المؤلفون: B. W. M, J. Balciuniene, G. Fruhman, S. C. Sreenath, D. L. Broome, E. Cameron, D. Martinet, E. Roulet, S. Jacquemont, J. S. Beckmann, M. Irons, L. Potocki, B. Lee, S. W. Cheung, A. Patel, M. Bellini, A. Selicorni, M. Silengo, N. V. Knoers, N. d. Leeuw, R. Pfundt, B. Wolf, P. Jira, S. Aradhya, P. Stankiewicz, H. G. Brunner, S. B. Selleck, J. R. Lupski, B. B. A., CICCONE, ROBERTO, VETRO, ANNALISA, ZUFFARDI, ORSETTA

المساهمون: B. W., M, J., Balciuniene, G., Fruhman, S. C., Sreenath, D. L., Broome, E., Cameron, D., Martinet, E., Roulet, S., Jacquemont, J. S., Beckmann, M., Iron, L., Potocki, B., Lee, S. W., Cheung, A., Patel, M., Bellini, A., Selicorni, Ciccone, Roberto, M., Silengo, Vetro, Annalisa, N. V., Knoer, N. d., Leeuw, R., Pfundt, B., Wolf, P., Jira, S., Aradhya, P., Stankiewicz, H. G., Brunner, Zuffardi, Orsetta, S. B., Selleck, J. R., Lupski, B. B., A.

مصطلحات موضوعية: Abnormalitie, Multiple, genetics/pathology, Adaptor Protein, Signal Transducing, genetics, Animals, Body Dysmorphic Disorder, Bone Morphogenetic Protein Receptor, Type I, Child, Chromosome Deletion, Chromosome, Human, Pair 10, DNA Copy Number Variations, Developmental Disabilitie, Female, Humans, Language Development Disorder, Macrocephaly, Male, Mice, Natural Cytotoxicity Triggering Receptor 3, Phenotype, Segmental Duplication, Genomic

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21248748; info:eu-repo/semantics/altIdentifier/wos/WOS:000288505000009; volume:19; issue:4; firstpage:400; lastpage:408; numberofpages:8; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11571/454501Test; info:eu-repo/semantics/altIdentifier/scopus/eid=2-s2.0-79952769778; http://dx.doi.org/10.1038/ejhg.2010.211Test

الإتاحة: https://doi.org/10.1038/ejhg.2010.211Test
http://hdl.handle.net/11571/454501Test

المؤلفون: M. Longoni, S. Moncini, I. M. Morella, S. Ferraiuolo, S. Russo, S. Mannarino, BORRONI, GIOVANNI, P. Coi, R. Zippel, M. Venturin, P. Riva, CISTERNINO, MARIANGELA

المساهمون: M., Longoni, S., Moncini, Cisternino, Mariangela, I. M., Morella, S., Ferraiuolo, S., Russo, S., Mannarino, Borroni, Giovanni, P., Coi, R., Zippel, M., Venturin, P., Riva

مصطلحات موضوعية: DNA Mutational Analysis, Family, GRB2 Adaptor Protein, genetics, Genotype, Humans, JNK Mitogen-Activated Protein Kinase, metabolism, Mutation, Missense, Noonan Syndrome, Proto-Oncogene Proteins c-raf, SOS1 Protein, rac1 GTP-Binding Protein, ras Proteins

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/20683980; info:eu-repo/semantics/altIdentifier/wos/WOS:000281498800006; volume:152A; firstpage:2176; lastpage:2184; numberofpages:8; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11571/389317Test; http://dx.doi.org/10.1002/ajmg.a.33564Test

الإتاحة: https://doi.org/10.1002/ajmg.a.33564Test
http://hdl.handle.net/11571/389317Test

المؤلفون: DUPRE L, ANDOLFI G, TANGYE SG, CLEMENTI R, ARICO M, AIUTI A, RONCAROLO MG, LOCATELLI, FRANCO

المساهمون: Dupre, L, Andolfi, G, Tangye, Sg, Clementi, R, Locatelli, Franco, Arico, M, Aiuti, A, Roncarolo, Mg

مصطلحات موضوعية: ADAPTOR PROTEIN SAP, X-LINKED LYMPHOPROLIFERATIVE (XLP) DISEASE

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/PMID: 15677558; volume:105; issue:11; firstpage:4383; lastpage:4389; journal:BLOOD; http://hdl.handle.net/11571/108989Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-19344372415

الإتاحة: https://doi.org/10.1182/blood-2004-08-3269Test
http://hdl.handle.net/11571/108989Test

المؤلفون: M. Zorzetto, I. Ferrarotti, I. Campo, R. Trisolini, V. Poletti, R. Scabini, M. Ceruti, P. Mazzola, E. Crippa, S. Ottaviani, C. Agostini, G. Semenzato, POZZI, ERNESTO, LUISETTI, MAURIZIO

المساهمون: Zorzetto, M., Ferrarotti, I., Campo, I., Trisolini, R., Poletti, V., Scabini, R., Ceruti, M., Mazzola, P., Crippa, E., Ottaviani, S., Agostini, C., Semenzato, G., Pozzi, Ernesto, Luisetti, Maurizio

مصطلحات موضوعية: Aged, Amino Acid Substitution, DNA Primers, European Continental Ancestry Group, Female, Genotype, Heterozygote Detection, Homozygote, Humans, Intracellular Signaling Peptides and Protein, genetics, Italy, Male, Middle Aged, Nod2 Signaling Adaptor Protein, Polymorphism, Single Nucleotide, Pulmonary Fibrosi, Reference Values, Sarcoidosi

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/16315780; volume:22; firstpage:180; lastpage:185; numberofpages:5; journal:SARCOIDOSIS VASCULITIS AND DIFFUSE LUNG DISEASES; http://hdl.handle.net/11571/522841Test

الإتاحة: http://hdl.handle.net/11571/522841Test