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Michel Koenig

Showing results (71-80 of 126) with videos related to

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Neurology(R) Neuroimmunology & Neuroinflammation|June 6, 2020
Two neurologic facets of CTLA4-related haploinsufficiencyXavier Ayrignac, Radjiv Goulabchand, Eric Jeziorski, et al.
The Journal of Clinical Investigation|August 20, 2003
Frataxin deficiency in pancreatic islets causes diabetes due to loss of beta cell massMichael Ristow, Hindrik Mulder, Doreen Pomplun, et al.
Neurobiology of Disease|November 29, 2016
Functional validation of ABHD12 mutations in the neurodegenerative disease PHARCAngèle Tingaud-Sequeira, Demetrio Raldúa, Julie Lavie, et al.
Physical Review. E|June 19, 2026
Measuring the principle Hugoniot of low-density silica aerogel foam at pressures up to 160 GPaJordan Lee, Peter Norreys, Robert Paddock, et al.
Nature Genetics|November 12, 2005
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperoneAnna-Kaisa Anttonen, Ibrahim Mahjneh, Riikka H Hämäläinen, et al.
JAMA Neurology|August 5, 2014
Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation studyMathilde Renaud, Mathieu Anheim, Erik-Jan Kamsteeg, et al.
Neuromuscular Disorders : NMD|October 31, 2020
The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathiesAurélien Perrin, Raul Juntas Morales, François Rivier, et al.
Fetal Diagnosis and Therapy|August 20, 2018
A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic FibrosisClaire Guissart, Frédéric Tran Mau Them, Vanessa Debant, et al.
Human Molecular Genetics|January 19, 2010
Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patientsClaudia Braida, Rhoda K A Stefanatos, Berit Adam, et al.
International Journal of Molecular Sciences|December 24, 2021
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes <i>MYO7A</i> and <i>USH2A</i>Luke Mansard, David Baux, Christel Vaché, et al.
Pageof 13

Showing results (71-80 of 126) with videos related to

Sort By:
Pageof 13
Neurology(R) Neuroimmunology & Neuroinflammation|June 6, 2020
Two neurologic facets of CTLA4-related haploinsufficiencyXavier Ayrignac, Radjiv Goulabchand, Eric Jeziorski, et al.
The Journal of Clinical Investigation|August 20, 2003
Frataxin deficiency in pancreatic islets causes diabetes due to loss of beta cell massMichael Ristow, Hindrik Mulder, Doreen Pomplun, et al.
Neurobiology of Disease|November 29, 2016
Functional validation of ABHD12 mutations in the neurodegenerative disease PHARCAngèle Tingaud-Sequeira, Demetrio Raldúa, Julie Lavie, et al.
Physical Review. E|June 19, 2026
Measuring the principle Hugoniot of low-density silica aerogel foam at pressures up to 160 GPaJordan Lee, Peter Norreys, Robert Paddock, et al.
Nature Genetics|November 12, 2005
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperoneAnna-Kaisa Anttonen, Ibrahim Mahjneh, Riikka H Hämäläinen, et al.
JAMA Neurology|August 5, 2014
Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation studyMathilde Renaud, Mathieu Anheim, Erik-Jan Kamsteeg, et al.
Neuromuscular Disorders : NMD|October 31, 2020
The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathiesAurélien Perrin, Raul Juntas Morales, François Rivier, et al.
Fetal Diagnosis and Therapy|August 20, 2018
A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic FibrosisClaire Guissart, Frédéric Tran Mau Them, Vanessa Debant, et al.
Human Molecular Genetics|January 19, 2010
Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patientsClaudia Braida, Rhoda K A Stefanatos, Berit Adam, et al.
International Journal of Molecular Sciences|December 24, 2021
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes <i>MYO7A</i> and <i>USH2A</i>Luke Mansard, David Baux, Christel Vaché, et al.
Pageof 13