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Pagnamenta

Showing results (251-260 of 265) with videos related to

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American Journal of Human Genetics|December 20, 2023
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndromeVincenzo Salpietro, Reza Maroofian, Maha S Zaki, et al.
American Journal of Human Genetics|March 20, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3Maimuna S Paul, Sydney L Michener, Hongling Pan, et al.
American Journal of Human Genetics|May 9, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3Maimuna S Paul, Sydney L Michener, Hongling Pan, et al.
Nature|February 26, 2025
Rare disease gene association discovery in the 100,000 Genomes ProjectValentina Cipriani, Letizia Vestito, Emma F Magavern, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 1, 2022
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individualsKen Saida, Reza Maroofian, Toru Sengoku, et al.
Genome Medicine|November 10, 2023
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseasesAlistair T Pagnamenta, Carme Camps, Edoardo Giacopuzzi, et al.
Nature Genetics|May 19, 2015
Factors influencing success of clinical genome sequencing across a broad spectrum of disordersJenny C Taylor, Hilary C Martin, Stefano Lise, et al.
Brain : a Journal of Neurology|September 4, 2021
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegiaManuela Wiessner, Reza Maroofian, Meng-Yuan Ni, et al.
Brain : a Journal of Neurology|May 10, 2021
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegiaManuela Wiessner, Reza Maroofian, Meng-Yuan Ni, et al.
American Journal of Human Genetics|April 29, 2014
Convergence of genes and cellular pathways dysregulated in autism spectrum disordersDalila Pinto, Elsa Delaby, Daniele Merico, et al.
Pageof 27

Showing results (251-260 of 265) with videos related to

Sort By:
Pageof 27
American Journal of Human Genetics|December 20, 2023
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndromeVincenzo Salpietro, Reza Maroofian, Maha S Zaki, et al.
American Journal of Human Genetics|March 20, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3Maimuna S Paul, Sydney L Michener, Hongling Pan, et al.
American Journal of Human Genetics|May 9, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3Maimuna S Paul, Sydney L Michener, Hongling Pan, et al.
Nature|February 26, 2025
Rare disease gene association discovery in the 100,000 Genomes ProjectValentina Cipriani, Letizia Vestito, Emma F Magavern, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 1, 2022
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individualsKen Saida, Reza Maroofian, Toru Sengoku, et al.
Genome Medicine|November 10, 2023
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseasesAlistair T Pagnamenta, Carme Camps, Edoardo Giacopuzzi, et al.
Nature Genetics|May 19, 2015
Factors influencing success of clinical genome sequencing across a broad spectrum of disordersJenny C Taylor, Hilary C Martin, Stefano Lise, et al.
Brain : a Journal of Neurology|September 4, 2021
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegiaManuela Wiessner, Reza Maroofian, Meng-Yuan Ni, et al.
Brain : a Journal of Neurology|May 10, 2021
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegiaManuela Wiessner, Reza Maroofian, Meng-Yuan Ni, et al.
American Journal of Human Genetics|April 29, 2014
Convergence of genes and cellular pathways dysregulated in autism spectrum disordersDalila Pinto, Elsa Delaby, Daniele Merico, et al.
Pageof 27