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cardiofaciocutaneous syndrome (111) 111
index medicus (92) 92
humans (87) 87
genetics & heredity (62) 62
noonan syndrome (61) 61
female (55) 55
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facio-cutaneous syndrome (39) 39
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braf (25) 25
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proto-oncogene proteins b-raf - genetics (23) 23
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ras (15) 15
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leopard syndrome (14) 14
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ectodermal dysplasia - diagnosis (10) 10
heart defects, congenital - complications (10) 10
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protein tyrosine phosphatases - genetics (10) 10
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proto-oncogene proteins p21 (8) 8
abnormalities, multiple - pathology (7) 7
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costello syndrome - genetics (7) 7
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Journal of Medical Genetics, ISSN 0022-2593, 12/2007, Volume 44, Issue 12, pp. 763 - 771
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2014, Volume 164, Issue 4, pp. 934 - 942
Here, we describe neurobehavioral features in patients with RASopathies (i.e., Noonan syndrome, LEOPARD syndrome, Costello syndrome, and cardiofaciocutaneous... 
syndrome | RAS | Noonan syndrome | cascade | Costello syndrome | Noonan‐like syndrome with loose anagen hair | behavior | cardiofaciocutaneous syndrome | MAPK | genotype–phenotype correlation analyses | LEOPARD | Cardiofaciocutaneous syndrome | Genotype-phenotype correlation analyses | RAS/MAPK cascade | Behavior | Noonan-like syndrome with loose anagen hair | LEOPARD syndrome | CASCADE | AUTISM SPECTRUM DISORDERS | SYNAPTIC PLASTICITY | NOONAN-SYNDROME | CHILDREN | FEATURES | INTELLECTUAL DISABILITY | genotype-phenotype correlation analyses | MAPK cascade | SOCIAL COMMUNICATION QUESTIONNAIRE | COSTELLO-SYNDROME | GENETICS & HEREDITY | ras Proteins - genetics | Noonan Syndrome - enzymology | Humans | LEOPARD Syndrome - genetics | Child, Preschool | Male | Developmental Disabilities - genetics | Failure to Thrive - enzymology | Young Adult | Heart Defects, Congenital - genetics | Mental Disorders - genetics | MAP Kinase Signaling System - genetics | Mental Disorders - enzymology | Autistic Disorder - enzymology | Developmental Disabilities - enzymology | Heart Defects, Congenital - enzymology | Facies | Adult | Female | Child | Autistic Disorder - genetics | Failure to Thrive - genetics | Ectodermal Dysplasia - enzymology | Costello Syndrome - enzymology | Mutation - genetics | Noonan Syndrome - genetics | Costello Syndrome - genetics | Adolescent | Ectodermal Dysplasia - genetics | LEOPARD Syndrome - enzymology | Index Medicus
Journal Article
Human Mutation, ISSN 1059-7794, 04/2009, Volume 30, Issue 4, pp. 695 - 702
Journal Article
Journal Article
Clinical Genetics, ISSN 0009-9163, 12/2011, Volume 80, Issue 6, pp. 566 - 573
Stevenson DA, Schwarz EL, Carey JC, Viskochil DH, Hanson H, Bauer S, Cindy Weng H‐Y, Greene T, Reinker K, Swensen J, Chan RJ, Yang F‐C, Senbanjo L, Yang Z, Mao... 
bone | cardiofaciocutaneous syndrome | Noonan syndrome | pyridinium | Costello syndrome | Cardiofaciocutaneous syndrome | Bone | Pyridinium | FACIO-CUTANEOUS SYNDROME | NEUROFIBROMATOSIS TYPE-I | ORTHOPEDIC MANIFESTATIONS | URINARY-EXCRETION | TIBIAL PSEUDOARTHROSIS | MINERAL-DENSITY | MUTATIONS CAUSE NOONAN | COSTELLO-SYNDROME | GENETICS & HEREDITY | DESCRIPTIVE ANALYSIS | PYRIDINIUM CROSS-LINKS | Bone Resorption - urine | Biomarkers - urine | Genetic Testing | Proto-Oncogene Proteins p21(ras) - genetics | Humans | Child, Preschool | Male | Chromatography, High Pressure Liquid | Case-Control Studies | MAP Kinase Signaling System | Noonan Syndrome - pathology | Young Adult | Heart Defects, Congenital - genetics | Bone Resorption - genetics | DNA Mutational Analysis | Failure to Thrive - pathology | Heart Defects, Congenital - urine | Collagen - urine | Facies | Adult | Costello Syndrome - urine | Ectodermal Dysplasia - pathology | Female | Failure to Thrive - urine | Child | Amino Acids - urine | Bone Density | Costello Syndrome - pathology | Failure to Thrive - genetics | Signal Transduction | Heart Defects, Congenital - pathology | Noonan Syndrome - urine | Noonan Syndrome - genetics | Absorptiometry, Photon | Hydrolysis | Costello Syndrome - genetics | Adolescent | Bone Resorption - pathology | Ectodermal Dysplasia - genetics | Ectodermal Dysplasia - urine | Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics | Cohort Studies | Bone resorption | Medical colleges | Analysis | Collagen | Children's hospitals | Liquid chromatography | Protein kinases | Proteins | Bones | Genetic disorders | Index Medicus
Journal Article
Molecular Syndromology, ISSN 1661-8769, 02/2010, Volume 1, Issue 1, pp. 2 - 26
Noonan syndrome (NS) is a relatively common, clinically variable and genetically heterogeneous developmental disorder characterized by postnatally reduced... 
Review Article | Cardiofaciocutaneous syndrome | Genotype-phenotype correlations | Neurocardiofacialcutaneous syndrome family | Noonan syndrome | Costello syndrome | Molecular epidemiology | Molecular basis of disease | Mutation analysis | LEOPARD syndrome | RAS signaling | Review
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 2007, Volume 143A, Issue 8, pp. 799 - 807
Journal Article
Medical Journal Armed Forces India, ISSN 0377-1237, 04/2013, Volume 69, Issue 2, pp. 175 - 177
Journal Article