High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation
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Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.NF1 germline mutation differentially dictates optic glioma formation and growth in neurofibromatosis-1.Von recklinghausen disease: one patient - various problems.Challenges in Drug Discovery for Neurofibromatosis Type 1-Associated Low-Grade GliomaEmerging genotype-phenotype relationships in patients with large NF1 deletions.Disease Burden and Symptom Structure of Autism in Neurofibromatosis Type 1: A Study of the International NF1-ASD Consortium Team (INFACT).Contextual signaling in cancer.Exploring the genetic basis for clinical variation in neurofibromatosis type 1.Children with 5'-end NF1 gene mutations are more likely to have glioma.Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I.Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth.Multiple spinal nerve enlargement and SOS1 mutation: Further evidence of overlap between neurofibromatosis type 1 and Noonan phenotype.Choroidal abnormalities in café-au-lait syndromes: a new differential diagnostic tool?ClinGen's RASopathy Expert Panel consensus methods for variant interpretation
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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 14 July 2015
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
High Incidence of Noonan Syndr ...... Genotype-Phenotype Correlation
@en
High Incidence of Noonan Syndr ...... enotype-Phenotype Correlation.
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type
label
High Incidence of Noonan Syndr ...... Genotype-Phenotype Correlation
@en
High Incidence of Noonan Syndr ...... enotype-Phenotype Correlation.
@nl
prefLabel
High Incidence of Noonan Syndr ...... Genotype-Phenotype Correlation
@en
High Incidence of Noonan Syndr ...... enotype-Phenotype Correlation.
@nl
P2093
P2860
P50
P356
P1433
P1476
High Incidence of Noonan Syndr ...... Genotype-Phenotype Correlation
@en
P2093
Alicia Gomes
Amanda Tkachuk
Angela Scheuerle
Angela Sharp
Anna Duat-Rodriguez
Anne Destree
Begona Ezquieta
Beth A Keena
Bruce Blumberg
Bruce Korf
P2860
P304
P356
10.1002/HUMU.22832
P577
2015-07-14T00:00:00Z