Results 151 to 160 of about 2,361 (178)
Some of the next articles are maybe not open access.
Activation of the MAPK pathway (RASopathies) and partial growth hormone insensitivity
Molecular and Cellular Endocrinology, 2021Alexsandra C Malaquias
exaly
New prospectives on treatment opportunities in RASopathies
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 2022Bruce Gelb, Gregor Andelfinger
exaly
Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies
American Journal of Medical Genetics, Part A, 2021Elizabeth Bhoj +2 more
exaly
Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results
International Journal of Cardiology, 2017Giuseppe Pacileo, Marco Tartaglia
exaly
[RASopathies and hematologic abnormalities].
[Rinsho ketsueki] The Japanese journal of clinical hematology, 2016Whole exome sequencing with a next generation sequencer is increasingly being used for identifying new genes and for diagnosing genetic disorders. Numerous causative genes have been identified in Mendelian disorders as well as cancers and multifactorial disorders. Among inborn errors of development, recent advances have been noted in the identification
openaire +1 more source
Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study
Birth Defects Research, 2020Giuseppe Pacileo, Marco Tartaglia
exaly