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Eric Legius

Showing results (141-150 of 165) with videos related to

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Human Mutation|November 20, 2010
Legius syndrome in fourteen familiesEllen Denayer, Magdalena Chmara, Hilde Brems, et al.
American Journal of Medical Genetics. Part A|January 9, 2020
Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathiesAndrea M Gross, Megan Frone, Karen W Gripp, et al.
Iscience|February 23, 2023
Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosisMiriam Magallón-Lorenz, Ernest Terribas, Sara Ortega-Bertran, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 16, 2013
Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorderDouglas R Stewart, Hilde Brems, Alicia G Gomes, et al.
The Journal of Allergy and Clinical Immunology|January 15, 2017
Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signalingIsabelle Melki, Yoann Rose, Carolina Uggenti, et al.
European Journal of Human Genetics : EJHG|January 20, 2005
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsiaSusanne Kohl, Balazs Varsanyi, Gesine Abadin Antunes, et al.
European Journal of Medical Genetics|October 21, 2022
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohortLinda A J Hendricks, Nicoline Hoogerbrugge, Hanka Venselaar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2021
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendationEric Legius, Ludwine Messiaen, Pierre Wolkenstein, et al.
American Journal of Medical Genetics. Part A|March 26, 2019
First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeuticsKatherine A Rauen, Abeer Alsaegh, Shay Ben-Shachar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 8, 2022
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendationScott R Plotkin, Ludwine Messiaen, Eric Legius, et al.
Pageof 17

Showing results (141-150 of 165) with videos related to

Sort By:
Pageof 17
Human Mutation|November 20, 2010
Legius syndrome in fourteen familiesEllen Denayer, Magdalena Chmara, Hilde Brems, et al.
American Journal of Medical Genetics. Part A|January 9, 2020
Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathiesAndrea M Gross, Megan Frone, Karen W Gripp, et al.
Iscience|February 23, 2023
Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosisMiriam Magallón-Lorenz, Ernest Terribas, Sara Ortega-Bertran, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 16, 2013
Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorderDouglas R Stewart, Hilde Brems, Alicia G Gomes, et al.
The Journal of Allergy and Clinical Immunology|January 15, 2017
Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signalingIsabelle Melki, Yoann Rose, Carolina Uggenti, et al.
European Journal of Human Genetics : EJHG|January 20, 2005
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsiaSusanne Kohl, Balazs Varsanyi, Gesine Abadin Antunes, et al.
European Journal of Medical Genetics|October 21, 2022
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohortLinda A J Hendricks, Nicoline Hoogerbrugge, Hanka Venselaar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2021
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendationEric Legius, Ludwine Messiaen, Pierre Wolkenstein, et al.
American Journal of Medical Genetics. Part A|March 26, 2019
First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeuticsKatherine A Rauen, Abeer Alsaegh, Shay Ben-Shachar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 8, 2022
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendationScott R Plotkin, Ludwine Messiaen, Eric Legius, et al.
Pageof 17