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Miriam J Smith

Showing results (21-30 of 81) with videos related to

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Journal of Medical Genetics|February 1, 2024
Improved sensitivity for detection of pathogenic variants in familial <i>NF2</i>-related schwannomatosisCristina Perez-Becerril, George J Burghel, Claire Hartley, et al.
Familial Cancer|March 25, 2014
Intronic splicing mutations in PTCH1 cause Gorlin syndromeZaynab Bholah, Miriam J Smith, Helen J Byers, et al.
Journal of Medical Genetics|June 10, 2017
First evidence of genotype-phenotype correlations in Gorlin syndromeD Gareth Evans, Deemesh Oudit, Miriam J Smith, et al.
Plos One|April 27, 2010
Characterization of age-dependent and progressive cortical neuronal degeneration in presenilin conditional mutant miceMary Wines-Samuelson, Eva C Schulte, Miriam J Smith, et al.
Molecular Syndromology|August 29, 2025
A Novel <i>PTCH1</i> Non-Canonical Splice Region Variant Associated with Gorlin Syndrome: A Case ReportMiriam J Smith, Emily-Jayne Shell, George J Burghel, et al.
Brain Communications|June 11, 2026
T-cell-targeted immunotherapy in neurofibromatosis type 2-related vestibular schwannoma: current evidence and future directionReygn J Done, Omar Ahmid, Miriam J Smith, et al.
Journal of Medical Genetics|January 30, 2021
Targeting lung cancer screening to individuals at greatest risk: the role of genetic factorsMikey B Lebrett, Emma J Crosbie, Miriam J Smith, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 28, 2022
High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancerNicola Flaum, Emma J Crosbie, Richard Edmondson, et al.
Scandinavian Journal of Medicine & Science in Sports|July 11, 2026
Persistent Human Quadriceps Muscle Volume Deficits Following ACL Reconstruction Are Associated With No Detectable Between-Leg Differences in Vastus Lateralis Muscle Signaling at Rest or Immediately Following Resistance ExerciseMiriam J Smith, Mehdi R Belhaj, Ryan G Timmins, et al.
Journal of Neurosurgery. Pediatrics|June 27, 2015
SMARCE1 mutations in pediatric clear cell meningioma: case reportLinton T Evans, Jack Van Hoff, William F Hickey, et al.
Pageof 9

Showing results (21-30 of 81) with videos related to

Sort By:
Pageof 9
Journal of Medical Genetics|February 1, 2024
Improved sensitivity for detection of pathogenic variants in familial <i>NF2</i>-related schwannomatosisCristina Perez-Becerril, George J Burghel, Claire Hartley, et al.
Familial Cancer|March 25, 2014
Intronic splicing mutations in PTCH1 cause Gorlin syndromeZaynab Bholah, Miriam J Smith, Helen J Byers, et al.
Journal of Medical Genetics|June 10, 2017
First evidence of genotype-phenotype correlations in Gorlin syndromeD Gareth Evans, Deemesh Oudit, Miriam J Smith, et al.
Plos One|April 27, 2010
Characterization of age-dependent and progressive cortical neuronal degeneration in presenilin conditional mutant miceMary Wines-Samuelson, Eva C Schulte, Miriam J Smith, et al.
Molecular Syndromology|August 29, 2025
A Novel <i>PTCH1</i> Non-Canonical Splice Region Variant Associated with Gorlin Syndrome: A Case ReportMiriam J Smith, Emily-Jayne Shell, George J Burghel, et al.
Brain Communications|June 11, 2026
T-cell-targeted immunotherapy in neurofibromatosis type 2-related vestibular schwannoma: current evidence and future directionReygn J Done, Omar Ahmid, Miriam J Smith, et al.
Journal of Medical Genetics|January 30, 2021
Targeting lung cancer screening to individuals at greatest risk: the role of genetic factorsMikey B Lebrett, Emma J Crosbie, Miriam J Smith, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 28, 2022
High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancerNicola Flaum, Emma J Crosbie, Richard Edmondson, et al.
Scandinavian Journal of Medicine & Science in Sports|July 11, 2026
Persistent Human Quadriceps Muscle Volume Deficits Following ACL Reconstruction Are Associated With No Detectable Between-Leg Differences in Vastus Lateralis Muscle Signaling at Rest or Immediately Following Resistance ExerciseMiriam J Smith, Mehdi R Belhaj, Ryan G Timmins, et al.
Journal of Neurosurgery. Pediatrics|June 27, 2015
SMARCE1 mutations in pediatric clear cell meningioma: case reportLinton T Evans, Jack Van Hoff, William F Hickey, et al.
Pageof 9