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Taila Hartley

Showing results (11-20 of 86) with videos related to

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European Journal of Medical Genetics|May 10, 2019
A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1FEndre Pál, Judith Zima, Kinga Hadzsiev, et al.
Human Mutation|December 2, 2017
Evaluation of exome filtering techniques for the analysis of clinically relevant genesKristin D Kernohan, Taila Hartley, Najmeh Alirezaie, et al.
Journal of Human Genetics|February 24, 2017
Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1Priya T Bhola, Taila Hartley, Eric Bareke, et al.
American Journal of Medical Genetics. Part A|January 13, 2016
Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutationResham Ejaz, Wen Qin, Lijia Huang, et al.
European Journal of Medical Genetics|October 26, 2017
A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literatureDanielle K Bourque, Taila Hartley, Sarah M Nikkel, et al.
Clinical Genetics|August 9, 2019
p21 protein-activated kinase 1 is associated with severe regressive autism, and epilepsyKristin D Kernohan, Arran McBride, Taila Hartley, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|December 24, 2018
The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM®Taila Hartley, Tuğçe B Balcı, Samantha K Rojas, et al.
Molecular Genetics & Genomic Medicine|September 22, 2016
Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient careAlison Hamilton, Martine Tétreault, David A Dyment, et al.
Clinical Genetics|March 13, 2020
When to think outside the autozygome: Best practices for exome sequencing in "consanguineous" familiesAlison Eaton, Taila Hartley, Kristin Kernohan, et al.
American Journal of Medical Genetics. Part A|September 17, 2016
A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) geneMałgorzata J M Nowaczyk, Lijia Huang, Mark Tarnopolsky, et al.
Pageof 9

Showing results (11-20 of 86) with videos related to

Sort By:
Pageof 9
European Journal of Medical Genetics|May 10, 2019
A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1FEndre Pál, Judith Zima, Kinga Hadzsiev, et al.
Human Mutation|December 2, 2017
Evaluation of exome filtering techniques for the analysis of clinically relevant genesKristin D Kernohan, Taila Hartley, Najmeh Alirezaie, et al.
Journal of Human Genetics|February 24, 2017
Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1Priya T Bhola, Taila Hartley, Eric Bareke, et al.
American Journal of Medical Genetics. Part A|January 13, 2016
Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutationResham Ejaz, Wen Qin, Lijia Huang, et al.
European Journal of Medical Genetics|October 26, 2017
A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literatureDanielle K Bourque, Taila Hartley, Sarah M Nikkel, et al.
Clinical Genetics|August 9, 2019
p21 protein-activated kinase 1 is associated with severe regressive autism, and epilepsyKristin D Kernohan, Arran McBride, Taila Hartley, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|December 24, 2018
The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM®Taila Hartley, Tuğçe B Balcı, Samantha K Rojas, et al.
Molecular Genetics & Genomic Medicine|September 22, 2016
Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient careAlison Hamilton, Martine Tétreault, David A Dyment, et al.
Clinical Genetics|March 13, 2020
When to think outside the autozygome: Best practices for exome sequencing in "consanguineous" familiesAlison Eaton, Taila Hartley, Kristin Kernohan, et al.
American Journal of Medical Genetics. Part A|September 17, 2016
A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) geneMałgorzata J M Nowaczyk, Lijia Huang, Mark Tarnopolsky, et al.
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