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E Schwinger

Showing results (141-150 of 213) with videos related to

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Prenatal Diagnosis|March 4, 2000
Rapid detection of expansions by PCR and non-radioactive hybridization: application for prenatal diagnosis of myotonic dystrophyC Zühlke, J Atici, L Martorell, et al.
Human Reproduction (Oxford, England)|October 21, 1999
Genetic sonography as the preferred option of prenatal diagnosis in patients with pregnancies following intracytoplasmic sperm injectionA Geipel, U Gembruch, M Ludwig, et al.
Cytogenetics and Cell Genetics|November 4, 2000
Assignment of transcription factor NFAT5 to human chromosome 16q22.1, murine chromosome 8D and porcine chromosome 6p1.4 and comparison of the polyglutamine domainsA Hebinck, A Dalski, H Engel, et al.
Human Molecular Genetics|October 1, 1994
Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD)S Fuchs, C O Sarde, H Wedemann, et al.
German Journal of Ophthalmology|January 1, 1995
Autosomal dominant exudative vitreoretinopathy: linkage analysis and its clinical applicationC Fuhrmann, C Duvigneau, B Müller, et al.
Chest|April 1, 1993
Left ventricular outflow tract obstruction following repair of pneumococcal mitral annular abscessR Charney, M E Schwinger, R Brodman, et al.
Human Molecular Genetics|February 1, 1994
Gene for autosomal dominant congenital stationary night blindness maps to the same region as the gene for the beta-subunit of the rod photoreceptor cGMP phosphodiesterase (PDEB) in chromosome 4p16.3A Gal, S Xu, Y Piczenik, et al.
American Journal of Medical Genetics|September 1, 1992
Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type IIM Beck, C Steglich, B Zabel, et al.
Human Mutation|January 1, 1995
Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome)E Popowska, M Rathmann, A Tylki-Szymanska, et al.
Neurology|September 15, 2005
Oculogyric dystonic states in early-onset parkinsonism with basal ganglia calcificationsB Kis, K Hedrich, M Kann, et al.
Pageof 22

Showing results (141-150 of 213) with videos related to

Sort By:
Pageof 22
Prenatal Diagnosis|March 4, 2000
Rapid detection of expansions by PCR and non-radioactive hybridization: application for prenatal diagnosis of myotonic dystrophyC Zühlke, J Atici, L Martorell, et al.
Human Reproduction (Oxford, England)|October 21, 1999
Genetic sonography as the preferred option of prenatal diagnosis in patients with pregnancies following intracytoplasmic sperm injectionA Geipel, U Gembruch, M Ludwig, et al.
Cytogenetics and Cell Genetics|November 4, 2000
Assignment of transcription factor NFAT5 to human chromosome 16q22.1, murine chromosome 8D and porcine chromosome 6p1.4 and comparison of the polyglutamine domainsA Hebinck, A Dalski, H Engel, et al.
Human Molecular Genetics|October 1, 1994
Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD)S Fuchs, C O Sarde, H Wedemann, et al.
German Journal of Ophthalmology|January 1, 1995
Autosomal dominant exudative vitreoretinopathy: linkage analysis and its clinical applicationC Fuhrmann, C Duvigneau, B Müller, et al.
Chest|April 1, 1993
Left ventricular outflow tract obstruction following repair of pneumococcal mitral annular abscessR Charney, M E Schwinger, R Brodman, et al.
Human Molecular Genetics|February 1, 1994
Gene for autosomal dominant congenital stationary night blindness maps to the same region as the gene for the beta-subunit of the rod photoreceptor cGMP phosphodiesterase (PDEB) in chromosome 4p16.3A Gal, S Xu, Y Piczenik, et al.
American Journal of Medical Genetics|September 1, 1992
Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type IIM Beck, C Steglich, B Zabel, et al.
Human Mutation|January 1, 1995
Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome)E Popowska, M Rathmann, A Tylki-Szymanska, et al.
Neurology|September 15, 2005
Oculogyric dystonic states in early-onset parkinsonism with basal ganglia calcificationsB Kis, K Hedrich, M Kann, et al.
Pageof 22