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

Reza Maroofian

Showing results (51-60 of 276) with videos related to

Pageof 28
Sort By:
Nucleic Acids Research|December 10, 2024
Isoleucine-to-valine substitutions support cellular physiology during isoleucine deprivationGautam Kok, Imre F Schene, Eveline F Ilcken, et al.
American Journal of Human Genetics|November 26, 2019
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary HypoplasiaAriana Kariminejad, Emmanuelle Szenker-Ravi, Caroline Lekszas, et al.
European Journal of Human Genetics : EJHG|August 9, 2023
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54Thomas B Smith, Alessandro Rea, Huw B Thomas, et al.
International Journal of Pediatric Otorhinolaryngology|June 7, 2017
Novel EYA1 variants causing Branchio-oto-renal syndromeKyle D Klingbeil, Christopher M Greenland, Selcuk Arslan, et al.
Brain Communications|March 5, 2025
Biallelic variants in <i>GTF3C3</i> encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafishMohamed S Abdel-Hamid, Adeline Paimboeuf, Maha S Zaki, et al.
Journal of Medical Genetics|November 30, 2018
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive <i>c</i>erebellar, <i>o</i>cular, cranio<i>f</i>acial and <i>g</i>enital features (COFG syndrome)Abolfazl Rad, Umut Altunoglu, Rebecca Miller, et al.
American Journal of Human Genetics|November 19, 2013
Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizuresEmma L Baple, Reza Maroofian, Barry A Chioza, et al.
Annals of Clinical and Translational Neurology|July 26, 2022
PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathyHormos Salimi Dafsari, Joshua G Pemberton, Elizabeth A Ferrer, et al.
Human Mutation|March 14, 2021
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestationAlessandra Torraco, Alessia Nasca, Daniela Verrigni, et al.
Clinical Genetics|August 6, 2022
A recurrent homozygous missense DPM3 variant leads to muscle and brain diseaseSara Nagy, Tracy Lau, Shahryar Alavi, et al.
Pageof 28

Showing results (51-60 of 276) with videos related to

Sort By:
Pageof 28
Nucleic Acids Research|December 10, 2024
Isoleucine-to-valine substitutions support cellular physiology during isoleucine deprivationGautam Kok, Imre F Schene, Eveline F Ilcken, et al.
American Journal of Human Genetics|November 26, 2019
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary HypoplasiaAriana Kariminejad, Emmanuelle Szenker-Ravi, Caroline Lekszas, et al.
European Journal of Human Genetics : EJHG|August 9, 2023
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54Thomas B Smith, Alessandro Rea, Huw B Thomas, et al.
International Journal of Pediatric Otorhinolaryngology|June 7, 2017
Novel EYA1 variants causing Branchio-oto-renal syndromeKyle D Klingbeil, Christopher M Greenland, Selcuk Arslan, et al.
Brain Communications|March 5, 2025
Biallelic variants in <i>GTF3C3</i> encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafishMohamed S Abdel-Hamid, Adeline Paimboeuf, Maha S Zaki, et al.
Journal of Medical Genetics|November 30, 2018
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive <i>c</i>erebellar, <i>o</i>cular, cranio<i>f</i>acial and <i>g</i>enital features (COFG syndrome)Abolfazl Rad, Umut Altunoglu, Rebecca Miller, et al.
American Journal of Human Genetics|November 19, 2013
Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizuresEmma L Baple, Reza Maroofian, Barry A Chioza, et al.
Annals of Clinical and Translational Neurology|July 26, 2022
PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathyHormos Salimi Dafsari, Joshua G Pemberton, Elizabeth A Ferrer, et al.
Human Mutation|March 14, 2021
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestationAlessandra Torraco, Alessia Nasca, Daniela Verrigni, et al.
Clinical Genetics|August 6, 2022
A recurrent homozygous missense DPM3 variant leads to muscle and brain diseaseSara Nagy, Tracy Lau, Shahryar Alavi, et al.
Pageof 28