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Alistair T Pagnamenta

Showing results (1-10 of 108) with videos related to

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Bioinformatics (Oxford, England)|February 16, 2020
MichelaNglo: sculpting protein views on web pages without codingMatteo P Ferla, Alistair T Pagnamenta, David Damerell, et al.
Journal of Molecular Biology|June 6, 2022
Venus: Elucidating the Impact of Amino Acid Variants on Protein Function Beyond Structure DestabilisationMatteo P Ferla, Alistair T Pagnamenta, Leonidas Koukouflis, et al.
Clinical Genetics|May 9, 2023
Genome sequencing identifies KMT2E-disrupting cryptic structural variant in a female with O'Donnell-Luria-Rodan syndromeMona Hashim, Helen Stewart, Jing Yu, et al.
American Journal of Medical Genetics. Part A|March 18, 2026
Refinement of Connective Tissue Disorder Diagnosis From Marfan to Loeys-Dietz Syndrome Type 4-End of a 30-Year Diagnostic OdysseyNeel Kothari, Nora Shannon, Bara Erhayiem, et al.
Frontiers in Immunology|June 25, 2019
Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic MethodsAdrian M Shields, Alistair T Pagnamenta, Andrew J Pollard, et al.
Stem Cell Research & Therapy|August 29, 2019
Frequent retrotransposition of endogenous genes in ERCC2-deficient cells derived from a patient with xeroderma pigmentosumSaki Aoto, Saki Katagiri, Yi Wang, et al.
Clinical Genetics|February 2, 2025
A Cryptic CBFB Deletion-Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial DysplasiaAlistair T Pagnamenta, Mona Hashim, Joanna Kennedy, et al.
Clinical Case Reports|October 21, 2016
Activation of an exonic splice-donor site in exon 30 of <i>CDK5RAP2</i> in a patient with severe microcephaly and pigmentary abnormalitiesAlistair T Pagnamenta, Malcolm F Howard, Samantha J L Knight, et al.
Human Mutation|March 25, 2018
A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephalyAlistair T Pagnamenta, Yoshiko Murakami, Consuelo Anzilotti, et al.
Journal of the Endocrine Society|June 7, 2022
The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome SequencingMark Stevenson, Alistair T Pagnamenta, Heather G Mack, et al.
Pageof 11

Showing results (1-10 of 108) with videos related to

Sort By:
Pageof 11
Bioinformatics (Oxford, England)|February 16, 2020
MichelaNglo: sculpting protein views on web pages without codingMatteo P Ferla, Alistair T Pagnamenta, David Damerell, et al.
Journal of Molecular Biology|June 6, 2022
Venus: Elucidating the Impact of Amino Acid Variants on Protein Function Beyond Structure DestabilisationMatteo P Ferla, Alistair T Pagnamenta, Leonidas Koukouflis, et al.
Clinical Genetics|May 9, 2023
Genome sequencing identifies KMT2E-disrupting cryptic structural variant in a female with O'Donnell-Luria-Rodan syndromeMona Hashim, Helen Stewart, Jing Yu, et al.
American Journal of Medical Genetics. Part A|March 18, 2026
Refinement of Connective Tissue Disorder Diagnosis From Marfan to Loeys-Dietz Syndrome Type 4-End of a 30-Year Diagnostic OdysseyNeel Kothari, Nora Shannon, Bara Erhayiem, et al.
Frontiers in Immunology|June 25, 2019
Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic MethodsAdrian M Shields, Alistair T Pagnamenta, Andrew J Pollard, et al.
Stem Cell Research & Therapy|August 29, 2019
Frequent retrotransposition of endogenous genes in ERCC2-deficient cells derived from a patient with xeroderma pigmentosumSaki Aoto, Saki Katagiri, Yi Wang, et al.
Clinical Genetics|February 2, 2025
A Cryptic CBFB Deletion-Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial DysplasiaAlistair T Pagnamenta, Mona Hashim, Joanna Kennedy, et al.
Clinical Case Reports|October 21, 2016
Activation of an exonic splice-donor site in exon 30 of <i>CDK5RAP2</i> in a patient with severe microcephaly and pigmentary abnormalitiesAlistair T Pagnamenta, Malcolm F Howard, Samantha J L Knight, et al.
Human Mutation|March 25, 2018
A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephalyAlistair T Pagnamenta, Yoshiko Murakami, Consuelo Anzilotti, et al.
Journal of the Endocrine Society|June 7, 2022
The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome SequencingMark Stevenson, Alistair T Pagnamenta, Heather G Mack, et al.
Pageof 11