Ngā hua rapu - Paul M. Fernhoff
- E whakaatu ana i te 1 - 4 hua o te 4
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1
Diagnosis of Fabry Disease via Analysis of Family History mā Dawn A. Laney, Paul M. Fernhoff
I whakaputaina 2008Artigo -
2
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability mā 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
I whakaputaina 2010Artigo -
3
Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase mā 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
I whakaputaina 2012Artigo -
4
Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes mā 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
I whakaputaina 2011Artigo
Ngā utauta rapu:
Ngā marau whai pānga
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