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humans (17) 17
genetics & heredity (13) 13
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female (11) 11
index medicus (11) 11
mutation (9) 9
noonan syndrome - genetics (9) 9
noonan syndrome (7) 7
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adolescent (4) 4
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intracellular signaling peptides and proteins - genetics (4) 4
protein tyrosine phosphatase, non-receptor type 11 (4) 4
protein tyrosine phosphatases - genetics (4) 4
research (4) 4
signal transduction (4) 4
biochemistry & molecular biology (3) 3
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costello-syndrome (3) 3
dna mutational analysis (3) 3
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infant, newborn (3) 3
intracellular signaling peptides and proteins (3) 3
juvenile myelomonocytic leukemia (3) 3
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noonan syndrome - diagnosis (3) 3
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protein conformation (3) 3
proteins (3) 3
ras (3) 3
ras proteins - metabolism (3) 3
syndrome (3) 3
abnormalities, multiple - pathology (2) 2
acute myeloid-leukemia (2) 2
amino acid sequence (2) 2
analysis (2) 2
braf (2) 2
cardio-facio-cutaneous syndrome (2) 2
cardiofaciocutaneous syndrome (2) 2
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cell nucleus - metabolism (2) 2
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genotype & phenotype (2) 2
genotype-phenotype correlations (2) 2
genotype–phenotype correlations (2) 2
hek293 cells (2) 2
hematology (2) 2
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infants (2) 2
intellectual disability - genetics (2) 2
intracellular signaling peptides and proteins - chemistry (2) 2
introns (2) 2
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leopard syndrome - genetics (2) 2
life sciences (2) 2
loose anagen hair syndrome - genetics (2) 2
medical genetics (2) 2
models, molecular (2) 2
mutation analysis (2) 2
mutations cause noonan (2) 2
myelodysplastic syndromes (2) 2
noonan syndrome - pathology (2) 2
noonan-like syndrome with loose anagen hair (2) 2
noonan-syndrome (2) 2
noonan‐like syndrome with loose anagen hair (2) 2
protein-tyrosine-phosphatase (2) 2
ptpn11 (2) 2
ptpn11 mutations (2) 2
ras proteins - genetics (2) 2
ras signaling (2) 2
rasopathies (2) 2
sex ratio (2) 2
shoc2 (2) 2
transcription factors - genetics (2) 2
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[ sdv ] life sciences [q-bio] (1) 1
abnormal ultrasound findings (1) 1
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Nature Genetics, ISSN 1061-4036, 09/2009, Volume 41, Issue 9, pp. 1022 - 1026
Journal Article
Human Mutation, ISSN 1059-7794, 07/2011, Volume 32, Issue 7, pp. 760 - 772
Journal Article
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 8, pp. 815 - 817
Journal Article
Human Mutation, ISSN 1059-7794, 11/2015, Volume 36, Issue 11, pp. 1080 - 1087
Journal Article
Progress in Neuropsychopharmacology & Biological Psychiatry, ISSN 0278-5846, 06/2019, Volume 92, pp. 421 - 427
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 04/2009, Volume 17, Issue 4, pp. 420 - 425
Journal Article
Journal Article