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Miriam J Smith

Showing results (41-50 of 81) with videos related to

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American Journal of Medical Genetics. Part A|November 13, 2020
The importance of genetic counseling and screening for people with pathogenic SMARCE1 variants: A family studyAlireza Shoakazemi, Alan Hewitt, Miriam J Smith, et al.
Human Mutation|June 20, 2022
Screening of potential novel candidate genes in schwannomatosis patientsCristina Perez-Becerril, Andrew J Wallace, Helene Schlecht, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 21, 2021
Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannomaD Gareth Evans, Ludwine M Messiaen, William D Foulkes, et al.
Human Mutation|December 1, 2015
The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing SyndromesMiriam J Smith, Jill E Urquhart, Elaine F Harkness, et al.
Neurosurgery|March 28, 2022
Multiple Meningiomas as a Criterion for the Diagnosis of Neurofibromatosis Type 2 and Other Tumor Predisposition SyndromesCathal John Hannan, Charlotte Hammerbeck-Ward, Omar Nathan Pathmanaban, et al.
Cancers|February 13, 2020
Risk of Contralateral Breast Cancer in Women with and without Pathogenic Variants in <i>BRCA1, BRCA2</i>, and <i>TP53</i> Genes in Women with Very Early-Onset (<36 Years) Breast CancerZerin Hyder, Elaine F Harkness, Emma R Woodward, et al.
Nature Genetics|February 5, 2013
Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomasMiriam J Smith, James O'Sullivan, Sanjeev S Bhaskar, et al.
Neurology|November 19, 2016
Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosisMiriam J Smith, Naomi L Bowers, Michael Bulman, et al.
Human Mutation|March 25, 2022
Re-evaluation of missense variant classifications in NF2Katherine V Sadler, Charlie F Rowlands, Philip T Smith, et al.
Familial Cancer|June 27, 2019
Multiple primary malignancies associated with a germline SMARCB1 pathogenic variantJudith A Eelloo, Miriam J Smith, Naomi L Bowers, et al.
Pageof 9

Showing results (41-50 of 81) with videos related to

Sort By:
Pageof 9
American Journal of Medical Genetics. Part A|November 13, 2020
The importance of genetic counseling and screening for people with pathogenic SMARCE1 variants: A family studyAlireza Shoakazemi, Alan Hewitt, Miriam J Smith, et al.
Human Mutation|June 20, 2022
Screening of potential novel candidate genes in schwannomatosis patientsCristina Perez-Becerril, Andrew J Wallace, Helene Schlecht, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 21, 2021
Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannomaD Gareth Evans, Ludwine M Messiaen, William D Foulkes, et al.
Human Mutation|December 1, 2015
The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing SyndromesMiriam J Smith, Jill E Urquhart, Elaine F Harkness, et al.
Neurosurgery|March 28, 2022
Multiple Meningiomas as a Criterion for the Diagnosis of Neurofibromatosis Type 2 and Other Tumor Predisposition SyndromesCathal John Hannan, Charlotte Hammerbeck-Ward, Omar Nathan Pathmanaban, et al.
Cancers|February 13, 2020
Risk of Contralateral Breast Cancer in Women with and without Pathogenic Variants in <i>BRCA1, BRCA2</i>, and <i>TP53</i> Genes in Women with Very Early-Onset (<36 Years) Breast CancerZerin Hyder, Elaine F Harkness, Emma R Woodward, et al.
Nature Genetics|February 5, 2013
Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomasMiriam J Smith, James O'Sullivan, Sanjeev S Bhaskar, et al.
Neurology|November 19, 2016
Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosisMiriam J Smith, Naomi L Bowers, Michael Bulman, et al.
Human Mutation|March 25, 2022
Re-evaluation of missense variant classifications in NF2Katherine V Sadler, Charlie F Rowlands, Philip T Smith, et al.
Familial Cancer|June 27, 2019
Multiple primary malignancies associated with a germline SMARCB1 pathogenic variantJudith A Eelloo, Miriam J Smith, Naomi L Bowers, et al.
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