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S Schuffenhauer

Showing results (31-40 of 45) with videos related to

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Prenatal Diagnosis|September 1, 1996
Cytogenetic and age-dependent risk factors associated with uniparental disomy 15W P Robinson, S Langlois, S Schuffenhauer, et al.
American Journal of Medical Genetics|July 31, 2001
Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomesD Kamnasaran, P C O'Brien, S Schuffenhauer, et al.
Journal of Medical Genetics|October 1, 1993
Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinismA Meindl, D Hosenfeld, W Brückl, et al.
Nature Genetics|August 1, 1996
A common region of 10p deleted in DiGeorge and velocardiofacial syndromesS C Daw, C Taylor, M Kraman, et al.
Journal of Medical Genetics|October 1, 1993
High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotypeD F Callen, H Eyre, S Lane, et al.
Human Genetics|November 1, 1995
DNA, FISH and complementation studies in ICF syndrome: DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factorS Schuffenhauer, O Bartsch, M Stumm, et al.
Molecular Cell|July 14, 1998
FRA10B structure reveals common elements in repeat expansion and chromosomal fragile site genesisD R Hewett, O Handt, L Hobson, et al.
American Journal of Human Genetics|July 27, 1999
Multiplex-FISH for pre- and postnatal diagnostic applicationsS Uhrig, S Schuffenhauer, C Fauth, et al.
American Journal of Medical Genetics|October 16, 1996
Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differencesJ Mitchell, A Schinzel, S Langlois, et al.
Clinical Genetics|June 14, 2000
Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15W P Robinson, S L Christian, B D Kuchinka, et al.
Pageof 5

Showing results (31-40 of 45) with videos related to

Sort By:
Pageof 5
Prenatal Diagnosis|September 1, 1996
Cytogenetic and age-dependent risk factors associated with uniparental disomy 15W P Robinson, S Langlois, S Schuffenhauer, et al.
American Journal of Medical Genetics|July 31, 2001
Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomesD Kamnasaran, P C O'Brien, S Schuffenhauer, et al.
Journal of Medical Genetics|October 1, 1993
Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinismA Meindl, D Hosenfeld, W Brückl, et al.
Nature Genetics|August 1, 1996
A common region of 10p deleted in DiGeorge and velocardiofacial syndromesS C Daw, C Taylor, M Kraman, et al.
Journal of Medical Genetics|October 1, 1993
High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotypeD F Callen, H Eyre, S Lane, et al.
Human Genetics|November 1, 1995
DNA, FISH and complementation studies in ICF syndrome: DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factorS Schuffenhauer, O Bartsch, M Stumm, et al.
Molecular Cell|July 14, 1998
FRA10B structure reveals common elements in repeat expansion and chromosomal fragile site genesisD R Hewett, O Handt, L Hobson, et al.
American Journal of Human Genetics|July 27, 1999
Multiplex-FISH for pre- and postnatal diagnostic applicationsS Uhrig, S Schuffenhauer, C Fauth, et al.
American Journal of Medical Genetics|October 16, 1996
Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differencesJ Mitchell, A Schinzel, S Langlois, et al.
Clinical Genetics|June 14, 2000
Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15W P Robinson, S L Christian, B D Kuchinka, et al.
Pageof 5