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U Orth

Showing results (11-20 of 40) with videos related to

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American Journal of Medical Genetics|July 12, 1996
New X-linked mental retardation syndrome with the gene mapped tentatively in Xp22.3B Wittwer, R Kircheisen, J Leutelt, et al.
Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde|September 1, 1993
[Molecular genetic diagnosis of Wiskott-Aldrich syndrome]U Orth, W Rosenkranz, E Schwinger, et al.
Nature Genetics|May 1, 1994
Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindnessA Gal, U Orth, W Baehr, et al.
European Journal of Pediatrics|June 27, 2000
Disseminated cytomegalovirus infection as initial manifestation of hyper-IgM syndrome in a 15-month-old boyM Benesch, A Pfleger, E Eber, et al.
Human Molecular Genetics|September 1, 1994
X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32U Orth, N Fairweather, M C Exler, et al.
Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete|September 8, 2006
[Anhidrotic ectodermal dysplasia (Christ-Siemens-Touraine-Syndrom)]S Eigelshoven, H-G Lenard, U Orth, et al.
American Journal of Medical Genetics|August 22, 1997
Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the traitS M Gu, U Orth, M Zankl, et al.
International Journal of Legal Medicine|March 31, 2000
Sudden death due to cerebrotendinous xanthomatosis confirmed by mutation analysisJ P Sperhake, J Matschke, U Orth, et al.
Zeitschrift Fur Kardiologie|December 1, 2000
[Indirect genotype analysis as a diagnostic procedure in Marfan syndrome]B M Laudahn, P Gyürüs, U Orth, et al.
American Journal of Medical Genetics|May 3, 1996
Short stature in a mother and daughter with terminal deletion of Xp22.3E Schwinger, M Kirschstein, M Greiwe, et al.
Pageof 4

Showing results (11-20 of 40) with videos related to

Sort By:
Pageof 4
American Journal of Medical Genetics|July 12, 1996
New X-linked mental retardation syndrome with the gene mapped tentatively in Xp22.3B Wittwer, R Kircheisen, J Leutelt, et al.
Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde|September 1, 1993
[Molecular genetic diagnosis of Wiskott-Aldrich syndrome]U Orth, W Rosenkranz, E Schwinger, et al.
Nature Genetics|May 1, 1994
Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindnessA Gal, U Orth, W Baehr, et al.
European Journal of Pediatrics|June 27, 2000
Disseminated cytomegalovirus infection as initial manifestation of hyper-IgM syndrome in a 15-month-old boyM Benesch, A Pfleger, E Eber, et al.
Human Molecular Genetics|September 1, 1994
X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32U Orth, N Fairweather, M C Exler, et al.
Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete|September 8, 2006
[Anhidrotic ectodermal dysplasia (Christ-Siemens-Touraine-Syndrom)]S Eigelshoven, H-G Lenard, U Orth, et al.
American Journal of Medical Genetics|August 22, 1997
Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the traitS M Gu, U Orth, M Zankl, et al.
International Journal of Legal Medicine|March 31, 2000
Sudden death due to cerebrotendinous xanthomatosis confirmed by mutation analysisJ P Sperhake, J Matschke, U Orth, et al.
Zeitschrift Fur Kardiologie|December 1, 2000
[Indirect genotype analysis as a diagnostic procedure in Marfan syndrome]B M Laudahn, P Gyürüs, U Orth, et al.
American Journal of Medical Genetics|May 3, 1996
Short stature in a mother and daughter with terminal deletion of Xp22.3E Schwinger, M Kirschstein, M Greiwe, et al.
Pageof 4