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H G Brunner

Showing results (71-80 of 179) with videos related to

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Genomics|October 1, 1989
A multipoint linkage map around the locus for myotonic dystrophy on chromosome 19H G Brunner, H Smeets, H M Lambermon, et al.
Human Molecular Genetics|December 6, 2001
CRB1 has a cytoplasmic domain that is functionally conserved between human and DrosophilaA I den Hollander, K Johnson, Y J de Kok, et al.
American Journal of Medical Genetics|April 10, 1995
Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier reportB C Hamel, J M Draaisma, A J Pinckers, et al.
Clinical Genetics|November 3, 2017
Homozygous mutation in ELMO2 may cause Ramon syndromeC Mehawej, A Hoischen, R A Farah, et al.
Nucleic Acids Research|June 28, 2005
GeneSeeker: extraction and integration of human disease-related information from web-based genetic databasesM A van Driel, K Cuelenaere, P P C W Kemmeren, et al.
Clinical Genetics|February 25, 2009
Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?S Ben-Shachar, M Khajavi, M A Withers, et al.
The Journal of Clinical Endocrinology and Metabolism|November 1, 1996
An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX femaleS P Toledo, H G Brunner, R Kraaij, et al.
Genetic Counseling (Geneva, Switzerland)|May 3, 2001
Metabolic studies in older mentally retarded patients: significance of metabolic testing and correlation with the clinical phenotypeG J Van Buggenhout, J M Trijbels, R Wevers, et al.
American Journal of Human Genetics|August 26, 2000
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophyA Maugeri, B J Klevering, K Rohrschneider, et al.
Human Genetics|March 10, 1999
Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22A I den Hollander, S D van der Velde-Visser, A J Pinckers, et al.
Pageof 18

Showing results (71-80 of 179) with videos related to

Sort By:
Pageof 18
Genomics|October 1, 1989
A multipoint linkage map around the locus for myotonic dystrophy on chromosome 19H G Brunner, H Smeets, H M Lambermon, et al.
Human Molecular Genetics|December 6, 2001
CRB1 has a cytoplasmic domain that is functionally conserved between human and DrosophilaA I den Hollander, K Johnson, Y J de Kok, et al.
American Journal of Medical Genetics|April 10, 1995
Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier reportB C Hamel, J M Draaisma, A J Pinckers, et al.
Clinical Genetics|November 3, 2017
Homozygous mutation in ELMO2 may cause Ramon syndromeC Mehawej, A Hoischen, R A Farah, et al.
Nucleic Acids Research|June 28, 2005
GeneSeeker: extraction and integration of human disease-related information from web-based genetic databasesM A van Driel, K Cuelenaere, P P C W Kemmeren, et al.
Clinical Genetics|February 25, 2009
Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?S Ben-Shachar, M Khajavi, M A Withers, et al.
The Journal of Clinical Endocrinology and Metabolism|November 1, 1996
An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX femaleS P Toledo, H G Brunner, R Kraaij, et al.
Genetic Counseling (Geneva, Switzerland)|May 3, 2001
Metabolic studies in older mentally retarded patients: significance of metabolic testing and correlation with the clinical phenotypeG J Van Buggenhout, J M Trijbels, R Wevers, et al.
American Journal of Human Genetics|August 26, 2000
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophyA Maugeri, B J Klevering, K Rohrschneider, et al.
Human Genetics|March 10, 1999
Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22A I den Hollander, S D van der Velde-Visser, A J Pinckers, et al.
Pageof 18