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Showing results (51-60 of 62) with videos related to

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Human Molecular Genetics|November 3, 2018
Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafishMadeline Louise Reilly, Marijn F Stokman, Virginie Magry, et al.
Molecular Cytogenetics|October 1, 2015
Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?Julia K Ehret, Hartmut Engels, Kirsten Cremer, et al.
American Journal of Medical Genetics. Part A|August 4, 2021
Expanding the KIF4A-associated phenotypeSilvia Kalantari, Colleen Carlston, Norah Alsaleh, et al.
Human Genetics|June 23, 2021
Genome sequencing in families with congenital limb malformationsJonas Elsner, Martin A Mensah, Manuel Holtgrewe, et al.
Biorxiv : the Preprint Server for Biology|October 10, 2024
The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architectureNeftalí Vazquez, Chanjae Lee, Irene Valenzuela, et al.
Nature Communications|February 2, 2026
Author Correction: The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architectureNeftalí Vazquez, Chanjae Lee, Irene Valenzuela, et al.
Nature Communications|July 2, 2025
The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architectureNeftalí Vazquez, Chanjae Lee, Irene Valenzuela, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 25, 2022
Prenatal phenotyping: A community effort to enhance the Human Phenotype OntologyFerdinand Dhombres, Patricia Morgan, Bimal P Chaudhari, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 1, 2025
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathyAnneke T Vulto-van Silfhout, Ingrid M Jazet, Suzanne Yzer, et al.
Nature Genetics|February 28, 2012
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndromeJeroen K J Van Houdt, Beata Anna Nowakowska, Sérgio B Sousa, et al.
Pageof 7

Showing results (51-60 of 62) with videos related to

Sort By:
Pageof 7
Human Molecular Genetics|November 3, 2018
Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafishMadeline Louise Reilly, Marijn F Stokman, Virginie Magry, et al.
Molecular Cytogenetics|October 1, 2015
Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?Julia K Ehret, Hartmut Engels, Kirsten Cremer, et al.
American Journal of Medical Genetics. Part A|August 4, 2021
Expanding the KIF4A-associated phenotypeSilvia Kalantari, Colleen Carlston, Norah Alsaleh, et al.
Human Genetics|June 23, 2021
Genome sequencing in families with congenital limb malformationsJonas Elsner, Martin A Mensah, Manuel Holtgrewe, et al.
Biorxiv : the Preprint Server for Biology|October 10, 2024
The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architectureNeftalí Vazquez, Chanjae Lee, Irene Valenzuela, et al.
Nature Communications|February 2, 2026
Author Correction: The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architectureNeftalí Vazquez, Chanjae Lee, Irene Valenzuela, et al.
Nature Communications|July 2, 2025
The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architectureNeftalí Vazquez, Chanjae Lee, Irene Valenzuela, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 25, 2022
Prenatal phenotyping: A community effort to enhance the Human Phenotype OntologyFerdinand Dhombres, Patricia Morgan, Bimal P Chaudhari, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 1, 2025
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathyAnneke T Vulto-van Silfhout, Ingrid M Jazet, Suzanne Yzer, et al.
Nature Genetics|February 28, 2012
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndromeJeroen K J Van Houdt, Beata Anna Nowakowska, Sérgio B Sousa, et al.
Pageof 7