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I Hausser

Showing results (31-40 of 65) with videos related to

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American Journal of Medical Genetics|May 7, 2002
Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndromeC Giunta, L Nuytinck, M Raghunath, et al.
The British Journal of Dermatology|July 22, 2014
Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergiesC Has, T Jakob, Y He, et al.
The British Journal of Dermatology|September 20, 2014
Two novel mutations in the LOR gene in three families with loricrin keratodermaA Hotz, E Bourrat, I Hausser, et al.
European Journal of Human Genetics : EJHG|January 15, 1999
Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from NorwayM Pigg, T Gedde-Dahl, D Cox, et al.
Annals of Neurology|August 26, 1998
Ultrastructural connective tissue abnormalities in patients with spontaneous cervicocerebral artery dissectionsT Brandt, I Hausser, E Orberk, et al.
The British Journal of Dermatology|October 13, 2006
A novel ABCA12 mutation 3270delT causes harlequin ichthyosisM Akiyama, K Sakai, G Wolff, et al.
The British Journal of Dermatology|January 29, 2011
Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosisM J Arin, V Oji, S Emmert, et al.
The British Journal of Dermatology|February 13, 2001
Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous tripletsE J Nordal, S Mecklenbeck, I Hausser, et al.
The British Journal of Dermatology|March 20, 2014
Novel mutation in the CLDN1 gene in a Turkish family with neonatal ichthyosis sclerosing cholangitis (NISCH) syndromeP Kirchmeier, E Sayar, A Hotz, et al.
Neurology|April 14, 2004
Alpha-1-antitrypsin deficiency alleles are not associated with cervical artery dissectionsC Grond-Ginsbach, S Engelter, I Werner, et al.
Pageof 7

Showing results (31-40 of 65) with videos related to

Sort By:
Pageof 7
American Journal of Medical Genetics|May 7, 2002
Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndromeC Giunta, L Nuytinck, M Raghunath, et al.
The British Journal of Dermatology|July 22, 2014
Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergiesC Has, T Jakob, Y He, et al.
The British Journal of Dermatology|September 20, 2014
Two novel mutations in the LOR gene in three families with loricrin keratodermaA Hotz, E Bourrat, I Hausser, et al.
European Journal of Human Genetics : EJHG|January 15, 1999
Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from NorwayM Pigg, T Gedde-Dahl, D Cox, et al.
Annals of Neurology|August 26, 1998
Ultrastructural connective tissue abnormalities in patients with spontaneous cervicocerebral artery dissectionsT Brandt, I Hausser, E Orberk, et al.
The British Journal of Dermatology|October 13, 2006
A novel ABCA12 mutation 3270delT causes harlequin ichthyosisM Akiyama, K Sakai, G Wolff, et al.
The British Journal of Dermatology|January 29, 2011
Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosisM J Arin, V Oji, S Emmert, et al.
The British Journal of Dermatology|February 13, 2001
Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous tripletsE J Nordal, S Mecklenbeck, I Hausser, et al.
The British Journal of Dermatology|March 20, 2014
Novel mutation in the CLDN1 gene in a Turkish family with neonatal ichthyosis sclerosing cholangitis (NISCH) syndromeP Kirchmeier, E Sayar, A Hotz, et al.
Neurology|April 14, 2004
Alpha-1-antitrypsin deficiency alleles are not associated with cervical artery dissectionsC Grond-Ginsbach, S Engelter, I Werner, et al.
Pageof 7