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Michel Guipponi

Showing results (61-70 of 83) with videos related to

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Plos Genetics|January 31, 2015
Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicingMaria Gutierrez-Arcelus, Halit Ongen, Tuuli Lappalainen, et al.
Human Mutation|October 9, 2007
An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing lossMichel Guipponi, Min-Yen Toh, Justin Tan, et al.
American Journal of Human Genetics|March 22, 2016
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and HypotoniaPeriklis Makrythanasis, Mitsuhiro Kato, Maha S Zaki, et al.
American Journal of Human Genetics|October 6, 2018
Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile CataractsMuhammad Ansar, Hyung-Lok Chung, Rachel L Taylor, et al.
Nature|April 18, 2014
Domains of genome-wide gene expression dysregulation in Down's syndromeAudrey Letourneau, Federico A Santoni, Ximena Bonilla, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2017
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delayMuhammad Ansar, Saima Riazuddin, Muhammad Tahir Sarwar, et al.
Human Molecular Genetics|February 19, 2015
Galanin pathogenic mutations in temporal lobe epilepsyMichel Guipponi, Amina Chentouf, Kristin E B Webling, et al.
Nature Genetics|March 8, 2016
Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinomaXimena Bonilla, Laurent Parmentier, Bryan King, et al.
Plos Genetics|May 3, 2014
Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signalingPatrick Callier, Pierre Calvel, Armine Matevossian, et al.
Plos Medicine|October 24, 2012
Genetic predictors of response to serotonergic and noradrenergic antidepressants in major depressive disorder: a genome-wide analysis of individual-level data and a meta-analysisKatherine E Tansey, Michel Guipponi, Nader Perroud, et al.
Pageof 9

Showing results (61-70 of 83) with videos related to

Sort By:
Pageof 9
Plos Genetics|January 31, 2015
Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicingMaria Gutierrez-Arcelus, Halit Ongen, Tuuli Lappalainen, et al.
Human Mutation|October 9, 2007
An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing lossMichel Guipponi, Min-Yen Toh, Justin Tan, et al.
American Journal of Human Genetics|March 22, 2016
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and HypotoniaPeriklis Makrythanasis, Mitsuhiro Kato, Maha S Zaki, et al.
American Journal of Human Genetics|October 6, 2018
Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile CataractsMuhammad Ansar, Hyung-Lok Chung, Rachel L Taylor, et al.
Nature|April 18, 2014
Domains of genome-wide gene expression dysregulation in Down's syndromeAudrey Letourneau, Federico A Santoni, Ximena Bonilla, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2017
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delayMuhammad Ansar, Saima Riazuddin, Muhammad Tahir Sarwar, et al.
Human Molecular Genetics|February 19, 2015
Galanin pathogenic mutations in temporal lobe epilepsyMichel Guipponi, Amina Chentouf, Kristin E B Webling, et al.
Nature Genetics|March 8, 2016
Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinomaXimena Bonilla, Laurent Parmentier, Bryan King, et al.
Plos Genetics|May 3, 2014
Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signalingPatrick Callier, Pierre Calvel, Armine Matevossian, et al.
Plos Medicine|October 24, 2012
Genetic predictors of response to serotonergic and noradrenergic antidepressants in major depressive disorder: a genome-wide analysis of individual-level data and a meta-analysisKatherine E Tansey, Michel Guipponi, Nader Perroud, et al.
Pageof 9