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Pagnamenta

Showing results (201-210 of 265) with videos related to

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Translational Psychiatry|June 24, 2020
The role of rare compound heterozygous events in autism spectrum disorderBochao Danae Lin, Fabrice Colas, Isaac J Nijman, et al.
Human Molecular Genetics|August 22, 2015
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficienciesBiljana Ilkovski, Alistair T Pagnamenta, Gina L O'Grady, et al.
Medrxiv : the Preprint Server for Health Sciences|May 25, 2026
A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discoveryAnthony McGuigan, Alistair T Pagnamenta, Laura E Covill, et al.
Brain : a Journal of Neurology|September 24, 2013
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 geneValerio Conti, Aurelie Carabalona, Emilie Pallesi-Pocachard, et al.
HGG Advances|September 11, 2024
Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locusReza Maroofian, Alistair T Pagnamenta, Alireza Navabazam, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 13, 2019
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristicsAllan Bayat, Alexej Knaus, Annika Wollenberg Juul, et al.
Clinical Genetics|March 13, 2019
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndromeAlistair T Pagnamenta, Pamela J Kaisaki, Fenella Bennett, et al.
Molecular Psychiatry|April 30, 2009
High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibilityE Maestrini, A T Pagnamenta, J A Lamb, et al.
Clinical Genetics|March 10, 2023
The prevalence and phenotypic range associated with biallelic PKDCC variantsAlistair T Pagnamenta, Rebecca S Belles, Bonnie Anne Salbert, et al.
Nature Communications|March 13, 2021
Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shorteningRyan M Baxley, Wendy Leung, Megan M Schmit, et al.
Pageof 27

Showing results (201-210 of 265) with videos related to

Sort By:
Pageof 27
Translational Psychiatry|June 24, 2020
The role of rare compound heterozygous events in autism spectrum disorderBochao Danae Lin, Fabrice Colas, Isaac J Nijman, et al.
Human Molecular Genetics|August 22, 2015
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficienciesBiljana Ilkovski, Alistair T Pagnamenta, Gina L O'Grady, et al.
Medrxiv : the Preprint Server for Health Sciences|May 25, 2026
A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discoveryAnthony McGuigan, Alistair T Pagnamenta, Laura E Covill, et al.
Brain : a Journal of Neurology|September 24, 2013
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 geneValerio Conti, Aurelie Carabalona, Emilie Pallesi-Pocachard, et al.
HGG Advances|September 11, 2024
Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locusReza Maroofian, Alistair T Pagnamenta, Alireza Navabazam, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 13, 2019
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristicsAllan Bayat, Alexej Knaus, Annika Wollenberg Juul, et al.
Clinical Genetics|March 13, 2019
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndromeAlistair T Pagnamenta, Pamela J Kaisaki, Fenella Bennett, et al.
Molecular Psychiatry|April 30, 2009
High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibilityE Maestrini, A T Pagnamenta, J A Lamb, et al.
Clinical Genetics|March 10, 2023
The prevalence and phenotypic range associated with biallelic PKDCC variantsAlistair T Pagnamenta, Rebecca S Belles, Bonnie Anne Salbert, et al.
Nature Communications|March 13, 2021
Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shorteningRyan M Baxley, Wendy Leung, Megan M Schmit, et al.
Pageof 27