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Journal Article
Best Practice & Research: Clinical Endocrinology & Metabolism, ISSN 1521-690X, 2010, Volume 25, Issue 1, pp. 161 - 179
Noonan syndrome is a relatively common, clinically variable developmental disorder. Cardinal features include postnatally reduced growth, distinctive facial... 
Endocrinology & Metabolism | pathogenetic mechanisms | Noonan syndrome | genotype-phenotype correlations | diagnosis | Noonan-like syndrome with loose anagen hair | LEOPARD syndrome | RAS signaling | patient management | CBL mutation-associated syndrome | LEOPARD-SYNDROME | SOMATIC PTPN11 MUTATIONS | GROWTH-HORMONE TREATMENT | OF-FUNCTION MUTATIONS | RAS SUPERFAMILY | PHENOTYPIC SPECTRUM | SHP2 MUTATIONS | ENDOCRINOLOGY & METABOLISM | JUVENILE MYELOMONOCYTIC LEUKEMIA | GERMLINE MUTATIONS | MYELODYSPLASTIC SYNDROMES | Loose Anagen Hair Syndrome - genetics | Costello Syndrome - diagnosis | Humans | LEOPARD Syndrome - genetics | Infant | Heart Defects, Congenital - genetics | Facies | SOS1 Protein - genetics | Failure to Thrive - diagnosis | Neurofibromatosis 1 - genetics | Child | Intracellular Signaling Peptides and Proteins - genetics | Noonan Syndrome - diagnosis | Proto-Oncogene Proteins c-cbl - genetics | Failure to Thrive - genetics | Proto-Oncogene Proteins c-raf - genetics | Ectodermal Dysplasia - diagnosis | Noonan Syndrome - genetics | Loose Anagen Hair Syndrome - diagnosis | Costello Syndrome - genetics | Proto-Oncogene Proteins B-raf - genetics | Adolescent | LEOPARD Syndrome - diagnosis | Heart Defects, Congenital - diagnosis | Mitogen-Activated Protein Kinases - genetics | Ectodermal Dysplasia - genetics | Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics | Proteins | Developmental biology | Protein kinases
Journal Article
Journal of the International AIDS Society, ISSN 1758-2652, 10/2016, Volume 19, Issue 8(Suppl 7), pp. 21487 - n/a
Journal Article
Nature Genetics, ISSN 1061-4036, 09/2009, Volume 41, Issue 9, pp. 1022 - 1026
Journal Article
Nature Communications, ISSN 2041-1723, 04/2016, Volume 7, Issue 1, p. 11133
Many natural and industrial processes rely on constrained transport, such as proteins moving through cells, particles confined in nanocomposite materials or... 
HARD-SPHERES | MULTIDISCIPLINARY SCIENCES | SIZE | LOCALIZATION TRANSITION | DIFFUSION | MODEL POROUS-MEDIA | GLASS-LIKE DYNAMICS | CELL | Physics - Soft Condensed Matter
Journal Article
Nature, ISSN 0028-0836, 06/2010, Volume 465, Issue 7299, pp. 808 - 812
Journal Article
ORPHANET JOURNAL OF RARE DISEASES, ISSN 1750-1172, 07/2019, Volume 14, Issue 1, pp. 163 - 4
The concomitant occurrence of hypertrophic cardiomyopathy and congenital heart defect in patients with RASopathies has previously been reported as associated... 
PI3K-AKT-mTOR | LEOPARD-SYNDROME | MEDICINE, RESEARCH & EXPERIMENTAL | GENE | RASopathy | CLINICAL-DIAGNOSIS | GENETICS & HEREDITY | Hypertrophic cardiomyopathy | 1ST YEAR | INFANT | MAPK | NOONAN-SYNDROME | Pediatrics | Congenital heart disease | Genetic disorders | Cardiomyopathy, Hypertrophic | Children | Health aspects
Journal Article
EBioMedicine, ISSN 2352-3964, 06/2017, Volume 20, Issue C, pp. 39 - 49
Journal Article