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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Noonan Syndrome and SPRED1[original query]
Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.
The Journal of pediatrics 2011 Dec 159 (6): 1029-35.
Lee Beom Hee, Kim Jae-Min, Jin Hye Young, Kim Gu-Hwan, Choi Jin-Ho, Yoo Han-Wo
Noonan Syndrome in South Africa: Clinical and Molecular Profiles.
Frontiers in genetics 2019 5 10 333.
Tekendo-Ngongang Cedrik, Agenbag Gloudi, Bope Christian Domilongo, Esterhuizen Alina Izabela, Wonkam Ambroi
RASopathies and hemostatic abnormalities: key role of platelet dysfunction.
Orphanet journal of rare diseases 2021 12 16 (1): 499.
Di Candia Francesca, Marchetti Valeria, Cirillo Ferdinando, Di Minno Alessandro, Rosano Carmen, Pagano Stefano, Siano Maria Anna, Falco Mariateresa, Assunto Antonia, Boccia Giovanni, Magliacane Gerardo, Pinna Valentina, De Luca Alessandro, Tartaglia Marco, Di Minno Giovanni, Strisciuglio Pietro, Melis Danie
Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.
medRxiv : the preprint server for health sciences 2025 1 .
Jung Kim, Gina Ney, Megan N Frone, Jeremy S Haley, Uyenlinh L Mirshahi, Esteban Astiazaran-Symonds, Mariya Shandrina, Gretchen Urban, H Shanker Rao, Rick Stahl, Alicia Golden, Marielle E Yohe, Andrea M Gross, Yi Ding, David J Carey, Bruce D Gelb, Douglas R Stewa
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