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Maria Kousi

Showing results (11-20 of 26) with videos related to

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Epilepsy Research|November 17, 2009
Suggestive evidence for a new locus for epilepsy with heterogeneous phenotypes on chromosome 17qAuli Sirén, Anne Polvi, Lyne Chahine, et al.
Nature Genetics|April 11, 2018
Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insightsAlexander Gusev, Nicholas Mancuso, Hyejung Won, et al.
Nature Genetics|October 13, 2020
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathyMaria Kousi, Onuralp Söylemez, Aysegül Ozanturk, 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.
Nature Communications|November 20, 2020
PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophreniaTanner O Monroe, Melanie E Garrett, Maria Kousi, et al.
Brain : a Journal of Neurology|March 24, 2017
ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron lossAnna-Kaisa Anttonen, Anni Laari, Maria Kousi, et al.
The New England Journal of Medicine|May 10, 2013
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitinationDavid H Margolin, Maria Kousi, Yee-Ming Chan, 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.
Human Mutation|July 2, 2019
Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI-5Alexander Miguel Monzon, Marco Carraro, Luigi Chiricosta, 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.
Pageof 3

Showing results (11-20 of 26) with videos related to

Sort By:
Pageof 3
Epilepsy Research|November 17, 2009
Suggestive evidence for a new locus for epilepsy with heterogeneous phenotypes on chromosome 17qAuli Sirén, Anne Polvi, Lyne Chahine, et al.
Nature Genetics|April 11, 2018
Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insightsAlexander Gusev, Nicholas Mancuso, Hyejung Won, et al.
Nature Genetics|October 13, 2020
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathyMaria Kousi, Onuralp Söylemez, Aysegül Ozanturk, 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.
Nature Communications|November 20, 2020
PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophreniaTanner O Monroe, Melanie E Garrett, Maria Kousi, et al.
Brain : a Journal of Neurology|March 24, 2017
ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron lossAnna-Kaisa Anttonen, Anni Laari, Maria Kousi, et al.
The New England Journal of Medicine|May 10, 2013
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitinationDavid H Margolin, Maria Kousi, Yee-Ming Chan, 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.
Human Mutation|July 2, 2019
Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI-5Alexander Miguel Monzon, Marco Carraro, Luigi Chiricosta, 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.
Pageof 3