المؤلفون: Motta M., Pannone L., Pantaleoni F., Bocchinfuso G., Radio F. C., Cecchetti S., Ciolfi A., Di Rocco M., Elting M. W., Brilstra E. H., Boni S., Mazzanti L., Tamburrino F., Walsh L., Payne K., Fernandez-Jaen A., Ganapathi M., Chung W. K., Grange D. K., Dave-Wala A., Reshmi S. C., Bartholomew D. W., Mouhlas D., Carpentieri G., Bruselles A., Pizzi S., Bellacchio E., Piceci-Sparascio F., Lissewski C., Brinkmann J., Waclaw R. R., Waisfisz Q., van Gassen K., Wentzensen I. M., Morrow M. M., Alvarez S., Martinez-Garcia M., De Luca A., Memo L., Zampino G., Rossi C., Seri M., Gelb B. D., Zenker M., Dallapiccola B., Stella L., Prada C. E., Martinelli S., Flex E., Tartaglia M.

المساهمون: Motta, M., Pannone, L., Pantaleoni, F., Bocchinfuso, G., Radio, F. C., Cecchetti, S., Ciolfi, A., Di Rocco, M., Elting, M. W., Brilstra, E. H., Boni, S., Mazzanti, L., Tamburrino, F., Walsh, L., Payne, K., Fernandez-Jaen, A., Ganapathi, M., Chung, W. K., Grange, D. K., Dave-Wala, A., Reshmi, S. C., Bartholomew, D. W., Mouhlas, D., Carpentieri, G., Bruselles, A., Pizzi, S., Bellacchio, E., Piceci-Sparascio, F., Lissewski, C., Brinkmann, J., Waclaw, R. R., Waisfisz, Q., van Gassen, K., Wentzensen, I. M., Morrow, M. M., Alvarez, S., Martinez-Garcia, M., De Luca, A., Memo, L., Zampino, G., Rossi, C., Seri, M., Gelb, B. D., Zenker, M., Dallapiccola, B., Stella, L., Prada, C. E., Martinelli, S., Flex, E., Tartaglia, M.

مصطلحات موضوعية: C. elegan, ERK2, exome sequencing, intracellular signaling, MAPK cascade, MKP3, Noonan syndrome, RAS signaling, RASopathie, RSK, Carcinogenesi, Child, Preschool, Female, Human, MAP Kinase Signaling System, Male, Mitogen-Activated Protein Kinase 1, Mutation, Missense, Neurodevelopmental Disorder, Phenotype, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Signal Transduction, Whole Exome Sequencing, ras Proteins

Relation: info:eu-repo/semantics/altIdentifier/pmid/32721402; info:eu-repo/semantics/altIdentifier/wos/WOS:000565899700010; volume:107; issue:3; firstpage:499; lastpage:513; numberofpages:15; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11573/1554965; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089385871

الاتاحة: http://hdl.handle.net/11573/1554965
https://doi.org/10.1016/j.ajhg.2020.06.018

المؤلفون: Motta, M., Pannone, L., Pantaleoni, F., Bocchinfuso, G., Radio, F. C., Cecchetti, S., Ciolfi, A., Di Rocco, M., Elting, M. W., Brilstra, E. H., Boni, S., Mazzanti, L., Tamburrino, F., Walsh, L., Payne, K., Fernandez-Jaen, A., Ganapathi, M., Chung, W. K., Grange, D. K., Dave-Wala, A., Reshmi, S. C., Bartholomew, D. W., Mouhlas, D., Carpentieri, G., Bruselles, A., Pizzi, S., Bellacchio, E., Piceci-Sparascio, F., Lissewski, C., Brinkmann, J., Waclaw, R. R., Waisfisz, Q., van Gassen, K., Wentzensen, I. M., Morrow, M. M., Alvarez, S., Martinez-Garcia, M., De Luca, A., Memo, L., Zampino, Giuseppe, Rossi, C., Seri, M., Gelb, B. D., Zenker, M., Dallapiccola, B., Stella, L., Prada, C. E., Martinelli, S., Flex, E., Tartaglia, M., Zampino G. (ORCID:0000-0003-3865-3253)

مصطلحات الفهرس: C. elegans, ERK2, exome sequencing, intracellular signaling, MAPK cascade, MKP3, Noonan syndrome, RAS signaling, RASopathies, RSK, Carcinogenesis, Child, Preschool, Female, Humans, MAP Kinase Signaling System, Male, Mitogen-Activated Protein Kinase 1, Mutation, Missense, Neurodevelopmental Disorders, Noonan Syndrome, Phenotype, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Signal Transduction, Whole Exome Sequencing, ras Proteins, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10807/166663
info:eu-repo/semantics/altIdentifier/pmid/32721402
info:eu-repo/semantics/altIdentifier/wos/WOS:000565899700010
volume:107
issue:3
firstpage:499
lastpage:513
numberofpages:15
issueyear:2020
journal:AMERICAN JOURNAL OF HUMAN GENETICS

المؤلفون: Bartholomew, D. W., Jabs, E. W., Levin, L. S., Ribovich, R.

المصدر: Clinical Genetics; Jun1987, Vol. 31 Issue 6, p370-373, 4p