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Filippo Del Bene

Showing results (81-90 of 87) with videos related to

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Human Molecular Genetics|August 26, 2022
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypesElisabetta Flex, Shahad Albadri, Francesca Clementina Radio, et al.
Mechanisms of Development|June 24, 2004
A systematic genome-wide screen for mutations affecting organogenesis in Medaka, Oryzias latipesMakoto Furutani-Seiki, Takao Sasado, Chikako Morinaga, et al.
American Journal of Human Genetics|July 14, 2023
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signalingManuela Morleo, Rossella Venditti, Evangelos Theodorou, et al.
The Journal of Clinical Investigation|May 16, 2022
UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical traffickingRémi Duclaux-Loras, Corinne Lebreton, Jérémy Berthelet, et al.
American Journal of Human Genetics|February 5, 2026
Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 traffickingPilar Chacon-Millan, Antonella Delicato, Arif Mahmood, et al.
American Journal of Human Genetics|May 19, 2021
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulationAlban Ziegler, Rémi Duclaux-Loras, Céline Revenu, et al.
Human Reproduction (Oxford, England)|December 5, 2023
Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundityHamdi Mbarek, Scott D Gordon, David L Duffy, et al.
Pageof 9

Showing results (81-90 of 87) with videos related to

Sort By:
Pageof 9
You have reached the last page of results.This site can display upto 87 results.
Human Molecular Genetics|August 26, 2022
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypesElisabetta Flex, Shahad Albadri, Francesca Clementina Radio, et al.
Mechanisms of Development|June 24, 2004
A systematic genome-wide screen for mutations affecting organogenesis in Medaka, Oryzias latipesMakoto Furutani-Seiki, Takao Sasado, Chikako Morinaga, et al.
American Journal of Human Genetics|July 14, 2023
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signalingManuela Morleo, Rossella Venditti, Evangelos Theodorou, et al.
The Journal of Clinical Investigation|May 16, 2022
UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical traffickingRémi Duclaux-Loras, Corinne Lebreton, Jérémy Berthelet, et al.
American Journal of Human Genetics|February 5, 2026
Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 traffickingPilar Chacon-Millan, Antonella Delicato, Arif Mahmood, et al.
American Journal of Human Genetics|May 19, 2021
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulationAlban Ziegler, Rémi Duclaux-Loras, Céline Revenu, et al.
Human Reproduction (Oxford, England)|December 5, 2023
Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundityHamdi Mbarek, Scott D Gordon, David L Duffy, et al.
Pageof 9