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Human Genetics
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November 1, 1992
Deletion of the 5'-region in one or two alleles of HEXB in 15 out of 30 patients with Sandhoff disease
P A Bolhuis, H Bikker
Molecular and Cellular Endocrinology
|
January 1, 1992
Structure and characterization of a 50 bp repeat in intron 10 of the human thyroid peroxidase gene
H Bikker, F Baas, J J de Vijlder
The Journal of Clinical Endocrinology and Metabolism
|
February 1, 1997
Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects
H Bikker, F Baas, J J De Vijlder
Human Mutation
|
January 1, 1995
Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis
H Bikker, T Vulsma, F Baas, et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation
|
August 30, 2019
Non-sustained ventricular tachycardias, conduction disorders and an impaired left ventricular ejection fraction in a 32-year-old woman
S Alsters, Y Polyukhovych, H Bikker, et al.
The Journal of Clinical Endocrinology and Metabolism
|
June 1, 1996
Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene
H Bikker, J J Waelkens, B Bravenboer, et al.
Der Internist
|
December 17, 2010
[44-year-old woman with elevated liver enzymes and a family history for cholelithiasis]
C Hopf, U Beuers, H Bikker, et al.
Human Genetics
|
January 1, 1984
Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele
F Baas, H Bikker, G J van Ommen, et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation
|
March 9, 2019
Large next-generation sequencing gene panels in genetic heart disease: challenges in clinical practice
I Christiaans, O R F Mook, M Alders, et al.
Biochimica Et Biophysica Acta
|
September 8, 1993
Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme
P A Bolhuis, N J Ponne, H Bikker, et al.
Page
of 3
Search research articles
Search
Showing results (1-10 of 29) with videos related to
Sort By:
Page
of 3
Human Genetics
|
November 1, 1992
Deletion of the 5'-region in one or two alleles of HEXB in 15 out of 30 patients with Sandhoff disease
P A Bolhuis, H Bikker
Molecular and Cellular Endocrinology
|
January 1, 1992
Structure and characterization of a 50 bp repeat in intron 10 of the human thyroid peroxidase gene
H Bikker, F Baas, J J de Vijlder
The Journal of Clinical Endocrinology and Metabolism
|
February 1, 1997
Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects
H Bikker, F Baas, J J De Vijlder
Human Mutation
|
January 1, 1995
Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis
H Bikker, T Vulsma, F Baas, et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation
|
August 30, 2019
Non-sustained ventricular tachycardias, conduction disorders and an impaired left ventricular ejection fraction in a 32-year-old woman
S Alsters, Y Polyukhovych, H Bikker, et al.
The Journal of Clinical Endocrinology and Metabolism
|
June 1, 1996
Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene
H Bikker, J J Waelkens, B Bravenboer, et al.
Der Internist
|
December 17, 2010
[44-year-old woman with elevated liver enzymes and a family history for cholelithiasis]
C Hopf, U Beuers, H Bikker, et al.
Human Genetics
|
January 1, 1984
Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele
F Baas, H Bikker, G J van Ommen, et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation
|
March 9, 2019
Large next-generation sequencing gene panels in genetic heart disease: challenges in clinical practice
I Christiaans, O R F Mook, M Alders, et al.
Biochimica Et Biophysica Acta
|
September 8, 1993
Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme
P A Bolhuis, N J Ponne, H Bikker, et al.
Page
of 3