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Guillaume Smits

Showing results (41-50 of 60) with videos related to

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Human Genetics|October 27, 2023
Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs)Edoardo Giuili, Robin Grolaux, Catarina Z N M Macedo, et al.
American Journal of Medical Genetics. Part A|May 29, 2024
A milder form of NSRP1-associated neurodevelopmental disorder, caused by a missense variant in the nuclear localization signalSebastian Neuens, Maiza Kausar, Sun-Kyoung Kang, et al.
Journal of Assisted Reproduction and Genetics|February 5, 2026
Disruption of meiotic double-strand break dynamics provokes germline human infertility in both sexesOzlem Okutman, Asma Sassi, Ahmet Salvarci, et al.
Nature Genetics|July 1, 2008
Conservation of the H19 noncoding RNA and H19-IGF2 imprinting mechanism in theriansGuillaume Smits, Andrew J Mungall, Sam Griffiths-Jones, et al.
Journal of Medical Genetics|July 2, 2013
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactylyNicolas Simonis, Isabelle Migeotte, Nelle Lambert, et al.
BMC Genetics|April 21, 2010
High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placentaCaroline Daelemans, Matthew E Ritchie, Guillaume Smits, et al.
Alzheimer Disease and Associated Disorders|November 26, 2024
G2019S Mutation of Leucine-Rich Repeat Kinase 2 Is a Cause of Lewy Body Dementia in Patients With North African AncestorsKurt Segers, Florence Benoit, Sophie Levy, et al.
Frontiers in Medicine|June 2, 2023
An exome-wide study of renal operational toleranceAnnick Massart, Richard Danger, Catharina Olsen, et al.
Nature Genetics|May 7, 2024
STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179Helmut Grasberger, Alexandra M Dumitrescu, Xiao-Hui Liao, et al.
JCI Insight|January 26, 2021
Distinct antibody repertoires against endemic human coronaviruses in children and adultsTaushif Khan, Mahbuba Rahman, Fatima Al Ali, et al.
Pageof 6

Showing results (41-50 of 60) with videos related to

Sort By:
Pageof 6
Human Genetics|October 27, 2023
Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs)Edoardo Giuili, Robin Grolaux, Catarina Z N M Macedo, et al.
American Journal of Medical Genetics. Part A|May 29, 2024
A milder form of NSRP1-associated neurodevelopmental disorder, caused by a missense variant in the nuclear localization signalSebastian Neuens, Maiza Kausar, Sun-Kyoung Kang, et al.
Journal of Assisted Reproduction and Genetics|February 5, 2026
Disruption of meiotic double-strand break dynamics provokes germline human infertility in both sexesOzlem Okutman, Asma Sassi, Ahmet Salvarci, et al.
Nature Genetics|July 1, 2008
Conservation of the H19 noncoding RNA and H19-IGF2 imprinting mechanism in theriansGuillaume Smits, Andrew J Mungall, Sam Griffiths-Jones, et al.
Journal of Medical Genetics|July 2, 2013
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactylyNicolas Simonis, Isabelle Migeotte, Nelle Lambert, et al.
BMC Genetics|April 21, 2010
High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placentaCaroline Daelemans, Matthew E Ritchie, Guillaume Smits, et al.
Alzheimer Disease and Associated Disorders|November 26, 2024
G2019S Mutation of Leucine-Rich Repeat Kinase 2 Is a Cause of Lewy Body Dementia in Patients With North African AncestorsKurt Segers, Florence Benoit, Sophie Levy, et al.
Frontiers in Medicine|June 2, 2023
An exome-wide study of renal operational toleranceAnnick Massart, Richard Danger, Catharina Olsen, et al.
Nature Genetics|May 7, 2024
STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179Helmut Grasberger, Alexandra M Dumitrescu, Xiao-Hui Liao, et al.
JCI Insight|January 26, 2021
Distinct antibody repertoires against endemic human coronaviruses in children and adultsTaushif Khan, Mahbuba Rahman, Fatima Al Ali, et al.
Pageof 6