نتائج البحث - David Markie

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  1. 1
    Mutations in DVL1 Cause an Osteosclerotic Form of Robinow Syndrome

    Mutations in DVL1 Cause an Osteosclerotic Form of Robinow Syndrome حسب Kieran J. Bunn, Phil Daniel, Heleen S. Rösken, Adam C. O’Neill, Sophia Cameron‐Christie, Tim Morgan, Han G. Brunner, Angeline Lai, Henricus P. M. Kunst, David Markie, Stephen P. Robertson

    منشور في 2015
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  2. 2
    Germline mutations and somatic inactivation of TRIM28 in Wilms tumour

    Germline mutations and somatic inactivation of TRIM28 in Wilms tumour حسب Benjamin J. Halliday, Ryuji Fukuzawa, David Markie, Richard G. Grundy, Jackie L. Ludgate, Michael A. Black, Jane Skeen, Robert J. Weeks, Daniel Catchpoole, Aedan Roberts, Anthony E. Reeve, Ian M. Morison

    منشور في 2018
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  3. 3
    A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions

    A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions حسب Verity F. Oliver, Katherine van Bysterveldt, Murray Cadzow, Bernhard Steger, Vito Romano, David Markie, Alex W. Hewitt, David A. Mackey, Colin E. Willoughby, Trevor Sherwin, Philip S. Crosier, Charles N. J. McGhee, Andrea L. Vincent

    منشور في 2016
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  4. 4
    A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration

    A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration حسب Adam C. O’Neill, Christina Kyrousi, Johannes Klaus, Richard J. Leventer, Edwin P. Kirk, Andrew E. Fry, Daniela T. Pilz, Tim Morgan, Zandra A. Jenkins, Micha Drukker, Samuel F. Berkovic, Ingrid E. Scheffer, Renzo Guerrini, David Markie, Magdalena Götz, Silvia Cappello, Stephen P. Robertson

    منشور في 2018
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  5. 5
    Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases

    Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases حسب Richard S. Houlston, Steve Bevan, Alison C. Williams, Joanne Young, Malcolm G. Dunlop, Paul Rozen, Charis Eng, David Markie, K Woodford-Richens, Miguel A. Rodrı́guez-Bigas, Barbara Leggett, Kay Neale, R Phillips, E. Sheridan, Shirley Hodgson, Takeo Iwama∥, Diana Eccles, Walter F. Bodmer, I. Tomlinson

    منشور في 1998
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  6. 6
    Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3.

    Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3. حسب Sylviane Olschwang, David Markie, S. Seal, Kay Neale, Rita J. S. Phillips, S Cottrell, Ian O. Ellis, Shirley Hodgson, Peter Zauber, AD Spigelman, Takeo Iwama∥, Steffan Loff, C. McKeown, Cristiana Marchese, Jeffrey R. Sampson, Sally Davies, I C Talbot, J A Wyke, Gilles Thomas, Walter F. Bodmer, Akseli Hemminki, Egle Avizienyte, Albert de la Chapelle, Lauri A. Aaltonen, Ian Tomlinson

    منشور في 1998
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  7. 7
    Mutations in the netrin-1 gene cause congenital mirror movements

    Mutations in the netrin-1 gene cause congenital mirror movements حسب Aurélie Méneret, Elizabeth A. Franz, Oriane Trouillard, Thomas Oliver, Yvrick Zagar, Stephen P. Robertson, Quentin Welniarz, R. J. M. Gardner, Cécile Gallea, Myriam Srour, Christel Depienne, Christine L. Jasoni, Caroline Dubacq, Florence Riant, Jean‐Charles Lamy, Marie‐Pierre Morel, Raphaël Guérois, Jessica Andréani, Coralie Fouquet, Mohamed Doulazmi, Marie Vidailhet, Guy A. Rouleau, Alexis Brice, Alain Chédotal, Isabelle Dusart, Emmanuel Roze, David Markie

    منشور في 2017
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  8. 8
    Germline Mutations in BMPR1A/ALK3 Cause a Subset of Cases of Juvenile Polyposis Syndrome and of Cowden and Bannayan-Riley-Ruvalcaba Syndromes*

    Germline Mutations in BMPR1A/ALK3 Cause a Subset of Cases of Juvenile Polyposis Syndrome and of Cowden and Bannayan-Riley-Ruvalcaba Syndromes* حسب Xiaoping Zhou, K Woodford-Richens, Rainer Lehtonen, Keisuke Kurose, Micheala A. Aldred, Heather Hampel, Virpi Launonen, Sanno Virta, Robert Pilarski, Reijo Salovaara, Walter F. Bodmer, Beth A. Conrad, Malcolm G. Dunlop, Shirley V. Hodgson, Takeo Iwama∥, Heikki Järvinen, Ilmo Kellokumpu, J‐H Kim, Barbara Leggett, David Markie, Jukka‐Pekka Mecklin, Kay Neale, Robin Phillips, J Piris, Paul Rozen, Richard S. Houlston, Lauri A. Aaltonen, Ian Tomlinson, Charis Eng

    منشور في 2001
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  9. 9
    Analysis of genetic and phenotypic heterogeneity in juvenile polyposis

    Analysis of genetic and phenotypic heterogeneity in juvenile polyposis حسب K Woodford-Richens, Steve Bevan, Michael Churchman, B L Dowling, Daniel Jones, C. Gail Norbury, Shirley Hodgson, Devendra Desai, Kay Neale, R K S Phillips, Joanne Young, Barbara Leggett, Malcolm G. Dunlop, Paul Rozen, Charis Eng, David Markie, Miguel A. Rodrı́guez-Bigas, E. Sheridan, Takeo Iwama∥, Diana Eccles, G. T. Smith, Jin Cheon Kim, Kyung Mo Kim, Julian R. Sampson, D. Gareth Evans, Sabine Tejpar, Walter F. Bodmer, Ian Tomlinson, Richard S. Houlston

    منشور في 2000
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  10. 10
    Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype

    Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype حسب Emma M. Wade, Zandra A. Jenkins, Philip B. Daniel, Tim Morgan, Marie Claude Addor, Lesley C. Adès, Débora Romeo Bertola, Axel Bohring, Erin Carter, Tae‐Joon Cho, Christa M. de Geus, Hans‐Christoph Duba, Elaine Fletcher, Kinga Hadzsiev, Raoul C. M. Hennekam, Chong Ae Kim, Deborah Krakow, Éva Morava, Teresa Neuhann, David O. Sillence, Andrea Superti‐Furga, Hermine E. Veenstra‐Knol, Dagmar Wieczorek, Louise C. Wilson, David Markie, Stephen P. Robertson

    منشور في 2017
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  11. 11
    Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

    Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia حسب Emma M. Wade, Philip B. Daniel, Zandra A. Jenkins, Aideen M. McInerney‐Leo, Paul Leo, Tim Morgan, Marie Claude Addor, Lesley C. Adès, Débora Romeo Bertola, Axel Bohring, Erin Carter, Tae‐Joon Cho, Hans-Christoph Duba, Elaine Fletcher, Chong Ae Kim, Deborah Krakow, Éva Morava, Teresa Neuhann, Andrea Superti‐Furga, Irma Veenstra-Knol, Dagmar Wieczorek, Louise C. Wilson, Raoul C. M. Hennekam, Andrew J. Sutherland‐Smith, Tim M. Strom, Andrew O.M. Wilkie, Matthew A. Brown, Emma L. Duncan, David Markie, Stephen P. Robertson

    منشور في 2016
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  12. 12
    Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis

    Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis حسب Eugene D. Carstea, Jill A. Morris, Katherine Coleman, Stacie K. Loftus, Dana Zhang, Christiano Cummings, Jessie Gu, Melissa A. Rosenfeld, William J. Pavan, David B. Krizman, James W. Nagle, Mihail H. Polymeropoulos, Stephen L. Sturley, Yiannis A. Ioannou, Maureen E. Higgins, Marcella Comly, Adele Cooney, Anthony Brown, Christine R. Kaneski, E. Joan Blanchette‐Mackie, Nancy K. Dwyer, Edward B. Neufeld, Ta‐Yuan Chang, Laura Liscum, Jerome F. Strauss, Kousaku Ohno, Marsha Zeigler, Rivka Carmi, Jacob Sokol, David Markie, Raymond O’Neill, O. P. van Diggelen, M. Elleder, Marc C. Patterson, Roscoe O. Brady, Marie T. Vanier, Peter G. Pentchev, Danilo A. Tagle

    منشور في 1997
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  13. 13
    WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

    WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features حسب Cara Skraban, Constance Wells, Preetha Markose, Megan T. Cho, Addie I. Nesbitt, Ping Yee Billie Au, Amber Begtrup, John Bernat, Lynne M. Bird, Kajia Cao, Arjan P.M. de Brouwer, Elizabeth Denenberg, Ganka Douglas, Kristin McDonald Gibson, Katheryn Grand, Alice Goldenberg, A. Micheil Innes, Jane Juusola, Marlies Kempers, Esther Kinning, David Markie, Martina Owens, Katelyn Payne, Richard Person, Rolph Pfundt, Amber Stocco, Claire Turner, Nienke E. Verbeek, Laurence E. Walsh, Taylor Warner, Patricia G. Wheeler, Dagmar Wieczorek, Alisha Wilkens, Evelien Zonneveld‐Huijssoon, Tjitske Kleefstra, Stephen P. Robertson, Avni Santani, Koen L.I. van Gassen, Matthew A. Deardorff

    منشور في 2017
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  14. 14
    A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

    A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome حسب Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, Jessica Cannavino, Matthew F. Rose, Nicole M. Gilette, Pietro Artoni, Nara Sobreira, Wai‐Man Chan, Bryn D. Webb, Caroline D. Robson, Long Cheng, Carol Van Ryzin, Andres Ramirez-Martinez, Payam Mohassel, Mark Leppert, Mary Beth Scholand, Christopher Grunseich, Carlos R. Ferreira, Tyler Hartman, Ian Hayes, Tim Morgan, David Markie, Michela Fagiolini, Amy J. Swift, Peter S. Chines, Carlos E. Speck‐Martins, Francis S. Collins, Ethylin Wang Jabs, Carsten G. Bönnemann, Eric N. Olson, Caroline Andrews, Brenda J. Barry, David G. Hunter, Sarah MacKinnon, Sherin Shaaban, Mónica Erazo, Tamiesha Frempong, Ke Hao, Thomas P. Naidich, Janet C. Rucker, Zhongyang Zhang, Barbara B. Biesecker, Lori L. Bonnycastle, Carmen C. Brewer, Brian P. Brooks, John A. Butman, Wade W. Chien, Kathleen Farrell, Edmond J. FitzGibbon, Andrea Gropman, Elizabeth Hutchinson, Minal S. Jain, Kelly King, Tanya Lehky, Janice Lee, Denise K. Liberton, Narisu Narisu, Scott M. Paul, Neda Sadeghi, Joseph Snow, Beth Solomon, Angela C. Summers, Camilo Toro, Audrey Thurm, Christopher Zalewski, John C. Carey, Stephen P. Robertson, Irini Manoli, Elizabeth C. Engle

    منشور في 2017
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