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Online Ressourcen 11 Inborn Metabolic Diseases
Berlin, Heidelberg : Springer Berlin Heidelberg, 1995, Second Edition
Online Ressource
Artikel 12 Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP)
Enthalten in Human genetics Bd. 94, Nr. 5, date:11.1994: 551-556
Online Ressource
Artikel 13 Spectrum of phenylketonuria mutations in Western Europe and North Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus
Enthalten in Human genetics Bd. 86, Nr. 4, date:2.1991: 355-358
Online Ressource
Artikel 14 Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency
Enthalten in Human genetics Bd. 84, Nr. 2, date:1.1990: 167-171
Online Ressource
Artikel 15 A probable sex difference in mutation rates in ornithine transcarbamylase deficiency
Enthalten in Human genetics Bd. 84, Nr. 2, date:1.1990: 163-166
Online Ressource
Artikel 16 Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders
Enthalten in Human genetics Bd. 81, Nr. 2, date:1.1989: 175-181
Online Ressource
Artikel 17 Hepatic peroxisomes in adrenoleukodystrophy and related syndromes: Cytochemical and morphometric data
Enthalten in Virchows Archiv Bd. 413, Nr. 4, date:7.1988: 275-285
Online Ressource
Artikel 18 Δ1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline
Enthalten in Zeitschrift für Kinderheilkunde Bd. 164, 15.1.2005, Nr. 1, date:1.2005: 31-36
Online Ressource
Artikel 19 Combined nutritional support and continuous extracorporeal removal therapy in the severe acute phase of maple syrup urine disease
Enthalten in Intensive care medicine Bd. 27, 25.10.2001, Nr. 11, date:11.2001: 1798-1806
Online Ressource
Artikel 20 Complex lipids
Enthalten in Journal of inherited metabolic disease Bd. 38, 12.11.2014, Nr. 1, date:1.2015: 1
Online Ressource


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