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Showing results (21-30 of 26) with videos related to

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Journal of Medical Genetics|December 7, 2007
Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplificationA De Luca, I Bottillo, M C Dasdia, et al.
Human Mutation|February 12, 2000
Mutation in the nerve-specific 5'non-coding region of Cx32 gene and absence of specific mRNA in a CMTX1 Italian family. Mutations in brief no. 195. OnlineL Flagiello, V Cirigliano, M Strazzullo, et al.
Stem Cell Research|April 13, 2024
Generation of induced pluripotent stem cells (CSSi017-A)(12862) from an ALS patient carrying a repeat expansion in the C9orf72 geneG Ruotolo, A D'Anzi, A Casamassa, et al.
Human Mutation|July 20, 2001
Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domainsM G Miano, F Testa, F Filippini, et al.
Clinical Genetics|September 1, 2017
Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndromeM Niceta, K Margiotti, M C Digilio, et al.
European Journal of Human Genetics : EJHG|September 14, 1999
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosaM G Miano, F Testa, M Strazzullo, et al.
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Showing results (21-30 of 26) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 26 results.
Journal of Medical Genetics|December 7, 2007
Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplificationA De Luca, I Bottillo, M C Dasdia, et al.
Human Mutation|February 12, 2000
Mutation in the nerve-specific 5'non-coding region of Cx32 gene and absence of specific mRNA in a CMTX1 Italian family. Mutations in brief no. 195. OnlineL Flagiello, V Cirigliano, M Strazzullo, et al.
Stem Cell Research|April 13, 2024
Generation of induced pluripotent stem cells (CSSi017-A)(12862) from an ALS patient carrying a repeat expansion in the C9orf72 geneG Ruotolo, A D'Anzi, A Casamassa, et al.
Human Mutation|July 20, 2001
Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domainsM G Miano, F Testa, F Filippini, et al.
Clinical Genetics|September 1, 2017
Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndromeM Niceta, K Margiotti, M C Digilio, et al.
European Journal of Human Genetics : EJHG|September 14, 1999
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosaM G Miano, F Testa, M Strazzullo, et al.
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