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H G Brunner

Showing results (161-170 of 179) with videos related to

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Journal of Medical Genetics|May 24, 2005
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21M Ali, L J Highet, D Lacombe, et al.
Journal of Medical Genetics|September 13, 2005
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 geneM C J Jongmans, R J Admiraal, K P van der Donk, et al.
British Journal of Cancer|April 3, 1999
Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2M J Ligtenberg, F B Hogervorst, H W Willems, et al.
American Journal of Human Genetics|May 29, 2000
Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21Y J Crow, A P Jackson, E Roberts, et al.
Nature Genetics|October 3, 1999
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)A I den Hollander, J B ten Brink, Y J de Kok, et al.
Nature Communications|October 21, 2017
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disabilityM R F Reijnders, M Kousi, G M van Woerden, et al.
The Journal of Clinical Endocrinology and Metabolism|March 20, 1999
A limited repertoire of mutations of the luteinizing hormone (LH) receptor gene in familial and sporadic patients with male LH-independent precocious pubertyH Kremer, J W Martens, M van Reen, et al.
American Journal of Human Genetics|September 16, 1999
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypesS Annunen, J Körkkö, M Czarny, et al.
American Journal of Human Genetics|July 20, 2001
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlationH van Bokhoven, B C Hamel, M Bamshad, et al.
Scientific Reports|July 3, 2025
Clinical and metabolic consequences of a historic pathogenic lamin A/C founder variantL Y Wong, T Torfs, S J V Vanherle, et al.
Pageof 18

Showing results (161-170 of 179) with videos related to

Sort By:
Pageof 18
Journal of Medical Genetics|May 24, 2005
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21M Ali, L J Highet, D Lacombe, et al.
Journal of Medical Genetics|September 13, 2005
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 geneM C J Jongmans, R J Admiraal, K P van der Donk, et al.
British Journal of Cancer|April 3, 1999
Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2M J Ligtenberg, F B Hogervorst, H W Willems, et al.
American Journal of Human Genetics|May 29, 2000
Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21Y J Crow, A P Jackson, E Roberts, et al.
Nature Genetics|October 3, 1999
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)A I den Hollander, J B ten Brink, Y J de Kok, et al.
Nature Communications|October 21, 2017
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disabilityM R F Reijnders, M Kousi, G M van Woerden, et al.
The Journal of Clinical Endocrinology and Metabolism|March 20, 1999
A limited repertoire of mutations of the luteinizing hormone (LH) receptor gene in familial and sporadic patients with male LH-independent precocious pubertyH Kremer, J W Martens, M van Reen, et al.
American Journal of Human Genetics|September 16, 1999
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypesS Annunen, J Körkkö, M Czarny, et al.
American Journal of Human Genetics|July 20, 2001
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlationH van Bokhoven, B C Hamel, M Bamshad, et al.
Scientific Reports|July 3, 2025
Clinical and metabolic consequences of a historic pathogenic lamin A/C founder variantL Y Wong, T Torfs, S J V Vanherle, et al.
Pageof 18