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American journal of human genetics, ISSN 0002-9297, 02/2016, Volume 98, Issue 2, pp. 347 - 357
Journal Article
Nature medicine, ISSN 1078-8956, 2011, Volume 17, Issue 6, pp. 720 - 725
Journal Article
Journal of inherited metabolic disease, ISSN 0141-8955, 2016, Volume 39, Issue 5, pp. 713 - 723
Journal Article
Nature communications, ISSN 2041-1723, 01/2021, Volume 12, Issue 1, pp. 654 - 654
Journal Article
Nature medicine, ISSN 1078-8956, 11/2015, Volume 21, Issue 11, pp. 1262 - 1271
Journal Article
Muscle & nerve, ISSN 0148-639X, 09/2012, Volume 46, Issue 3, pp. 394 - 399
muscle force | neurofibromatosis | cardiofaciocutaneous syndrome | Noonan syndrome | RASopathy | Costello syndrome | Cardiofaciocutaneous syndrome | Muscle force | Neurofibromatosis | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Vertebrates: nervous system and sense organs | Biological and medical sciences | Vertebrates: osteoarticular system, musculoskeletal system | Striated muscle. Tendons | Motor control and motor pathways. Reflexes. Control centers of vegetative functions. Vestibular system and equilibration | ras Proteins - genetics | Humans | Middle Aged | Noonan Syndrome - physiopathology | Child, Preschool | ras Proteins - metabolism | Male | Muscle, Skeletal - metabolism | Neurofibromatosis 1 - physiopathology | Muscle Weakness - genetics | Ectodermal Dysplasia - physiopathology | Heart Defects, Congenital - genetics | Ectodermal Dysplasia - metabolism | MAP Kinase Signaling System - genetics | Facies | Adult | Female | Neurofibromatosis 1 - metabolism | Neurofibromatosis 1 - genetics | Child | Failure to Thrive - physiopathology | Costello Syndrome - physiopathology | Failure to Thrive - genetics | Noonan Syndrome - genetics | Costello Syndrome - genetics | Costello Syndrome - metabolism | Muscle, Skeletal - physiopathology | Noonan Syndrome - metabolism | Adolescent | Failure to Thrive - metabolism | Muscle Weakness - metabolism | Ectodermal Dysplasia - genetics | Heart Defects, Congenital - metabolism | Heart Defects, Congenital - physiopathology | Muscle Weakness - physiopathology | Hand Strength - physiology | Analysis | Genetic disorders | Medical genetics | Index Medicus
Journal Article
The lancet respiratory medicine, ISSN 2213-2600, 10/2013, Volume 1, Issue 8, pp. 621 - 629
Journal Article