Torthaí cuardaigh - David S. Wargowski
- 1 - 4 toradh as 4 á dtaispeáint
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Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome de réir Jürgen Kohlhase, Peter E.M. Taschner, Peter Burfeind, Bastian Pasche, William G. Newman, Christopher Blanck, Martijn H. Breuning, Leo P. ten Kate, P. D. Maaswinkel-Mooy, Beate Mitulla, Jörg Seidel, Susan J. Kirkpatrick, Richard M. Pauli, David S. Wargowski, Koenraad Devriendt, Willem Proesmans, Orazio Gabrielli, Giovanni V. Coppa, Eveline Wesby–van Swaay, Richard C. Trembath, Albert Schinzel, William Reardon, E Seemanová, Wolfgang Engel
Foilsithe / Cruthaithe 1999Artigo -
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Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology de réir Gabrielle R. Wilson, Joe C.H. Sim, Catriona McLean, Maila Giannandrea, Charles A. Galea, Jessica R. Riseley, Sarah Stephenson, Elizabeth Fitzpatrick, Stefan A. Haas, Kate Pope, Kirk J. Hogan, Ronald G. Gregg, Catherine J. Bromhead, David S. Wargowski, Christopher Lawrence, Paul A. James, Andrew Churchyard, Yujing Gao, Dean Phelan, Greta Gillies, Nicholas Salce, Lynn Stanford, Ashley P.L. Marsh, Maria Lidia Mignogna, Susan J. Hayflick, Richard J. Leventer, Martin B. Delatycki, George D. Mellick, Vera M. Kalscheuer, Patrizia D’Adamo, Melanie Bahlo, David J. Amor, Paul J. Lockhart
Foilsithe / Cruthaithe 2014Artigo -
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Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome de réir David A. Dyment, Anne O’Donnell‐Luria, Pankaj B. Agrawal, Zeynep Coban‐Akdemir, Kyrieckos A. Aleck, Danny Antaki, Hind Al Sharhan, Ping Yee Billie Au, Hatip Aydın, Alan H. Beggs, Kaya Bilgüvar, Eric Boerwinkle, Harrison Brand, Catherine A. Brownstein, Steven Buyske, Bernard Chodirker, Jungmin Choi, Albert E. Chudley, Carol L. Clericuzio, Gerald F. Cox, Cynthia J. Curry, Elke de Boer, Bert B.A. de Vries, Kathryn Dunn, Cullen M. Dutmer, Eleina England, Jill A. Fahrner, Bilgen Bilge Geçkinli, Casie A. Genetti, Alper Gezdirici, William T. Gibson, Joseph G. Gleeson, Cheryl R. Greenberg, April Hall, Ada Hamosh, Taila Hartley, Shalini N. Jhangiani, Ender Karaca, Kristin D. Kernohan, Julie Lauzon, M. E. Suzanne Lewis, R. Brian Lowry, Francesc López‐Giráldez, Tara C. Matise, Jennifer McEvoy‐Venneri, Brenda McInnes, Aziz Mhanni, Sixto García Miñaúr, Jukka S. Moilanen, An Nguyen, Małgorzata J.M. Nowaczyk, Jennifer E. Posey, Katrin Õunap, Davut Pehli̇van, Sander Pajusalu, Lynette S. Penney, Timothy Poterba, Paolo Prontera, Maria Juliana Rodovalho Doriqui, Sarah L. Sawyer, Nara Sobreira, Valentina Stanley, Deniz Torun, David S. Wargowski, P. Dane Witmer, Isaac Wong, Jinchuan Xing, Maha S. Zaki, Yeting Zhang, Kym M. Boycott, Michael J. Bamshad, Deborah A. Nickerson, Elizabeth Blue, A. Micheil Innes
Foilsithe / Cruthaithe 2020Artigo
Uirlisí cuardaigh:
Ábhair a bhaineann le hábhar
Biology
Gene
Genetics
Phenotype
Medicine
Missense mutation
Mutation
Alpha-synuclein
Body mass index
Copy-number variation
Disease
Disease gene identification
Exome sequencing
Genetic heterogeneity
Genome
Internal medicine
Locus (genetics)
Loss function
Neuroscience
Nonsense mutation
Obesity
Overweight
Parkinson's disease
Parkinsonism
Pathogenesis
Pathology
Pediatrics
Physiology
Snacking
Substantia nigra