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Judith Allanson

Showing results (81-90 of 95) with videos related to

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European Journal of Human Genetics : EJHG|October 16, 2008
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndromeThomas E Neumann, Judith Allanson, Ines Kavamura, et al.
BJGP Open|November 14, 2025
Family physicians' experiences with an electronic medical record-integrated family history collection strategy: a qualitative studySakina Walji, Tutsirai Makuwaza, Erin Bearss, et al.
American Journal of Medical Genetics. Part A|July 24, 2012
Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotypeJudith Allanson, Amanda Smith, Heather Hare, et al.
Communications Biology|January 29, 2023
Distributed harmonic patterns of structure-function dependence orchestrate human consciousnessAndrea I Luppi, Jakub Vohryzek, Morten L Kringelbach, et al.
JMIR Research Protocols|June 27, 2022
Standardizing Cranioplasty Outcomes Following Stroke or Traumatic Brain Injury: Protocol for the Development of a Core Outcome SetHarry Mee, Ana M Castaño-Leon, Ivan Timofeev, et al.
Journal of Medical Genetics|June 26, 2007
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndromeMartin Zenker, Denise Horn, Dagmar Wieczorek, et al.
American Journal of Medical Genetics. Part A|April 23, 2015
The third international meeting on genetic disorders in the RAS/MAPK pathway: towards a therapeutic approachBruce Korf, Reza Ahmadian, Judith Allanson, et al.
Scientific Reports|February 7, 2018
Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathiesGordon K C Leung, H M Luk, Vincent H M Tang, et al.
Nature Genetics|March 3, 2004
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesisDeborah Krakow, Stephen P Robertson, Lily M King, et al.
American Journal of Human Genetics|January 24, 2012
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndromeRebecca L Hood, Matthew A Lines, Sarah M Nikkel, et al.
Pageof 10

Showing results (81-90 of 95) with videos related to

Sort By:
Pageof 10
European Journal of Human Genetics : EJHG|October 16, 2008
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndromeThomas E Neumann, Judith Allanson, Ines Kavamura, et al.
BJGP Open|November 14, 2025
Family physicians' experiences with an electronic medical record-integrated family history collection strategy: a qualitative studySakina Walji, Tutsirai Makuwaza, Erin Bearss, et al.
American Journal of Medical Genetics. Part A|July 24, 2012
Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotypeJudith Allanson, Amanda Smith, Heather Hare, et al.
Communications Biology|January 29, 2023
Distributed harmonic patterns of structure-function dependence orchestrate human consciousnessAndrea I Luppi, Jakub Vohryzek, Morten L Kringelbach, et al.
JMIR Research Protocols|June 27, 2022
Standardizing Cranioplasty Outcomes Following Stroke or Traumatic Brain Injury: Protocol for the Development of a Core Outcome SetHarry Mee, Ana M Castaño-Leon, Ivan Timofeev, et al.
Journal of Medical Genetics|June 26, 2007
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndromeMartin Zenker, Denise Horn, Dagmar Wieczorek, et al.
American Journal of Medical Genetics. Part A|April 23, 2015
The third international meeting on genetic disorders in the RAS/MAPK pathway: towards a therapeutic approachBruce Korf, Reza Ahmadian, Judith Allanson, et al.
Scientific Reports|February 7, 2018
Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathiesGordon K C Leung, H M Luk, Vincent H M Tang, et al.
Nature Genetics|March 3, 2004
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesisDeborah Krakow, Stephen P Robertson, Lily M King, et al.
American Journal of Human Genetics|January 24, 2012
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndromeRebecca L Hood, Matthew A Lines, Sarah M Nikkel, et al.
Pageof 10