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Salim Aftimos

Showing results (41-50 of 55) with videos related to

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American Journal of Medical Genetics. Part A|June 5, 2003
Further delineation of the phenotype associated with heterozygous mutations in ZFHX1BMeredith Wilson, David Mowat, Florence Dastot-Le Moal, et al.
American Journal of Human Genetics|April 9, 2011
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesisPleasantine Mill, Paul J Lockhart, Elizabeth Fitzpatrick, et al.
European Journal of Medical Genetics|January 3, 2013
A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial featuresElise Boudry-Labis, Bénédicte Demeer, Cédric Le Caignec, et al.
Nature Genetics|March 8, 2011
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone lossMichael A Simpson, Melita D Irving, Esra Asilmaz, et al.
Pediatric Research|September 27, 2005
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndromeDeborah A McDermott, Michael C Bressan, Jie He, et al.
Annals of Neurology|September 22, 2007
Molecular consequences of dominant Bethlem myopathy collagen VI mutationsNaomi L Baker, Matthias Mörgelin, Rishika A Pace, et al.
Nature Genetics|March 3, 2004
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesisDeborah Krakow, Stephen P Robertson, Lily M King, et al.
American Journal of Medical Genetics. Part A|July 13, 2006
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversityStephen P Robertson, Zandra A Jenkins, Timothy Morgan, et al.
Nature Genetics|March 2, 2011
Mutations in the pre-replication complex cause Meier-Gorlin syndromeLouise S Bicknell, Ernie M H F Bongers, Andrea Leitch, et al.
Human Mutation|November 3, 2011
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrumSandra Whalen, Delphine Héron, Thierry Gaillon, et al.
Pageof 6

Showing results (41-50 of 55) with videos related to

Sort By:
Pageof 6
American Journal of Medical Genetics. Part A|June 5, 2003
Further delineation of the phenotype associated with heterozygous mutations in ZFHX1BMeredith Wilson, David Mowat, Florence Dastot-Le Moal, et al.
American Journal of Human Genetics|April 9, 2011
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesisPleasantine Mill, Paul J Lockhart, Elizabeth Fitzpatrick, et al.
European Journal of Medical Genetics|January 3, 2013
A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial featuresElise Boudry-Labis, Bénédicte Demeer, Cédric Le Caignec, et al.
Nature Genetics|March 8, 2011
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone lossMichael A Simpson, Melita D Irving, Esra Asilmaz, et al.
Pediatric Research|September 27, 2005
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndromeDeborah A McDermott, Michael C Bressan, Jie He, et al.
Annals of Neurology|September 22, 2007
Molecular consequences of dominant Bethlem myopathy collagen VI mutationsNaomi L Baker, Matthias Mörgelin, Rishika A Pace, et al.
Nature Genetics|March 3, 2004
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesisDeborah Krakow, Stephen P Robertson, Lily M King, et al.
American Journal of Medical Genetics. Part A|July 13, 2006
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversityStephen P Robertson, Zandra A Jenkins, Timothy Morgan, et al.
Nature Genetics|March 2, 2011
Mutations in the pre-replication complex cause Meier-Gorlin syndromeLouise S Bicknell, Ernie M H F Bongers, Andrea Leitch, et al.
Human Mutation|November 3, 2011
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrumSandra Whalen, Delphine Héron, Thierry Gaillon, et al.
Pageof 6