Výsledky vyhledávání - Paul M. Fernhoff
- Zobrazuji výsledky 1 - 4 z 4
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1
Diagnosis of Fabry Disease via Analysis of Family History Autor Dawn A. Laney, Paul M. Fernhoff
Vydáno 2008Artigo -
2
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability Autor Andrés Moreno-De-Luca, S. L. Helmers, Hui Mao, Thomas G. Burns, A. M. A. Melton, Karen Russell Schmidt, Paul M. Fernhoff, D H Ledbetter, Christa Lese Martin
Vydáno 2010Artigo -
3
Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase Autor Ari Zimran, Gregory M. Pastores, Anna Tylki‐Szymańska, Derralynn Hughes, Deborah Elstein, Rebecca Mardach, Christine M. Eng, Laurie D. Smith, Margaret A. Heisel‐Kurth, Joel Charrow, Paul Harmatz, Paul M. Fernhoff, William J. Rhead, Nicola Longo, Pilar Giraldo, Juan Ruiz, David M. Zahrieh, Eric Crombez, Gregory A. Grabowski
Vydáno 2012Artigo -
4
Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes Autor Zhishuo Ou, Paweł Stankiewicz, Zhilian Xia, Amy M. Breman, Brian Dawson, Joanna Wiszniewska, Przemysław Szafrański, M. Lance Cooper, Mitchell Rao, Lina Shao, Sarah T. South, Karlene Coleman, Paul M. Fernhoff, Marcel J. Deray, Sally Rosengren, Elizabeth Roeder, Victoria B. Enciso, A. Craig Chinault, Ankita Patel, Sung-Hae L. Kang, Chad A. Shaw, James R. Lupski, Sau Wai Cheung
Vydáno 2011Artigo
Vyhledávací nástroje:
Související témata
Biology
Genetics
Internal medicine
Medicine
Pediatrics
Disease
Enzyme replacement therapy
Gene
Adverse effect
Cerebral palsy
Chromosomal translocation
Computational biology
Fabry disease
Fabry's disease
Family history
Genetic counseling
Homologous recombination
Intellectual disability
Lysosomal storage disease
Microcephaly
Mutation
Non-homologous end joining
Pathology
Pedigree chart
Physical medicine and rehabilitation
Proband
Psychiatry
Public health
Receptor
Signal transducing adaptor protein