Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Diana Rodriguez

Showing results (181-190 of 193) with videos related to

Pageof 20
Sort By:
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 14, 2021
Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalitiesVirginie Carmignac, Cyril Mignot, Emmanuelle Blanchard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 9, 2021
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalitiesVirginie Carmignac, Cyril Mignot, Emmanuelle Blanchard, et al.
The Journal of Experimental Medicine|September 21, 2021
Implication of folate deficiency in CYP2U1 loss of functionClaire Pujol, Anne Legrand, Livia Parodi, et al.
The Journal of Clinical Investigation|January 9, 2019
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophyDevesh C Pant, Imen Dorboz, Agatha Schluter, et al.
Neuron|March 6, 2020
Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical DevelopmentAshley L Lennox, Mariah L Hoye, Ruiji Jiang, et al.
Nature Genetics|April 2, 2014
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signalingGillian I Rice, Yoandris Del Toro Duany, Emma M Jenkinson, et al.
Human Mutation|January 4, 2020
Genetic and phenotypic spectrum associated with IFIH1 gain-of-functionGillian I Rice, Sehoon Park, Francesco Gavazzi, et al.
Nature Communications|February 17, 2019
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageLot Snijders Blok, Justine Rousseau, Joanna Twist, et al.
Nature Communications|November 7, 2018
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageLot Snijders Blok, Justine Rousseau, Joanna Twist, et al.
Nature Communications|May 4, 2019
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageLot Snijders Blok, Justine Rousseau, Joanna Twist, et al.
Pageof 20

Showing results (181-190 of 193) with videos related to

Sort By:
Pageof 20
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 14, 2021
Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalitiesVirginie Carmignac, Cyril Mignot, Emmanuelle Blanchard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 9, 2021
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalitiesVirginie Carmignac, Cyril Mignot, Emmanuelle Blanchard, et al.
The Journal of Experimental Medicine|September 21, 2021
Implication of folate deficiency in CYP2U1 loss of functionClaire Pujol, Anne Legrand, Livia Parodi, et al.
The Journal of Clinical Investigation|January 9, 2019
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophyDevesh C Pant, Imen Dorboz, Agatha Schluter, et al.
Neuron|March 6, 2020
Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical DevelopmentAshley L Lennox, Mariah L Hoye, Ruiji Jiang, et al.
Nature Genetics|April 2, 2014
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signalingGillian I Rice, Yoandris Del Toro Duany, Emma M Jenkinson, et al.
Human Mutation|January 4, 2020
Genetic and phenotypic spectrum associated with IFIH1 gain-of-functionGillian I Rice, Sehoon Park, Francesco Gavazzi, et al.
Nature Communications|February 17, 2019
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageLot Snijders Blok, Justine Rousseau, Joanna Twist, et al.
Nature Communications|November 7, 2018
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageLot Snijders Blok, Justine Rousseau, Joanna Twist, et al.
Nature Communications|May 4, 2019
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageLot Snijders Blok, Justine Rousseau, Joanna Twist, et al.
Pageof 20