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Kym M Boycott

Showing results (181-190 of 239) with videos related to

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American Journal of Human Genetics|September 29, 2021
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomaliesGabrielle Lemire, Yoko A Ito, Aren E Marshall, et al.
Orphanet Journal of Rare Diseases|June 30, 2017
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxiaJessica L Zambonin, Allison Bellomo, Hilla Ben-Pazi, et al.
American Journal of Human Genetics|June 5, 2013
A recurrent PDGFRB mutation causes familial infantile myofibromatosisYee Him Cheung, Tenzin Gayden, Philippe M Campeau, et al.
Human Mutation|February 19, 2022
Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discoveryHannah G Driver, Taila Hartley, E Magda Price, et al.
American Journal of Human Genetics|March 5, 2016
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous LipomatosisJames T Bennett, Tiong Yang Tan, Diana Alcantara, et al.
American Journal of Human Genetics|February 7, 2012
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephalyMatthew A Lines, Lijia Huang, Jeremy Schwartzentruber, et al.
American Journal of Human Genetics|December 7, 2015
Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8Kym M Boycott, Chandree L Beaulieu, Kristin D Kernohan, et al.
Genetics in Medicine Open|October 15, 2025
How does personal utility depend on clinical setting? Evidence from 3 cohortsElise Poole, Stephanie Luca, Daniel Assamad, et al.
Journal of Inherited Metabolic Disease|June 27, 2020
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literatureDevon L Johnstone, Thi Tuyet Mai Nguyen, Jessica Zambonin, et al.
Human Mutation|October 17, 2025
One-Sided Matching Portal (OSMP): A Tool to Facilitate Rare Disease Patient MatchmakingMatthew Osmond, E Magda Price, Orion J Buske, et al.
Pageof 24

Showing results (181-190 of 239) with videos related to

Sort By:
Pageof 24
American Journal of Human Genetics|September 29, 2021
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomaliesGabrielle Lemire, Yoko A Ito, Aren E Marshall, et al.
Orphanet Journal of Rare Diseases|June 30, 2017
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxiaJessica L Zambonin, Allison Bellomo, Hilla Ben-Pazi, et al.
American Journal of Human Genetics|June 5, 2013
A recurrent PDGFRB mutation causes familial infantile myofibromatosisYee Him Cheung, Tenzin Gayden, Philippe M Campeau, et al.
Human Mutation|February 19, 2022
Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discoveryHannah G Driver, Taila Hartley, E Magda Price, et al.
American Journal of Human Genetics|March 5, 2016
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous LipomatosisJames T Bennett, Tiong Yang Tan, Diana Alcantara, et al.
American Journal of Human Genetics|February 7, 2012
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephalyMatthew A Lines, Lijia Huang, Jeremy Schwartzentruber, et al.
American Journal of Human Genetics|December 7, 2015
Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8Kym M Boycott, Chandree L Beaulieu, Kristin D Kernohan, et al.
Genetics in Medicine Open|October 15, 2025
How does personal utility depend on clinical setting? Evidence from 3 cohortsElise Poole, Stephanie Luca, Daniel Assamad, et al.
Journal of Inherited Metabolic Disease|June 27, 2020
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literatureDevon L Johnstone, Thi Tuyet Mai Nguyen, Jessica Zambonin, et al.
Human Mutation|October 17, 2025
One-Sided Matching Portal (OSMP): A Tool to Facilitate Rare Disease Patient MatchmakingMatthew Osmond, E Magda Price, Orion J Buske, et al.
Pageof 24