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Clinical genetics

Showing results (451-460 of 7,173) with videos related to

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Clinical Genetics|January 5, 2023
DKK1 is a strong candidate for mesiodens and taurodontismPiranit Kantaputra, Peeranat Jatooratthawichot, Naomi Kottege, et al.
Clinical Genetics|January 17, 2023
Possible association of trichorhinophalangeal syndrome I and intracranial subependymomaDonald A Ross, Siren Berland, Christian A Helland, et al.
Clinical Genetics|January 18, 2023
The family reported to have X-linked Dyggve-Melchior-Clausen syndrome instead has X-linked SEDT caused by a novel TRAPPC2 frameshift variantJuan J Yunis, Luz K Yunis
Clinical Genetics|December 28, 2022
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domainLuisa Averdunk, Khalid Al-Thihli, Harald Surowy, et al.
Clinical Genetics|July 1, 2021
Recalling the pathology of Parkinson's disease; lacking exact figure of prevalence and genetic evidence in Asia with an alarming outcome: A time to step-upArif Mahmood, Abid Ali Shah, Muhammad Umair, et al.
Clinical Genetics|July 1, 2021
Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular featuresJair Antonio Tenorio-Castaño, Pedro Arias, Alberto Fernández-Jaén, et al.
Clinical Genetics|January 7, 2021
Congenital cervical spine malformation due to bi-allelic RIPPLY2 variants in spondylocostal dysostosis type 6Meret Wegler, Christian Roth, Eckehard Schumann, et al.
Clinical Genetics|January 8, 2021
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trialsAurore Garde, Laurent Guibaud, Alice Goldenberg, et al.
Clinical Genetics|June 22, 2021
How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policiesJasmijn E Klapwijk, Malgorzata I Srebniak, Attie T J I Go, et al.
Clinical Genetics|July 3, 2021
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorderStephanie Oates, Michael Absoud, Sushma Goyal, et al.
Pageof 718

Showing results (451-460 of 7,173) with videos related to

Sort By:
Pageof 718
Clinical Genetics|January 5, 2023
DKK1 is a strong candidate for mesiodens and taurodontismPiranit Kantaputra, Peeranat Jatooratthawichot, Naomi Kottege, et al.
Clinical Genetics|January 17, 2023
Possible association of trichorhinophalangeal syndrome I and intracranial subependymomaDonald A Ross, Siren Berland, Christian A Helland, et al.
Clinical Genetics|January 18, 2023
The family reported to have X-linked Dyggve-Melchior-Clausen syndrome instead has X-linked SEDT caused by a novel TRAPPC2 frameshift variantJuan J Yunis, Luz K Yunis
Clinical Genetics|December 28, 2022
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domainLuisa Averdunk, Khalid Al-Thihli, Harald Surowy, et al.
Clinical Genetics|July 1, 2021
Recalling the pathology of Parkinson's disease; lacking exact figure of prevalence and genetic evidence in Asia with an alarming outcome: A time to step-upArif Mahmood, Abid Ali Shah, Muhammad Umair, et al.
Clinical Genetics|July 1, 2021
Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular featuresJair Antonio Tenorio-Castaño, Pedro Arias, Alberto Fernández-Jaén, et al.
Clinical Genetics|January 7, 2021
Congenital cervical spine malformation due to bi-allelic RIPPLY2 variants in spondylocostal dysostosis type 6Meret Wegler, Christian Roth, Eckehard Schumann, et al.
Clinical Genetics|January 8, 2021
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trialsAurore Garde, Laurent Guibaud, Alice Goldenberg, et al.
Clinical Genetics|June 22, 2021
How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policiesJasmijn E Klapwijk, Malgorzata I Srebniak, Attie T J I Go, et al.
Clinical Genetics|July 3, 2021
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorderStephanie Oates, Michael Absoud, Sushma Goyal, et al.
Pageof 718