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Nature Genetics, ISSN 1061-4036, 08/2007, Volume 39, Issue 8, pp. 1013 - 1017
Journal Article
PEDIATRIC ENDOCRINOLOGY REVIEWS PER, ISSN 1565-4753, 05/2019, Volume 16, Issue Suppl 2, pp. 424 - 427
Early in her career, Jacqueline Noonan, a pediatric cardiologist, recognized that a number of children with valvular pulmonary stenosis had similar facial... 
MUTATIONS CAUSE NOONAN | ENDOCRINOLOGY & METABOLISM | PHENOTYPE | Noonan Syndrome | PTPN11 | PTPN11 MUTATIONS | OF-FUNCTION MUTATIONS | History | CHILDREN | Mutation | Intellectual Disability | Humans
Journal Article
Journal Article
Chest, ISSN 0012-3692, 04/2019, Volume 155, Issue 4, pp. 54A - 54A
Journal Article
Journal Article
European journal of human genetics, ISSN 1018-4813, 2013, Volume 21, Issue 9, pp. 936 - 942
Journal Article
Journal Article
Prenatal Diagnosis, ISSN 0197-3851, 10/2011, Volume 31, Issue 10, pp. 949 - 954
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 11/2018, Volume 115, Issue 45, pp. E10576 - E10585
Journal Article
Genes, Brain and Behavior, ISSN 1601-1848, 04/2009, Volume 8, Issue 3, pp. 275 - 282
Noonan syndrome (NS) is an autosomal-dominant genetic disorder associated with highly variable features, including heart disease, short stature, minor facial... 
Genotype-phenotype correlations | BRAF | Cognition | PTPN11 | SOS1 | Noonan syndrome | cognition | FACIO-CUTANEOUS SYNDROME | DISORDERS | OF-FUNCTION MUTATIONS | NEUROSCIENCES | CHILDREN | MUTATIONS CAUSE NOONAN | SHP-2 | CONGENITAL HEART-DISEASE | genotype-phenotype correlations | BEHAVIORAL SCIENCES | NORMATIVE DATA | MANIFESTATIONS | Noonan Syndrome - psychology | Genetic Testing | Developmental Disabilities - metabolism | Humans | Noonan Syndrome - physiopathology | Child, Preschool | Cognition Disorders - metabolism | Male | Developmental Disabilities - genetics | Educational Status | Motor Skills Disorders - genetics | DNA Mutational Analysis | SOS1 Protein - genetics | Female | Child | Developmental Disabilities - physiopathology | Cognition Disorders - physiopathology | Genetic Predisposition to Disease - genetics | Genotype | Cognition Disorders - genetics | Noonan Syndrome - genetics | Hearing Loss - genetics | Neuropsychological Tests | Motor Skills Disorders - metabolism | Proto-Oncogene Proteins B-raf - genetics | Adolescent | Motor Skills Disorders - physiopathology | Mutation | Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics | Cohort Studies | Genetic disorders | Gene mutations | Children's hospitals | Medical genetics | Genetic aspects | Learning disabilities | Heart diseases | Emergency medical services | Genetic screening | Index Medicus
Journal Article
Molecular and Cellular Biology, ISSN 0270-7306, 10/2010, Volume 30, Issue 19, pp. 4698 - 4711
Journal Article