stacey J. Sukoff Rizzo, Michael Popiolek, Reetta Hinttala, Jan-Philip Schülke, Manju A. Kurian, Ian Carr, Alexander F. Markham, David T. Bonthron, Christopher M. Watson, Saghira Malik Sharif, Veronica Reinhart, Larry C. James, Michelle Vanase‐Frawley, Erik I. Charych, Melanie Allen, John F. Harms, Christopher J. Schmidt, Joanne Ng, Karen Pysden, Christine A. Strick, Päivi Vieira, Katariina Mankinen, Hannaleena Kokkonen, Matti Kallioinen, Raija Sormunen, Juha O. Rinne, Jarkko Johansson, Kati Alakurtti, Laura Huilaja, Tiina Hurskainen, Kaisa Tasanen, Eija Anttila, Tiago Reis Marques, Oliver Howes, Marius Politis, Somayyeh Fahiminiya, Khanh Q. Nguyen, Jacek Majewski, Johanna Uusimaa, Eamonn Sheridan, Nicholas J. Brandon

    Vydáno 2016
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  14. 14
    Blarcamesine for the treatment of Early Alzheimer's Disease: Results from the ANAVEX2-73-AD-004 Phase IIB/III trial

    Blarcamesine for the treatment of Early Alzheimer's Disease: Results from the ANAVEX2-73-AD-004 Phase IIB/III trial Autor Stephen Macfarlane, Timo Grimmer, Ken Teo, Terence J. O’Brien, Mark Woodward, Jennifer Grunfeld, Alastair Mander, Amy Brodtmann, Bruce Brew, Philip Morris, C Short, Susan Kurrle, Rosalyn Lai, Sneha Bharadwaj, Peter Drysdale, Jonathan Sturm, Simon J.G. Lewis, Dávid Barton, Chris Kalafatis, Saghira Malik Sharif, Richard Perry, Nicholas Mannering, Josephine Emer MacSweeney, Stephen Pearson, Craig Evans, Vivek Krishna, Alex Thompson, Malathy Munisamy, Neel S. Bhatt, Aliya Asher, Samuel Connell, Jennifer A. Lynch, Sterre Malou Rutgers, P. L. J. Dautzenberg, Niels D. Prins, Patrick Oschmann, Lutz Froelich, Paweł Tacik, Oliver Peters, Jens Wiltfang, Alexandre Henri‐Bhargava, Eric E. Smith, Stephen Pasternak, Andrew Frank, Howard Chertkow, J. David Ingram, Ging‐Yuek Robin Hsiung, Robert S. Brittain, Maria Carmela Tartaglia, Sharon Cohen, Luca M. Villa, Elizabeth Gordón, Thomas Jubault, Nicolas Guizard, A. Tucker, Walter E. Kaufmann, Kun Jin, William R Chezem, Christopher U. Missling, Marwan N. Sabbagh

    Vydáno 2025
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