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Emma McCann

Showing results (41-50 of 54) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2021
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosisZerin Hyder, Eduardo Calpena, Yang Pei, et al.
Genome Research|December 28, 2018
Pathogenicity and selective constraint on variation near splice sitesJenny Lord, Giuseppe Gallone, Patrick J Short, et al.
Journal of the National Cancer Institute|May 1, 2013
Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACENasim Mavaddat, Susan Peock, Debra Frost, et al.
Journal of Nephrology|January 30, 2025
The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney diseaseElhussein A E Elhassan, Kane E Collins, Sophia Heneghan, et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology|March 20, 2014
Lymphocyte telomere length is long in BRCA1 and BRCA2 mutation carriers regardless of cancer-affected statusKaren A Pooley, Lesley McGuffog, Daniel Barrowdale, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|May 19, 2025
Genotype-Phenotype Correlations and Clinical Outcomes of Genetic TRPC6 PodocytopathiesSusan M McAnallen, Elhussein A E Elhassan, Sinead Stoneman, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 15, 2023
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic DesignJussi Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon McGowan, et al.
American Journal of Human Genetics|March 2, 2005
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutationsJennifer J Johnston, Isabelle Olivos-Glander, Christina Killoran, et al.
Brain : a Journal of Neurology|September 8, 2022
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsyKari A Mattison, Gilles Tossing, Fred Mulroe, et al.
Human Genetics|May 24, 2024
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromesNiels Vos, Sadegheh Haghshenas, Liselot van der Laan, et al.
Pageof 6

Showing results (41-50 of 54) with videos related to

Sort By:
Pageof 6
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2021
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosisZerin Hyder, Eduardo Calpena, Yang Pei, et al.
Genome Research|December 28, 2018
Pathogenicity and selective constraint on variation near splice sitesJenny Lord, Giuseppe Gallone, Patrick J Short, et al.
Journal of the National Cancer Institute|May 1, 2013
Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACENasim Mavaddat, Susan Peock, Debra Frost, et al.
Journal of Nephrology|January 30, 2025
The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney diseaseElhussein A E Elhassan, Kane E Collins, Sophia Heneghan, et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology|March 20, 2014
Lymphocyte telomere length is long in BRCA1 and BRCA2 mutation carriers regardless of cancer-affected statusKaren A Pooley, Lesley McGuffog, Daniel Barrowdale, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|May 19, 2025
Genotype-Phenotype Correlations and Clinical Outcomes of Genetic TRPC6 PodocytopathiesSusan M McAnallen, Elhussein A E Elhassan, Sinead Stoneman, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 15, 2023
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic DesignJussi Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon McGowan, et al.
American Journal of Human Genetics|March 2, 2005
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutationsJennifer J Johnston, Isabelle Olivos-Glander, Christina Killoran, et al.
Brain : a Journal of Neurology|September 8, 2022
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsyKari A Mattison, Gilles Tossing, Fred Mulroe, et al.
Human Genetics|May 24, 2024
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromesNiels Vos, Sadegheh Haghshenas, Liselot van der Laan, et al.
Pageof 6