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Kym M Boycott

Showing results (91-100 of 239) with videos related to

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Orphanet Journal of Rare Diseases|September 19, 2012
Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxiaLijia Huang, Jodi Warman Chardon, Melissa T Carter, et al.
American Journal of Medical Genetics. Part A|May 11, 2017
Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohortFaheem Malam, Taila Hartley, Meredith K Gillespie, et al.
Orphanet Journal of Rare Diseases|June 19, 2012
A generalizable pre-clinical research approach for orphan disease therapyChandree L Beaulieu, Mark E Samuels, Sean Ekins, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2026
A comprehensive approach to evaluating the clinical utility of genome sequencing in rare disease: A large prospective Canadian cohortSalma Shickh, Katharine Fooks, Viji Venkataramanan, et al.
Human Mutation|February 28, 2022
ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease researchJ Michael Harnish, Lucian Li, Sanja Rogic, et al.
Medrxiv : the Preprint Server for Health Sciences|January 27, 2025
<i>NUBP2</i> deficiency disrupts the centrosome-check point in the brain and causes primary microcephalyRebekah Rushforth, Hanan E Shamseldin, Nicole Costantino, et al.
Human Mutation|May 3, 2013
PhenoTips: patient phenotyping software for clinical and research useMarta Girdea, Sergiu Dumitriu, Marc Fiume, et al.
European Journal of Human Genetics : EJHG|November 22, 2017
The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impactHanns Lochmüller, Josep Torrent I Farnell, Yann Le Cam, et al.
Nature Communications|November 4, 2023
Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasiaOphélie Gourgas, Gabrielle Lemire, Alison J Eaton, et al.
Cancer Discovery|December 5, 2014
Biallelic mutations in BRCA1 cause a new Fanconi anemia subtypeSarah L Sawyer, Lei Tian, Marketta Kähkönen, et al.
Pageof 24

Showing results (91-100 of 239) with videos related to

Sort By:
Pageof 24
Orphanet Journal of Rare Diseases|September 19, 2012
Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxiaLijia Huang, Jodi Warman Chardon, Melissa T Carter, et al.
American Journal of Medical Genetics. Part A|May 11, 2017
Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohortFaheem Malam, Taila Hartley, Meredith K Gillespie, et al.
Orphanet Journal of Rare Diseases|June 19, 2012
A generalizable pre-clinical research approach for orphan disease therapyChandree L Beaulieu, Mark E Samuels, Sean Ekins, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2026
A comprehensive approach to evaluating the clinical utility of genome sequencing in rare disease: A large prospective Canadian cohortSalma Shickh, Katharine Fooks, Viji Venkataramanan, et al.
Human Mutation|February 28, 2022
ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease researchJ Michael Harnish, Lucian Li, Sanja Rogic, et al.
Medrxiv : the Preprint Server for Health Sciences|January 27, 2025
<i>NUBP2</i> deficiency disrupts the centrosome-check point in the brain and causes primary microcephalyRebekah Rushforth, Hanan E Shamseldin, Nicole Costantino, et al.
Human Mutation|May 3, 2013
PhenoTips: patient phenotyping software for clinical and research useMarta Girdea, Sergiu Dumitriu, Marc Fiume, et al.
European Journal of Human Genetics : EJHG|November 22, 2017
The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impactHanns Lochmüller, Josep Torrent I Farnell, Yann Le Cam, et al.
Nature Communications|November 4, 2023
Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasiaOphélie Gourgas, Gabrielle Lemire, Alison J Eaton, et al.
Cancer Discovery|December 5, 2014
Biallelic mutations in BRCA1 cause a new Fanconi anemia subtypeSarah L Sawyer, Lei Tian, Marketta Kähkönen, et al.
Pageof 24