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W Reardon

Showing results (121-130 of 166) with videos related to

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Journal of Medical Genetics|December 1, 1994
Close linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologically normal and abnormal familiesM Bitner-Glindzicz, Y de Kok, D Summers, et al.
American Journal of Human Genetics|January 23, 1999
Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypesM Tassabehji, K Metcalfe, A Karmiloff-Smith, et al.
Nature Genetics|February 1, 1995
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypesP Rutland, L J Pulleyn, W Reardon, et al.
Nature Genetics|May 20, 1998
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosisD J Shears, H J Vassal, F R Goodman, et al.
Irish Journal of Medical Science|June 4, 2008
Pregnancy and perinatal outcomes after assisted reproduction: a comparative studyC Allen, S Bowdin, R F Harrison, et al.
Nature Genetics|November 1, 1994
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndromeM Muenke, U Schell, A Hehr, et al.
Human Molecular Genetics|November 1, 1995
The mutational spectrum in Waardenburg syndromeM Tassabehji, V E Newton, X Z Liu, et al.
Clinical Dysmorphology|August 5, 1998
Frontonasal dysplasia with optic disc anomalies and other midline craniofacial defects: a report of six casesM M Lees, P Hodgkins, W Reardon, et al.
Journal of Medical Genetics|September 3, 2004
SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanismW Borozdin, D Boehm, M Leipoldt, et al.
Nature|February 6, 1992
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophyH G Harley, J D Brook, S A Rundle, et al.
Pageof 17

Showing results (121-130 of 166) with videos related to

Sort By:
Pageof 17
Journal of Medical Genetics|December 1, 1994
Close linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologically normal and abnormal familiesM Bitner-Glindzicz, Y de Kok, D Summers, et al.
American Journal of Human Genetics|January 23, 1999
Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypesM Tassabehji, K Metcalfe, A Karmiloff-Smith, et al.
Nature Genetics|February 1, 1995
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypesP Rutland, L J Pulleyn, W Reardon, et al.
Nature Genetics|May 20, 1998
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosisD J Shears, H J Vassal, F R Goodman, et al.
Irish Journal of Medical Science|June 4, 2008
Pregnancy and perinatal outcomes after assisted reproduction: a comparative studyC Allen, S Bowdin, R F Harrison, et al.
Nature Genetics|November 1, 1994
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndromeM Muenke, U Schell, A Hehr, et al.
Human Molecular Genetics|November 1, 1995
The mutational spectrum in Waardenburg syndromeM Tassabehji, V E Newton, X Z Liu, et al.
Clinical Dysmorphology|August 5, 1998
Frontonasal dysplasia with optic disc anomalies and other midline craniofacial defects: a report of six casesM M Lees, P Hodgkins, W Reardon, et al.
Journal of Medical Genetics|September 3, 2004
SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanismW Borozdin, D Boehm, M Leipoldt, et al.
Nature|February 6, 1992
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophyH G Harley, J D Brook, S A Rundle, et al.
Pageof 17