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Journal Article
Annual Review of Medicine, ISSN 0066-4219, 02/2011, Volume 62, Issue 1, pp. 411 - 429
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2018, Volume 176, Issue 2, pp. 386 - 390
Smith–Lemli–Opitz syndrome (SLOS) is a metabolic disorder caused by an inborn error of cholesterol synthesis that affects the development of many organ... 
neurofibromatosis type 1 | spongiotic changes | Smith–Lemli–Opitz syndrome | regressing brain lesions | GTPases | SONIC HEDGEHOG | MRI | GENETICS & HEREDITY | TUMOR | NF1 | Smith-Lemli-Opitz syndrome | AMPHETAMINE | NEUROFIBROMATOSIS TYPE-1 | Neurons - pathology | Basal Ganglia - diagnostic imaging | Seizures - genetics | Smith-Lemli-Opitz Syndrome - genetics | Brain Neoplasms - diagnostic imaging | Humans | Brain Neoplasms - physiopathology | Smith-Lemli-Opitz Syndrome - physiopathology | Child, Preschool | Male | Neurofibromatosis 1 - physiopathology | Seizures - diagnostic imaging | Cholesterol - genetics | Central Nervous System - diagnostic imaging | Young Adult | Seizures - physiopathology | Neurofibromatosis 1 - genetics | Child | Basal Ganglia - physiopathology | Brain - physiopathology | Neurofibromatosis 1 - diagnostic imaging | Monomeric GTP-Binding Proteins - genetics | Magnetic Resonance Imaging | Adolescent | Brain Stem - physiopathology | Central Nervous System - physiopathology | Cholesterol - biosynthesis | Smith-Lemli-Opitz Syndrome - diagnostic imaging | Brain damage | Brain tumors | G proteins | Basal ganglia | Brain stem | Congenital defects | Central nervous system | Nervous system | Recklinghausen's disease | Cholesterol | Ganglia | Magnetic resonance imaging | Neurofibromatosis | Opitz syndrome | Metabolic disorders
Journal Article
Muscle & Nerve, ISSN 0148-639X, 09/2012, Volume 46, Issue 3, pp. 394 - 399
Introduction: RASopathies are a group of genetic conditions due to alterations of the Ras/MAPK pathway. Neurocutaneous findings are hallmark features of the... 
muscle force | neurofibromatosis | cardiofaciocutaneous syndrome | Noonan syndrome | RASopathy | Costello syndrome | Cardiofaciocutaneous syndrome | Muscle force | Neurofibromatosis | GRIP-STRENGTH | COSTELLO | MYOPATHY | NEUROSCIENCES | CLINICAL NEUROLOGY | CHILDREN | 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
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2017, Volume 173, Issue 9, pp. 2353 - 2358
Journal Article
Cancer discovery, ISSN 2159-8274, 01/2019, Volume 9, Issue 1, pp. 114 - 129
Journal Article
Journal Article