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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 syndrome
Thomas 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 study
Sakina 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 phenotype
Judith Allanson, Amanda Smith, Heather Hare, et al.
Communications Biology
|
January 29, 2023
Distributed harmonic patterns of structure-function dependence orchestrate human consciousness
Andrea 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 Set
Harry 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 syndrome
Martin 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 approach
Bruce Korf, Reza Ahmadian, Judith Allanson, et al.
Scientific Reports
|
February 7, 2018
Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies
Gordon 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 skeletogenesis
Deborah 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 syndrome
Rebecca L Hood, Matthew A Lines, Sarah M Nikkel, et al.
Page
of 10
Search research articles
Search
Showing results (81-90 of 95) with videos related to
Sort By:
Page
of 10
European Journal of Human Genetics : EJHG
|
October 16, 2008
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome
Thomas 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 study
Sakina 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 phenotype
Judith Allanson, Amanda Smith, Heather Hare, et al.
Communications Biology
|
January 29, 2023
Distributed harmonic patterns of structure-function dependence orchestrate human consciousness
Andrea 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 Set
Harry 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 syndrome
Martin 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 approach
Bruce Korf, Reza Ahmadian, Judith Allanson, et al.
Scientific Reports
|
February 7, 2018
Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies
Gordon 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 skeletogenesis
Deborah 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 syndrome
Rebecca L Hood, Matthew A Lines, Sarah M Nikkel, et al.
Page
of 10