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Dorothea Haas

Showing results (1-10 of 63) with videos related to

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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 28, 2010
Abnormal sterol metabolism in holoprosencephalyDorothea Haas, Maximilian Muenke
Orphanet Journal of Rare Diseases|May 26, 2006
Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndromeDorothea Haas, Georg F Hoffmann
American Journal of Medical Genetics. Part A|March 28, 2013
Prenatal presentation and diagnostic evaluation of suspected Smith-Lemli-Opitz (RSH) syndromeDorothea Haas, Gisela Haege, Georg F Hoffmann, et al.
Pediatrics|May 31, 2017
Amyloidosis Cutis Dyschromica, a Rare Cause of Hyperpigmentation: A New Case and Literature ReviewOya Kuseyri, Dorothea Haas, Nina Lang, et al.
Biofactors (Oxford, England)|December 20, 2008
Plasma and thrombocyte levels of coenzyme Q10 in children with Smith-Lemli-Opitz syndrome (SLOS) and the influence of HMG-CoA reductase inhibitorsDorothea Haas, Petra Niklowitz, Georg F Hoffmann, et al.
Pediatric Neurology|October 12, 2010
A novel missense mutation in a neonate with nonketotic hyperglycinemiaSascha Meyer, Cécile Acquaviva, Mohammed Ghiath Shamdeen, et al.
IUBMB Life|February 1, 2011
Ubiquinol-induced gene expression signatures are translated into altered parameters of erythropoiesis and reduced low density lipoprotein cholesterol levels in humansConstance Schmelzer, Petra Niklowitz, Jürgen G Okun, et al.
Acta Dermato-Venereologica|January 8, 2008
Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysisAnnette Kolb-Mäurer, Karl-Heinz Grzeschik, Dorothea Haas, et al.
Journal of Lipid Research|November 22, 2013
A highly sensitive method for analysis of 7-dehydrocholesterol for the study of Smith-Lemli-Opitz syndromeWei Liu, Libin Xu, Connor Lamberson, et al.
Pediatric Neurology|September 6, 2002
L-alanine supplementation in late infantile glycogen storage disease type IIOlaf A Bodamer, Dorothea Haas, Monique M Hermans, et al.
Pageof 7

Showing results (1-10 of 63) with videos related to

Sort By:
Pageof 7
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 28, 2010
Abnormal sterol metabolism in holoprosencephalyDorothea Haas, Maximilian Muenke
Orphanet Journal of Rare Diseases|May 26, 2006
Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndromeDorothea Haas, Georg F Hoffmann
American Journal of Medical Genetics. Part A|March 28, 2013
Prenatal presentation and diagnostic evaluation of suspected Smith-Lemli-Opitz (RSH) syndromeDorothea Haas, Gisela Haege, Georg F Hoffmann, et al.
Pediatrics|May 31, 2017
Amyloidosis Cutis Dyschromica, a Rare Cause of Hyperpigmentation: A New Case and Literature ReviewOya Kuseyri, Dorothea Haas, Nina Lang, et al.
Biofactors (Oxford, England)|December 20, 2008
Plasma and thrombocyte levels of coenzyme Q10 in children with Smith-Lemli-Opitz syndrome (SLOS) and the influence of HMG-CoA reductase inhibitorsDorothea Haas, Petra Niklowitz, Georg F Hoffmann, et al.
Pediatric Neurology|October 12, 2010
A novel missense mutation in a neonate with nonketotic hyperglycinemiaSascha Meyer, Cécile Acquaviva, Mohammed Ghiath Shamdeen, et al.
IUBMB Life|February 1, 2011
Ubiquinol-induced gene expression signatures are translated into altered parameters of erythropoiesis and reduced low density lipoprotein cholesterol levels in humansConstance Schmelzer, Petra Niklowitz, Jürgen G Okun, et al.
Acta Dermato-Venereologica|January 8, 2008
Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysisAnnette Kolb-Mäurer, Karl-Heinz Grzeschik, Dorothea Haas, et al.
Journal of Lipid Research|November 22, 2013
A highly sensitive method for analysis of 7-dehydrocholesterol for the study of Smith-Lemli-Opitz syndromeWei Liu, Libin Xu, Connor Lamberson, et al.
Pediatric Neurology|September 6, 2002
L-alanine supplementation in late infantile glycogen storage disease type IIOlaf A Bodamer, Dorothea Haas, Monique M Hermans, et al.
Pageof 7