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G Brunner

Showing results (311-320 of 727) with videos related to

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European Journal of Human Genetics : EJHG|September 11, 2008
Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2Carolien M Kets, Nicoline Hoogerbrugge, Joannes H J M van Krieken, et al.
Human Genetics|December 1, 1988
The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGKH G Brunner, A van Bennekom, E M Lambermon, et al.
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.
Clinical Dysmorphology|March 14, 2007
Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndromeEva Morava, Ernie M H F Bongers, Wolfram Kress, et al.
European Journal of Human Genetics : EJHG|February 27, 2021
The impact of unsolicited findings in clinical exome sequencing, a qualitative interview studyVyne van der Schoot, Simone J Viellevoije, Femke Tammer, et al.
Pageof 73

Showing results (311-320 of 727) with videos related to

Sort By:
Pageof 73
European Journal of Human Genetics : EJHG|September 11, 2008
Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2Carolien M Kets, Nicoline Hoogerbrugge, Joannes H J M van Krieken, et al.
Human Genetics|December 1, 1988
The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGKH G Brunner, A van Bennekom, E M Lambermon, et al.
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.
Clinical Dysmorphology|March 14, 2007
Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndromeEva Morava, Ernie M H F Bongers, Wolfram Kress, et al.
European Journal of Human Genetics : EJHG|February 27, 2021
The impact of unsolicited findings in clinical exome sequencing, a qualitative interview studyVyne van der Schoot, Simone J Viellevoije, Femke Tammer, et al.
Pageof 73