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Nature Genetics|October 1, 2013
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autismChristian P Schaaf, Manuel L Gonzalez-Garay, Fan Xia, et al.
Frontiers in Immunology|June 9, 2020
Impaired Thymic Output Can Be Related to the Low Immune Reconstitution and T Cell Repertoire Disturbances in Relapsing Visceral Leishmaniasis Associated HIV/AIDS PatientsMaria Luciana Silva-Freitas, Gabriela Corrêa-Castro, Glaucia Fernandes Cota, et al.
Human Mutation|October 13, 2018
Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation frameworkAndrew R Grant, Brandon J Cushman, Hélène Cavé, et al.
Radiotherapy and Oncology : Journal of the European Society for Therapeutic Radiology and Oncology|June 15, 2016
Influence of dosimetric and clinical criteria on the requirement of artificial nutrition during radiotherapy of head and neck cancer patientsChristiane Matuschek, Edwin Bölke, Caroline Geigis, et al.
American Journal of Medical Genetics|September 5, 2002
Further delineation of cardiac abnormalities in Costello syndromeAngela E Lin, Paul D Grossfeld, Robert M Hamilton, et al.
American Journal of Medical Genetics. Part A|April 28, 2015
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequencesKaren W Gripp, Katia Sol-Church, Patroula Smpokou, et al.
Frontiers in Psychology|August 26, 2024
Filling the gap: brief neuropsychological assessment protocol for glioma patients undergoing awake surgeriesJuliana Bastos Ohy, Cleiton Formentin, Daniel Andrade Gripp, et al.
American Journal of Medical Genetics. Part A|February 6, 2008
Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?Karen W Gripp, A Micheil Innes, Marni E Axelrad, et al.
BMC Infectious Diseases|January 22, 2020
Clinical and genetic markers associated with tuberculosis, HIV-1 infection, and TB/HIV-immune reconstitution inflammatory syndrome outcomesNathalia Beatriz Ramos de Sá, Marcelo Ribeiro-Alves, Tatiana Pereira da Silva, et al.
Clinical Genetics|May 12, 2015
Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotypeM Koenighofer, C Y Hung, J L McCauley, et al.
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