Αποτελέσματα αναζήτησης - Anand Saggar

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  1. 1
    FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome

    FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome από Anas M. Alazami, Ranad Shaheen, Fatema Alzahrani, Katie Snape, Anand Saggar, Bernd Brinkmann, Prashant Bavi, L.I. Al-Gazali, Fowzan S. Alkuraya

    Έκδοση 2009
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  2. 2
    De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

    De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome από Wendy D. Jones, Dimitra Dafou, Meriel McEntagart, Wesley J. Woollard, Frances Elmslie, Muriel Holder‐Espinasse, Melita Irving, Anand Saggar, Sarah Smithson, Richard C. Trembath, Charu Deshpande, Michael A. Simpson

    Έκδοση 2012
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  3. 3
    Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals

    Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals από Mira Kharbanda, Daniela T. Pilz, Susan Tomkins, Kate Chandler, Anand Saggar, Alan Fryer, Victoria McKay, Pedro Louro, Jill Smith, John Burn, Usha Kini, Anna de Burca, David Fitzpatrick, Esther Kinning

    Έκδοση 2016
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  4. 4
    Sirolimus Therapy in Tuberous Sclerosis or Sporadic Lymphangioleiomyomatosis

    Sirolimus Therapy in Tuberous Sclerosis or Sporadic Lymphangioleiomyomatosis από D. M. Davies, Simon R. Johnson, Anne E. Tattersfield, J.C. Kingswood, Jane A. Cox, Deborah L. McCartney, Timothy C. Doyle, Frances Elmslie, Anand Saggar, Petrus J. de Vries, Julian R. Sampson

    Έκδοση 2008
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Carta
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  5. 5
    Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling

    Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling από Elen Griffith, Sarah Walker, Carol-Anne Martin, Paola Vagnarelli, Tom Stiff, Bertrand Vernay, Nouriya Al Sanna, Anand Saggar, Ben C.J. Hamel, William C. Earnshaw, Penny A. Jeggo, Andrew P. Jackson, Mark O’Driscoll

    Έκδοση 2007
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  6. 6
    X-linked cataract and Nance-Horan syndrome are allelic disorders

    X-linked cataract and Nance-Horan syndrome are allelic disorders από Margherita Coccia, Simon P. Brooks, Tom R. Webb, Katja Christodoulou, Izabella O. Wozniak, Victoria Murday, Martha Balicki, Harris A. Yee, Teresia Wangensteen, Ruth Riise, Anand Saggar, Soo‐Mi Park, Naheed Kanuga, Peter J. Francis, Eamonn R. Maher, Anthony T. Moore, Isabelle Russell‐Eggitt, Alison J. Hardcastle

    Έκδοση 2009
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  7. 7
    Homozygous mutations in <scp><i>VAMP</i></scp><i>1</i> cause a presynaptic congenital myasthenic syndrome

    Homozygous mutations in <scp><i>VAMP</i></scp><i>1</i> cause a presynaptic congenital myasthenic syndrome από Vincenzo Salpietro, Weichun Lin, Andrea Delle Vedove, Markus Storbeck, Yun Liu, Stéphanie Efthymiou, Andreea Manole, Sarah Wiethoff, Qiaohong Ye, Anand Saggar, Kenneth McElreavey, Shyam S. Krishnakumar, Matthew Pitt, Oscar D. Bello, James E. Rothman, Lina Basel‐Vanagaite, Monika Weisz Hubshman, Sharon Aharoni, Adnan Y. Manzur, Brunhilde Wirth, Henry Houlden

    Έκδοση 2017
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  8. 8
    DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome

    DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome από I. Slade, Chiara Bacchelli, H. Davies, Anne R. Murray, Fatemeh Abbaszadeh, Sandra Hanks, Rita Barfoot, A Burke, Julia Chisholm, Martin Hewitt, Helen Jenkinson, D. King, Bruce Morland, Barry Pizer, Katrina Prescott, Anand Saggar, Lucy Side, Heidi Traunecker, Sucheta Vaidya, Patricia A. Ward, PA Futreal, Gordan Vujanić, Andrew G. Nicholson, Neil J. Sebire, Clare Turnbull, John R. Priest, Kathy Pritchard‐Jones, Richard S. Houlston, Charles Stiller, Michael R. Stratton, Jenny Douglas, Nazneen Rahman

    Έκδοση 2011
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  9. 9
    Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A

    Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A από Eyal Reinstein, Sophia Frentz, Tim Morgan, Sixto García‐Miñaúr, Richard J. Leventer, George McGillivray, Mitchel Pariani, Anthony van der Steen, Michael Pope, Muriel Holder‐Espinasse, Richard H. Scott, Elizabeth M. Thompson, Terry Robertson, Brian Coppin, Robert J. Siegel, Montserrat Bret Zurita, José Ignacio Rodrı́guez, Carmen del Rocío Monedero Morales, Yuri Blanc Rodrigues, Joaquín Arcas, Anand Saggar, Margaret A. Horton, Elaine H. Zackai, John M. Graham, David L. Rimoin, Stephen P. Robertson

    Έκδοση 2012
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  10. 10
    Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

    Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly από Diana Alcantara, Andrew E. Timms, Karen W. Gripp, Laura Baker, Kaylee Park, Sarah Collins, Chi Vicky Cheng, Fiona Stewart, Sarju Mehta, Anand Saggar, László Sztriha, Melinda Zombor, Oana Caluseriu, Ronit Mesterman, Margot I. Van Allen, Adeline Jacquinet, Sofia Ygberg, Jonathan A. Bernstein, Aaron M. Wenger, Harendra Guturu, Gill Bejerano, Natalia Gomez‐Ospina, Anna Lehman, Enrico Alfei, Chiara Pantaleoni, Valerio Conti, Renzo Guerrini, Ute Moog, John M. Graham, Robert F. Hevner, William B. Dobyns, Mark O’Driscoll, Ghayda Mirzaa

    Έκδοση 2017
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  11. 11
    Mutations in the human laminin β2 (LAMB2) gene and the associated phenotypic spectruma

    Mutations in the human laminin β2 (LAMB2) gene and the associated phenotypic spectruma από Verena Matejas, Bernward Hinkes, Faisal Alkandari, Lihadh Al‐Gazali, E. Annexstad, Mehmet Baha Aytaç, Margaret Barrow, Květa Bláhová, Detlef Böckenhauer, Hae Il Cheong, Iwona Maruniak‐Chudek, Pierre Cochat, Jörg Dötsch, Priya Gajjar, Raoul C. M. Hennekam, Françoise Janssen, Mikhail Kagan, Ariana Kariminejad, Markus J. Kemper, Jens Koenig, Jillene Kogan, Hester Y. Kroes, Eberhard Kuwertz-Bröking, Amy Feldman Lewanda, Ana Medeira, Jutta Muscheites, Patrick Niaudet, Michel Pierson, Anand Saggar, Laurie Seaver, Mohnish Suri, А.Н. Цыгин, Elke Wühl, Aleksandra Żurowska, Steffen Uebe, Friedhelm Hildebrandt, Corinne Antignac, Martin Zenker

    Έκδοση 2010
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Revisão
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  12. 12
    Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

    Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy από Carol-Anne Martin, Ilyas Ahmad, Anna Klingseisen, Muhammad Sajid Hussain, Louise S. Bicknell, Andrea Leitch, Gudrun Nürnberg, Mohammad R. Toliat, Jennie Murray, David Hunt, Fawad Khan, Zafar Ali, Sigrid Tinschert, James Ding, Charlotte Keith, Margaret E Harley, Patricia Heyn, Rolf Müller, Ingrid Hoffmann, Valérie Cormier‐Daire, Hélène Dollfus, Lucie Dupuis, Anu Bashamboo, Kenneth McElreavey, Ariana Kariminejad, Roberto Mendoza‐Londono, Anthony T. Moore, Anand Saggar, Catie Schlechter, Richard G. Weleber, Hölger Thiele, Janine Altmüller, Wolfgang Höhne, Matthew E. Hurles, Angelika A. Noegel, Shahid Mahmood Baig, Peter Nürnberg, Andrew P. Jackson

    Έκδοση 2014
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  13. 13
    De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

    De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes από Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak, Margaret Beddaoui, Diana Alcantara, Robert L. Conway, Judith St‐Onge, Jeremy Schwartzentruber, Karen W. Gripp, Sarah M. Nikkel, Thea Worthylake, Christopher T. Sullivan, Thomas Ward, Hailly E Butler, Nancy Kramer, Beate Albrecht, Christine M. Armour, Linlea Armstrong, Oana Caluseriu, Cheryl Cytrynbaum, Beth A. Drolet, A. Micheil Innes, Julie Lauzon, Angela E. Lin, Grazia M.S. Mancini, Wendy S. Meschino, James D. Reggin, Anand Saggar, Tally Lerman‐Sagie, Gökhan Uyanık, Rosanna Weksberg, Birgit Zirn, Chandree L. Beaulieu, Jacek Majewski, Dennis E. Bulman, Mark O’Driscoll, Jay Shendure, John M. Graham, Kym M. Boycott, William B. Dobyns

    Έκδοση 2012
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  14. 14
    Urinary Tract Effects of HPSE2 Mutations

    Urinary Tract Effects of HPSE2 Mutations από Helen M. Stuart, Neil Roberts, Emma Hilton, Edward A. McKenzie, Sarah B. Daly, Kristen D. Hadfield, Jeffery S. Rahal, Natalie J. Gardiner, S.W.M. Tanley, Malcolm Lewis, Emily Sites, Brad Angle, Cláudia Alves, Teresa Lourenço, Márcia Rodrigues, Angelina Calado, Marta Perapoch Amadó, Nancy Guerreiro, Inês Serras, Christian Beetz, Rita-Eva Varga, Mesrur Selçuk Sılay, John M. Darlow, Mark G. Dobson, David Barton, Manuela Hunziker, Prem Puri, Sally Feather, Judith A. Goodship, Timothy H.J. Goodship, H Lambert, Heather J. Cordell, Anand Saggar, Maria Kinali, Christian Lorenz, Kristina Moeller, Franz Schaefer, Aysun Karabay Bayazıt, Stefanie Weber, William G. Newman, Adrian S. Woolf

    Έκδοση 2014
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  15. 15
    The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants

    The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants από Ana Rio‐Machín, Tom Vulliamy, Nele Hug, Amanda J. Walne, Kiran Tawana, Shirleny Cardoso, Alicia Ellison, Nikolas Pontikos, Jun Wang, Hemanth Tummala, Ahad Al Seraihi, Jenna Alnajar, Findlay Bewicke‐Copley, Hannah Armes, Michael J. Barnett, Adrian Bloor, Csaba Bödör, David Bowen, Pierre Fenaux, Andrew Green, Andrew R. Hallahan, Henrik Hjorth‐Hansen, Upal Hossain, Sally Killick, Sarah Lawson, Mark Layton, Alison Male, Judith Marsh, Priyanka Mehta, Rogier Mous, Josep Nomdedéu, Carolyn Owen, Jiří Pavlů, Elspeth Payne, Rachel Protheroe, Claude Preudhomme, Núria Pujol‐Moix, Aline Renneville, Nigel H. Russell, Anand Saggar, Gabriela Sciuccati, David Taussig, Cynthia L. Toze, Anne Uyttebroeck, Peter Vandenberghe, Brigitte Schlegelberger, Tim Ripperger, Doris Steinemann, John K. Wu, Joanne Mason, Paula Page, Susanna Akiki, Kim Reay, Jamie Cavenagh, Vincent Plagnol, Javier F. Cáceres, Jude Fitzgibbon, Inderjeet Dokal

    Έκδοση 2020
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  16. 16
    Not all <i>SCN1A</i> epileptic encephalopathies are Dravet syndrome

    Not all <i>SCN1A</i> epileptic encephalopathies are Dravet syndrome από Lynette G. Sadleir, Emily Mountier, Deepak Gill, Suzanne L. Davis, Charuta Joshi, Catherine DeVile, Manju A. Kurian, Simone Mandelstam, Elaine Wirrell, Katherine Nickels, Hema Murali, Gemma L. Carvill, Candace T. Myers, Heather C. Mefford, Ingrid E. Scheffer, A. Paul Bevan, Abhijit Dixit, Abigail Pridham, Adrian R. Tivey, Ajoy Sarkar, Alan Donaldson, Alan Fryer, Alejandro Sifrim, Alex Henderson, Alex Magee, Alexis E. Duncan, Alison Kraus, Alison Male, Alison Ross, Amanda Collins, Anand Saggar, Andrea Coates, Andrea H. Németh, Andrew E. Fry, Andrew Green, A. Jackson, Andrew Norman, Angela Barnicoat, Angela Brady, Angela Douglas, Angus Clarke, Angus Dobbie, Ann Selby, Anna Middleton, Anne Lampe, A Seller, Annie Procter, Karenza Evans, Anthony Vandersteen, Astrid Weber, Audrey Smith, Audrey Torokwa, Beckie Kaemba, Becky Treacy, Beiyuan Fu, Ben Hutton, Birgitta Bernhard, Bronwyn Kerr, Bruce Castle, Carina Donnelly, Carol Gardiner, Clare L. Scott, Carole Brewer, Caroline F. Wright, Caroline Langman, Caroline Mackie Ogilvie, Caroline Pottinger, Carolyn Tysoe, Cat Taylor, Catherine McWilliam, Charles Shaw‐Smith, Charu Deshpande, Cheryl Longman, Cheryl Sequeira, Chirag Patel, Chris Bennett, Chris Nellåker, Christopher Wragg, Claire Kirk, Claire Turner, Daniel A. King, Daniel M. Barrett, Daniel Perrett, Daniela T. Pilz, Danielle Walker, David Baty, David Bohanna, David Bourn, David Goudie, David J. Bunyan, David Jones, David Moore, David Fitzpatrick, David Fitzpatrick, Debbie Rice, Debbie Shears, Deirdre Cilliers, Deirdre Donnelly, Denise Williams, Derek Lim

    Έκδοση 2017
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:

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