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Victoria Mok Siu

Showing results (11-20 of 36) with videos related to

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Molecular Syndromology|June 28, 2021
Potential Pitfalls in Pre-implantation Genetic Diagnosis in a Patient with Tuberous Sclerosis and Isolated Mosaicism for a <i>TSC2</i> Variant in Renal TissueKristin M Ikeda, Andrew A House, Dervla M Connaughton, et al.
BMC Medical Genetics|March 4, 2006
Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletionsRaihan K Uddin, Yang Zhang, Victoria Mok Siu, et al.
Clinical Case Reports|August 28, 2023
Dual diagnosis of trisomy 21 and lethal perinatal Gaucher disease as a cause of non-immune hydrops fetalis in a twin pregnancy for a consanguineous coupleTalib Al Harthy, Samantha Colaiacovo, Robert J Gratton, et al.
American Journal of Medical Genetics. Part A|October 12, 2020
A novel homozygous variant in REN in a family presenting with classic features of disorders involving the renin-angiotensin pathway, without renal tubular dysgenesisAllison A Dilliott, Jian Wang, Emma Brown, et al.
Canadian Journal of Dietetic Practice and Research : a Publication of Dietitians of Canada = Revue Canadienne De La Pratique Et De La Recherche En Dietetique : Une Publication Des Dietetistes Du Canada|August 12, 2024
Vitamin D, Folate, Vitamin B<sub>12</sub>, and Iron Status in Pregnant/Postpartum Old Order Anabaptist Women in Southwestern OntarioJanis A Randall Simpson, Natalee Miller, Taylor Hartwig, et al.
NAR Molecular Medicine|February 25, 2026
Inhibition of the integrated stress response rescues a histidyl-tRNA synthetase variant associated with Charcot-Marie-Tooth diseaseMaria Mahmood, Sarah D P Wilhelm, Marisa I Mendes, et al.
International Journal of Molecular Sciences|January 27, 2021
Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield TypeSadegheh Haghshenas, Michael A Levy, Jennifer Kerkhof, et al.
Journal of Human Genetics|October 23, 2020
Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern OntarioErfan Aref-Eshghi, Jennifer Kerkhof, Deana Alexis Carere, et al.
American Journal of Medical Genetics. Part A|January 18, 2019
Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrumEbba Alkhunaizi, Shirley Shuster, Patrick Shannon, et al.
Frontiers in Genetics|January 9, 2019
<i>MECP2</i> Mutation Interrupts Nucleolin-mTOR-P70S6K Signaling in Rett Syndrome PatientsCarl O Olson, Shervin Pejhan, Daniel Kroft, et al.
Pageof 4

Showing results (11-20 of 36) with videos related to

Sort By:
Pageof 4
Molecular Syndromology|June 28, 2021
Potential Pitfalls in Pre-implantation Genetic Diagnosis in a Patient with Tuberous Sclerosis and Isolated Mosaicism for a <i>TSC2</i> Variant in Renal TissueKristin M Ikeda, Andrew A House, Dervla M Connaughton, et al.
BMC Medical Genetics|March 4, 2006
Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletionsRaihan K Uddin, Yang Zhang, Victoria Mok Siu, et al.
Clinical Case Reports|August 28, 2023
Dual diagnosis of trisomy 21 and lethal perinatal Gaucher disease as a cause of non-immune hydrops fetalis in a twin pregnancy for a consanguineous coupleTalib Al Harthy, Samantha Colaiacovo, Robert J Gratton, et al.
American Journal of Medical Genetics. Part A|October 12, 2020
A novel homozygous variant in REN in a family presenting with classic features of disorders involving the renin-angiotensin pathway, without renal tubular dysgenesisAllison A Dilliott, Jian Wang, Emma Brown, et al.
Canadian Journal of Dietetic Practice and Research : a Publication of Dietitians of Canada = Revue Canadienne De La Pratique Et De La Recherche En Dietetique : Une Publication Des Dietetistes Du Canada|August 12, 2024
Vitamin D, Folate, Vitamin B<sub>12</sub>, and Iron Status in Pregnant/Postpartum Old Order Anabaptist Women in Southwestern OntarioJanis A Randall Simpson, Natalee Miller, Taylor Hartwig, et al.
NAR Molecular Medicine|February 25, 2026
Inhibition of the integrated stress response rescues a histidyl-tRNA synthetase variant associated with Charcot-Marie-Tooth diseaseMaria Mahmood, Sarah D P Wilhelm, Marisa I Mendes, et al.
International Journal of Molecular Sciences|January 27, 2021
Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield TypeSadegheh Haghshenas, Michael A Levy, Jennifer Kerkhof, et al.
Journal of Human Genetics|October 23, 2020
Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern OntarioErfan Aref-Eshghi, Jennifer Kerkhof, Deana Alexis Carere, et al.
American Journal of Medical Genetics. Part A|January 18, 2019
Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrumEbba Alkhunaizi, Shirley Shuster, Patrick Shannon, et al.
Frontiers in Genetics|January 9, 2019
<i>MECP2</i> Mutation Interrupts Nucleolin-mTOR-P70S6K Signaling in Rett Syndrome PatientsCarl O Olson, Shervin Pejhan, Daniel Kroft, et al.
Pageof 4