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Perciliz L Tan

Showing results (11-20 of 28) with videos related to

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Nature Genetics|October 25, 2011
A rare penetrant mutation in CFH confers high risk of age-related macular degenerationSoumya Raychaudhuri, Oleg Iartchouk, Kimberly Chin, et al.
Human Heredity|December 17, 2008
Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populationsWendy K Chung, Amit Patki, Naoki Matsuoka, et al.
Nature Genetics|September 17, 2013
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degenerationJohanna M Seddon, Yi Yu, Elizabeth C Miller, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 26, 2007
Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and functionPerciliz L Tan, Travis Barr, Peter N Inglis, et al.
American Journal of Human Genetics|July 5, 2014
Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndromeEva C Schulte, Maria Kousi, Perciliz L Tan, et al.
American Journal of Human Genetics|September 9, 2017
RAC1 Missense Mutations in Developmental Disorders with Diverse PhenotypesMargot R F Reijnders, Nurhuda M Ansor, Maria Kousi, et al.
Genome Research|April 3, 2015
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomaliesGuntram Borck, Friederike Hög, Maria Lisa Dentici, et al.
Genome Research|January 7, 2015
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomaliesGuntram Borck, Friederike Hög, Maria Lisa Dentici, et al.
Nature Genetics|September 20, 2005
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebratesAlison J Ross, Helen May-Simera, Erica R Eichers, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 14, 2010
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)Benjamin M Neale, Jesen Fagerness, Robyn Reynolds, et al.
Pageof 3

Showing results (11-20 of 28) with videos related to

Sort By:
Pageof 3
Nature Genetics|October 25, 2011
A rare penetrant mutation in CFH confers high risk of age-related macular degenerationSoumya Raychaudhuri, Oleg Iartchouk, Kimberly Chin, et al.
Human Heredity|December 17, 2008
Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populationsWendy K Chung, Amit Patki, Naoki Matsuoka, et al.
Nature Genetics|September 17, 2013
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degenerationJohanna M Seddon, Yi Yu, Elizabeth C Miller, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 26, 2007
Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and functionPerciliz L Tan, Travis Barr, Peter N Inglis, et al.
American Journal of Human Genetics|July 5, 2014
Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndromeEva C Schulte, Maria Kousi, Perciliz L Tan, et al.
American Journal of Human Genetics|September 9, 2017
RAC1 Missense Mutations in Developmental Disorders with Diverse PhenotypesMargot R F Reijnders, Nurhuda M Ansor, Maria Kousi, et al.
Genome Research|April 3, 2015
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomaliesGuntram Borck, Friederike Hög, Maria Lisa Dentici, et al.
Genome Research|January 7, 2015
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomaliesGuntram Borck, Friederike Hög, Maria Lisa Dentici, et al.
Nature Genetics|September 20, 2005
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebratesAlison J Ross, Helen May-Simera, Erica R Eichers, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 14, 2010
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)Benjamin M Neale, Jesen Fagerness, Robyn Reynolds, et al.
Pageof 3