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E Schwinger

Showing results (171-180 of 213) with videos related to

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European Journal of Human Genetics : EJHG|April 21, 2001
Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxiaC Zühlke, Y Hellenbroich, A Dalski, et al.
Journal of Neurology|December 14, 2004
FMR1 premutation as a rare cause of late onset ataxia--evidence for FXTAS in female carriersCh Zühlke, A Budnik, U Gehlken, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 18, 2004
Coincidence of a large SCA12 repeat allele with a case of Creutzfeld-Jacob diseaseY Hellenbroich, W Schulz-Schaeffer, M F Nitschke, et al.
American Journal of Human Genetics|October 1, 1992
The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533Y Li, B Müller, C Fuhrmann, et al.
Journal of Medical Genetics|July 1, 1994
"Compensatory" uniparental disomy of chromosome 21 in two casesO Bartsch, M B Petersen, I Stuhlmann, et al.
Human Genetics|September 1, 1993
Molecular analysis in patients with mucopolysaccharidosis type II suggests that DXS466 maps within the Hunter geneC Steglich, S Bunge, T Hulsebos, et al.
Human Genetics|January 1, 1985
Recurrent mutation pressure does not explain the prevalence of the marker (X) syndromeF Vogel, J Krüger, K B Nielsen, et al.
Genomics|March 15, 1994
Mapping of the autosomal dominant exudative vitreoretinopathy locus (EVR1) by multipoint linkage analysis in four familiesB Müller, U Orth, C E van Nouhuys, et al.
Clinical Genetics|March 1, 1996
Jumping translocation in a phenotypically normal femaleC L von Ballestrem, M G Boavida, C Zuther, et al.
Prenatal Diagnosis|January 1, 1987
First trimester diagnosis of Rho (D) with an immunofluorescence technique after chorionic villus samplingH C Fuhrman, F Klink, G Grzejszczyk, et al.
Pageof 22

Showing results (171-180 of 213) with videos related to

Sort By:
Pageof 22
European Journal of Human Genetics : EJHG|April 21, 2001
Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxiaC Zühlke, Y Hellenbroich, A Dalski, et al.
Journal of Neurology|December 14, 2004
FMR1 premutation as a rare cause of late onset ataxia--evidence for FXTAS in female carriersCh Zühlke, A Budnik, U Gehlken, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 18, 2004
Coincidence of a large SCA12 repeat allele with a case of Creutzfeld-Jacob diseaseY Hellenbroich, W Schulz-Schaeffer, M F Nitschke, et al.
American Journal of Human Genetics|October 1, 1992
The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533Y Li, B Müller, C Fuhrmann, et al.
Journal of Medical Genetics|July 1, 1994
"Compensatory" uniparental disomy of chromosome 21 in two casesO Bartsch, M B Petersen, I Stuhlmann, et al.
Human Genetics|September 1, 1993
Molecular analysis in patients with mucopolysaccharidosis type II suggests that DXS466 maps within the Hunter geneC Steglich, S Bunge, T Hulsebos, et al.
Human Genetics|January 1, 1985
Recurrent mutation pressure does not explain the prevalence of the marker (X) syndromeF Vogel, J Krüger, K B Nielsen, et al.
Genomics|March 15, 1994
Mapping of the autosomal dominant exudative vitreoretinopathy locus (EVR1) by multipoint linkage analysis in four familiesB Müller, U Orth, C E van Nouhuys, et al.
Clinical Genetics|March 1, 1996
Jumping translocation in a phenotypically normal femaleC L von Ballestrem, M G Boavida, C Zuther, et al.
Prenatal Diagnosis|January 1, 1987
First trimester diagnosis of Rho (D) with an immunofluorescence technique after chorionic villus samplingH C Fuhrman, F Klink, G Grzejszczyk, et al.
Pageof 22