H Eiberg - JoVE Visualize

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Clinical Genetics|June 24, 2011

Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9)H Eiberg, L Hansen, L Korbo, et al.

Journal of Medical Genetics|February 1, 1990

An exclusion map of Marfan syndromeS H Blanton, M Sarfarazi, H Eiberg, et al.

Hepatology (Baltimore, Md.)|November 28, 2000

A missense mutation in FIC1 is associated with greenland familial cholestasisL W Klomp, L N Bull, A S Knisely, et al.

The Journal of Biological Chemistry|November 7, 1998

Cloning of a human UDP-N-acetyl-alpha-D-Galactosamine:polypeptide N-acetylgalactosaminyltransferase that complements other GalNAc-transferases in complete O-glycosylation of the MUC1 tandem repeatE P Bennett, H Hassan, U Mandel, et al.

Clinical Genetics|July 11, 2012

Genetic heterogeneity in Pakistani microcephaly familiesM Sajid Hussain, S Marriam Bakhtiar, M Farooq, et al.

Ugeskrift for Laeger|April 15, 2000

[Epidermolysis bullosa simplex: genotype-phenotype correlation in Danish patients]C B Sørensen, A S Ladekjaer-Mikkelsen, B S Andresen, et al.

The Journal of Investigative Dermatology|February 16, 1999

Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotypeC B Sørensen, A S Ladekjaer-Mikkelsen, B S Andresen, et al.

Diabetes|April 1, 1997

Novel MODY3 mutations in the hepatocyte nuclear factor-1alpha gene: evidence for a hyperexcitability of pancreatic beta-cells to intravenous secretagogues in a glucose-tolerant carrier of a P447L mutationT Hansen, H Eiberg, M Rouard, et al.

Diabetologia|September 11, 2007

Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the youngS Ellard, K Thomas, E L Edghill, et al.

European Journal of Neurology|January 26, 2005

Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutationJ E Nielsen, B Johnsen, P Koefoed, et al.

Pageof 11

Showing results (91-100 of 102) with videos related to

Sort By:

Pageof 11

Clinical Genetics|June 24, 2011

Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9)H Eiberg, L Hansen, L Korbo, et al.

Journal of Medical Genetics|February 1, 1990

An exclusion map of Marfan syndromeS H Blanton, M Sarfarazi, H Eiberg, et al.

Hepatology (Baltimore, Md.)|November 28, 2000

A missense mutation in FIC1 is associated with greenland familial cholestasisL W Klomp, L N Bull, A S Knisely, et al.

The Journal of Biological Chemistry|November 7, 1998

Cloning of a human UDP-N-acetyl-alpha-D-Galactosamine:polypeptide N-acetylgalactosaminyltransferase that complements other GalNAc-transferases in complete O-glycosylation of the MUC1 tandem repeatE P Bennett, H Hassan, U Mandel, et al.

Clinical Genetics|July 11, 2012

Genetic heterogeneity in Pakistani microcephaly familiesM Sajid Hussain, S Marriam Bakhtiar, M Farooq, et al.

Ugeskrift for Laeger|April 15, 2000

[Epidermolysis bullosa simplex: genotype-phenotype correlation in Danish patients]C B Sørensen, A S Ladekjaer-Mikkelsen, B S Andresen, et al.

The Journal of Investigative Dermatology|February 16, 1999

Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotypeC B Sørensen, A S Ladekjaer-Mikkelsen, B S Andresen, et al.

Diabetes|April 1, 1997

Novel MODY3 mutations in the hepatocyte nuclear factor-1alpha gene: evidence for a hyperexcitability of pancreatic beta-cells to intravenous secretagogues in a glucose-tolerant carrier of a P447L mutationT Hansen, H Eiberg, M Rouard, et al.

Diabetologia|September 11, 2007

Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the youngS Ellard, K Thomas, E L Edghill, et al.

European Journal of Neurology|January 26, 2005

Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutationJ E Nielsen, B Johnsen, P Koefoed, et al.

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