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UnknownGermline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
Not available
S-EPMC4028130 | biostudies-literature
UnknownSOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
Not available
S-EPMC3118925 | biostudies-literature
UnknownHeterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.
Not available
S-EPMC2917705 | biostudies-literature
UnknownMutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.
Not available
S-EPMC2765465 | biostudies-literature
UnknownExome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
Not available
S-EPMC9669235 | biostudies-literature
UnknownThe detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Borjeson-Forssman-Lehmann and White-Kernohan syndromes.
Not available
S-EPMC11186873 | biostudies-literature
UnknownTocilizumab for patients with COVID-19 pneumonia. The single-arm TOCIVID-19 prospective trial.
Not available
S-EPMC7576974 | biostudies-literature
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