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Clare V Logan

Showing results (31-40 of 48) with videos related to

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American Journal of Human Genetics|November 4, 2017
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and OsteopeniaThi Tuyet Mai Nguyen, Yoshiko Murakami, Eamonn Sheridan, et al.
Science (New York, N.Y.)|January 28, 2012
Evolutionarily assembled cis-regulatory module at a human ciliopathy locusJeong Ho Lee, Jennifer L Silhavy, Ji Eun Lee, et al.
Human Mutation|May 4, 2012
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosisChristine P Diggle, David A Parry, Clare V Logan, et al.
Nature Genetics|April 8, 2014
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndromeGhayda Mirzaa, David A Parry, Andrew E Fry, et al.
Nature Genetics|May 12, 2009
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesHemant Khanna, Erica E Davis, Carlos A Murga-Zamalloa, et al.
Nature Genetics|December 17, 2013
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signalingClare V Logan, György Szabadkai, Jenny A Sharpe, et al.
Genome Biology|November 30, 2016
Characterizing the morbid genome of ciliopathiesRanad Shaheen, Katarzyna Szymanska, Basudha Basu, et al.
Neuron|November 21, 2020
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with MicrocephalyGuoliang Chai, Alice Webb, Chen Li, et al.
American Journal of Human Genetics|December 4, 2018
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable ImmunodeficiencyClare V Logan, Jennie E Murray, David A Parry, et al.
Nature Genetics|June 1, 2010
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesEnza Maria Valente, Clare V Logan, Soumaya Mougou-Zerelli, et al.
Pageof 5

Showing results (31-40 of 48) with videos related to

Sort By:
Pageof 5
American Journal of Human Genetics|November 4, 2017
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and OsteopeniaThi Tuyet Mai Nguyen, Yoshiko Murakami, Eamonn Sheridan, et al.
Science (New York, N.Y.)|January 28, 2012
Evolutionarily assembled cis-regulatory module at a human ciliopathy locusJeong Ho Lee, Jennifer L Silhavy, Ji Eun Lee, et al.
Human Mutation|May 4, 2012
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosisChristine P Diggle, David A Parry, Clare V Logan, et al.
Nature Genetics|April 8, 2014
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndromeGhayda Mirzaa, David A Parry, Andrew E Fry, et al.
Nature Genetics|May 12, 2009
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesHemant Khanna, Erica E Davis, Carlos A Murga-Zamalloa, et al.
Nature Genetics|December 17, 2013
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signalingClare V Logan, György Szabadkai, Jenny A Sharpe, et al.
Genome Biology|November 30, 2016
Characterizing the morbid genome of ciliopathiesRanad Shaheen, Katarzyna Szymanska, Basudha Basu, et al.
Neuron|November 21, 2020
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with MicrocephalyGuoliang Chai, Alice Webb, Chen Li, et al.
American Journal of Human Genetics|December 4, 2018
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable ImmunodeficiencyClare V Logan, Jennie E Murray, David A Parry, et al.
Nature Genetics|June 1, 2010
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesEnza Maria Valente, Clare V Logan, Soumaya Mougou-Zerelli, et al.
Pageof 5