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Nature Genetics|May 20, 1998
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosisD J Shears, H J Vassal, F R Goodman, et al.Klinische Padiatrie|June 2, 2010
Novel homozygous mutation (c.175delG) in platelet glycoprotein ITGA2B gene as cause of Glanzmann's thrombasthenia type IC Vannier, W Behnisch, I Bartsch, et al.Journal of Inherited Metabolic Disease|August 6, 2008
Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patientA Rimella-Le-Huu, H Henry, I Kern, et al.Helvetica Paediatrica Acta|January 1, 1979
Strychnine treatment attempted in newborn twins with severe nonketotic hyperglycinemiaB Steinmann, R GitzelmannFEBS Letters|March 31, 1986
Structural study of a mutant type I collagen from a patient with lethal osteogenesis imperfecta containing an intramolecular disulfide bond in the triple-helical domainW Traub, B SteinmannEnzyme|January 1, 1984
Galactosemia: how does long-term treatment change the outcome?R Gitzelmann, B SteinmannHuman Mutation|August 3, 2000
Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assaysC Giunta, B SteinmannAmerican Journal of Medical Genetics|December 22, 1999
Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?C Giunta, B SteinmannHelvetica Paediatrica Acta|September 1, 1981
The diagnosis of hereditary fructose intoleranceB Steinmann, R GitzelmannAktuelle Gerontologie|December 1, 1978
[The heart of the old hemiplegic patient (author's transl)]B Steinmann, E KunzPageof 31