L van Maldergem - JoVE Visualize

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Diabetologia|February 1, 1993

Patients with lipodystrophic diabetes mellitus of the Seip-Berardinelli type, express normal insulin receptorsE R van der Vorm, A Kuipers, J W Bonenkamp, et al.

Acta Paediatrica (Oslo, Norway : 1992). Supplement|June 1, 1996

Genetics of the Berardinelli-Seip syndrome (congenital generalized lipodystrophy) in Norway: epidemiology and gene mapping. Berardinelli-Seip Study GroupT Gedde-Dahl, O Trygstad, L Van Maldergem, et al.

Cellular and Molecular Life Sciences : CMLS|June 21, 2006

Thiamine pyrophosphate: an essential cofactor for the alpha-oxidation in mammals--implications for thiamine deficiencies?M Sniekers, V Foulon, G P Mannaerts, et al.

Journal of Medical Genetics|October 7, 2004

Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded malesV Cantagrel, A-M Lossi, S Boulanger, et al.

American Journal of Medical Genetics|October 1, 1988

Severe congenital cutis laxa with pulmonary emphysema: a family with three affected sibsL Van Maldergem, E Vamos, I Liebaers, et al.

European Journal of Pediatrics|February 1, 2000

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblingsL Van Maldergem, D Tuerlinckx, R J Wanders, et al.

Genome Research|November 1, 1996

Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mappingD L Thiselton, R M Hampson, M Nayudu, et al.

The Biochemical Journal|May 1, 1995

Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationshipsJ Bonaventure, L Cohen-Solal, P Ritvaniemi, et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry|August 22, 2006

Funtional characterization of four novel MAN2B1 mutations causing juvenile onset alpha-mannosidosisM G Pittis, A L E Montalvo, P Heikinheimo, et al.

Nature Genetics|November 4, 2000

Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann diseaseK Janssens, R Gershoni-Baruch, N Guañabens, et al.

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Showing results (51-60 of 91) with videos related to

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Pageof 10

Diabetologia|February 1, 1993

Patients with lipodystrophic diabetes mellitus of the Seip-Berardinelli type, express normal insulin receptorsE R van der Vorm, A Kuipers, J W Bonenkamp, et al.

Acta Paediatrica (Oslo, Norway : 1992). Supplement|June 1, 1996

Genetics of the Berardinelli-Seip syndrome (congenital generalized lipodystrophy) in Norway: epidemiology and gene mapping. Berardinelli-Seip Study GroupT Gedde-Dahl, O Trygstad, L Van Maldergem, et al.

Cellular and Molecular Life Sciences : CMLS|June 21, 2006

Thiamine pyrophosphate: an essential cofactor for the alpha-oxidation in mammals--implications for thiamine deficiencies?M Sniekers, V Foulon, G P Mannaerts, et al.

Journal of Medical Genetics|October 7, 2004

Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded malesV Cantagrel, A-M Lossi, S Boulanger, et al.

American Journal of Medical Genetics|October 1, 1988

Severe congenital cutis laxa with pulmonary emphysema: a family with three affected sibsL Van Maldergem, E Vamos, I Liebaers, et al.

European Journal of Pediatrics|February 1, 2000

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblingsL Van Maldergem, D Tuerlinckx, R J Wanders, et al.

Genome Research|November 1, 1996

Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mappingD L Thiselton, R M Hampson, M Nayudu, et al.

The Biochemical Journal|May 1, 1995

Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationshipsJ Bonaventure, L Cohen-Solal, P Ritvaniemi, et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry|August 22, 2006

Funtional characterization of four novel MAN2B1 mutations causing juvenile onset alpha-mannosidosisM G Pittis, A L E Montalvo, P Heikinheimo, et al.

Nature Genetics|November 4, 2000

Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann diseaseK Janssens, R Gershoni-Baruch, N Guañabens, et al.

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