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B D Lake

Showing results (101-110 of 136) with videos related to

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The Journal of Investigative Dermatology|December 1, 1990
Depletion of alcohol (hexanol) dehydrogenase activity in the epidermis and jejunal mucosa in Sjögren-Larsson syndromeM R Judge, B D Lake, V V Smith, et al.
Clinical Dysmorphology|January 1, 1995
The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC)W Reardon, R M Winter, L T Smith, et al.
Prenatal Diagnosis|March 31, 2000
Exclusion of late infantile neuronal ceroid lipofuscinosis (LINCL) in a fetus by assay of tripeptidyl peptidase I in chorionic villiE P Young, B G Winchester, W Peter Logan, et al.
Biochimica Et Biophysica Acta|December 8, 1989
Analysis of dolichyl pyrophosphoryl oligosaccharides in purified storage cytosomes from ovine ceroid-lipofuscinosisN A Hall, R D Jolly, D N Palmer, et al.
Journal of Inherited Metabolic Disease|January 1, 1991
Hexanol dehydrogenase activity shown by enzyme histochemistry on skin biopsies allows differentiation of Sjögren-Larsson syndrome from other ichthyosesB D Lake, V V Smith, M R Judge, et al.
Lancet (London, England)|May 6, 1989
Diagnosis of Niemann-Pick disease type C on chorionic villus cellsM T Vanier, R M Rousson, G Mandon, et al.
Human Molecular Genetics|December 1, 1993
A new point mutation associated with mitochondrial encephalomyopathyK J Morten, J M Cooper, G K Brown, et al.
Molecular Genetics and Metabolism|April 7, 1999
Genetic and physical mapping of the CLN6 gene on chromosome 15q21-23J D Sharp, R B Wheeler, B D Lake, et al.
Lancet (London, England)|February 14, 1987
Ultrastructure of liver in inherited disorders of fat oxidationB D Lake, P T Clayton, J V Leonard, et al.
American Journal of Medical Genetics|February 15, 1992
Stored dolichyl pyrophosphoryl oligosaccharides in Batten diseaseN A Hall, J E Thomas-Oates, A Dell, et al.
Pageof 14

Showing results (101-110 of 136) with videos related to

Sort By:
Pageof 14
The Journal of Investigative Dermatology|December 1, 1990
Depletion of alcohol (hexanol) dehydrogenase activity in the epidermis and jejunal mucosa in Sjögren-Larsson syndromeM R Judge, B D Lake, V V Smith, et al.
Clinical Dysmorphology|January 1, 1995
The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC)W Reardon, R M Winter, L T Smith, et al.
Prenatal Diagnosis|March 31, 2000
Exclusion of late infantile neuronal ceroid lipofuscinosis (LINCL) in a fetus by assay of tripeptidyl peptidase I in chorionic villiE P Young, B G Winchester, W Peter Logan, et al.
Biochimica Et Biophysica Acta|December 8, 1989
Analysis of dolichyl pyrophosphoryl oligosaccharides in purified storage cytosomes from ovine ceroid-lipofuscinosisN A Hall, R D Jolly, D N Palmer, et al.
Journal of Inherited Metabolic Disease|January 1, 1991
Hexanol dehydrogenase activity shown by enzyme histochemistry on skin biopsies allows differentiation of Sjögren-Larsson syndrome from other ichthyosesB D Lake, V V Smith, M R Judge, et al.
Lancet (London, England)|May 6, 1989
Diagnosis of Niemann-Pick disease type C on chorionic villus cellsM T Vanier, R M Rousson, G Mandon, et al.
Human Molecular Genetics|December 1, 1993
A new point mutation associated with mitochondrial encephalomyopathyK J Morten, J M Cooper, G K Brown, et al.
Molecular Genetics and Metabolism|April 7, 1999
Genetic and physical mapping of the CLN6 gene on chromosome 15q21-23J D Sharp, R B Wheeler, B D Lake, et al.
Lancet (London, England)|February 14, 1987
Ultrastructure of liver in inherited disorders of fat oxidationB D Lake, P T Clayton, J V Leonard, et al.
American Journal of Medical Genetics|February 15, 1992
Stored dolichyl pyrophosphoryl oligosaccharides in Batten diseaseN A Hall, J E Thomas-Oates, A Dell, et al.
Pageof 14