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Jennie Murray

Showing results (1-10 of 10) with videos related to

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Developmental Medicine and Child Neurology|November 9, 2012
Murray and Jackson replyJennie Murray, Andrew Jackson
American Journal of Medical Genetics. Part A|December 18, 2020
Successful pregnancies in an adult with Meier-Gorlin syndrome harboring biallelic CDT1 variantsKaren M Knapp, Jennie Murray, I Karen Temple, et al.
Journal of Medical Genetics|March 26, 2024
Extent of investigation and management of cases of 'unexplained' mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensusTerri Patricia McVeigh, Kevin J Monahan, Joseph Christopher, et al.
Journal of Medical Genetics|December 1, 2019
Linked-read genome sequencing identifies biallelic pathogenic variants in <i>DONSON</i> as a novel cause of Meier-Gorlin syndromeKaren M Knapp, Rosie Sullivan, Jennie Murray, et al.
European Journal of Human Genetics : EJHG|March 3, 2021
MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiencyKaren M Knapp, Danielle E Jenkins, Rosie Sullivan, et al.
Pediatric Pulmonology|August 8, 2024
Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesiaHolly A Black, Sophie Marion de Proce, Jose L Campos, et al.
Journal of Medical Genetics|November 21, 2022
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: <i>RAD51C</i>, <i>RAD51D</i>, <i>BRIP1</i> and <i>PALB2</i>Helen Hanson, Anjana Kulkarni, Lucy Loong, et al.
The Journal of Pediatrics|November 5, 2011
Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropeniaKaan Boztug, Philip S Rosenberg, Marie Dorda, et al.
American Journal of Human Genetics|July 5, 2016
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and CraniosynostosisAimee L Fenwick, Maciej Kliszczak, Fay Cooper, et al.
Breast Cancer Research : BCR|June 20, 2023
Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort ConsortiumKarin Kast, Esther M John, John L Hopper, et al.
Pageof 1

Showing results (1-10 of 10) with videos related to

Sort By:
Pageof 1
Developmental Medicine and Child Neurology|November 9, 2012
Murray and Jackson replyJennie Murray, Andrew Jackson
American Journal of Medical Genetics. Part A|December 18, 2020
Successful pregnancies in an adult with Meier-Gorlin syndrome harboring biallelic CDT1 variantsKaren M Knapp, Jennie Murray, I Karen Temple, et al.
Journal of Medical Genetics|March 26, 2024
Extent of investigation and management of cases of 'unexplained' mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensusTerri Patricia McVeigh, Kevin J Monahan, Joseph Christopher, et al.
Journal of Medical Genetics|December 1, 2019
Linked-read genome sequencing identifies biallelic pathogenic variants in <i>DONSON</i> as a novel cause of Meier-Gorlin syndromeKaren M Knapp, Rosie Sullivan, Jennie Murray, et al.
European Journal of Human Genetics : EJHG|March 3, 2021
MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiencyKaren M Knapp, Danielle E Jenkins, Rosie Sullivan, et al.
Pediatric Pulmonology|August 8, 2024
Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesiaHolly A Black, Sophie Marion de Proce, Jose L Campos, et al.
Journal of Medical Genetics|November 21, 2022
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: <i>RAD51C</i>, <i>RAD51D</i>, <i>BRIP1</i> and <i>PALB2</i>Helen Hanson, Anjana Kulkarni, Lucy Loong, et al.
The Journal of Pediatrics|November 5, 2011
Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropeniaKaan Boztug, Philip S Rosenberg, Marie Dorda, et al.
American Journal of Human Genetics|July 5, 2016
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and CraniosynostosisAimee L Fenwick, Maciej Kliszczak, Fay Cooper, et al.
Breast Cancer Research : BCR|June 20, 2023
Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort ConsortiumKarin Kast, Esther M John, John L Hopper, et al.
Pageof 1