المؤلفون: Beatrice Spedicati, Anna Morgan, Giulia Pianigiani, Luciana Musante, Elisa Rubinato, Aurora Santin, Giuseppe Giovanni Nardone, Flavio Faletra, Giorgia Girotto

المصدر: Genes, Vol 13, Iss 11, p 2023 (2022)

مصطلحات موضوعية: dual molecular diagnosis, multilocus genomic variation, whole exome sequencing, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/13/11/2023Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/bb855db63c164a25862519c3958679a0Test

المؤلفون: Spedicati, Beatrice, Morgan, Anna, Pianigiani, Giulia, Musante, Luciana, Rubinato, Elisa, Santin, Aurora, Nardone, Giuseppe Giovanni, Faletra, Flavio, Girotto, Giorgia

المساهمون: Spedicati, Beatrice, Morgan, Anna, Pianigiani, Giulia, Musante, Luciana, Rubinato, Elisa, Santin, Aurora, Nardone, Giuseppe Giovanni, Faletra, Flavio, Girotto, Giorgia

مصطلحات موضوعية: Dual molecular diagnosi, Multilocus genomic variation, Whole Exome Sequencing

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36360260; info:eu-repo/semantics/altIdentifier/wos/WOS:000882671900001; volume:13; issue:11; firstpage:"-"; lastpage:"-"; numberofpages:15; journal:GENES; https://hdl.handle.net/11368/3034240Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85141586317; https://www.mdpi.com/2073-4425/13/11/2023Test

الإتاحة: https://doi.org/10.3390/genes13112023Test
https://hdl.handle.net/11368/3034240Test
https://www.mdpi.com/2073-4425/13/11/2023Test

المؤلفون: Sha Tang, Jesse M. Hunter, Samin A. Sajan, Kelly D. Farwell Hagman, Kelly Radtke, Cathy A. Stevens, Erica D. Smith, Deepali N. Shinde, Wendy Alcaraz, Candace Muss, Kirsten Blanco, Jennifer Huang, Bess Wayburn, Mari Rossi

المصدر: Genetics in Medicine

مصطلحات موضوعية: Male, Genotype, Bioinformatics, Article, Diagnosis, Differential, symbols.namesake, multilocus genomic variation, distinct vs. overlapping phenotypes, Exome Sequencing, medicine, Humans, In patient, Exome, Genetic Testing, Medical diagnosis, Genetics (clinical), Organ system, Exome sequencing, Diagnostic Techniques and Procedures, Retrospective Studies, Retrospective review, business.industry, multiple genetic diseases, High-Throughput Nucleotide Sequencing, Genomics, Sequence Analysis, DNA, medicine.disease, Comorbidity, diagnostic exome sequencing, comorbidity, Phenotype, Mutation, Mendelian inheritance, symbols, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::962119567c89ebd92f8a20f49cad46f2Test
http://europepmc.org/articles/PMC6774997Test

المؤلفون: Saettini F., L'Imperio V., Fazio G., Cazzaniga G., Mazza C., Moroni I., Badolato R., Biondi A., Corti P.

المساهمون: Saettini, F, L'Imperio, V, Fazio, G, Cazzaniga, G, Mazza, C, Moroni, I, Badolato, R, Biondi, A, Corti, P

مصطلحات موضوعية: autoimmune lymphoproliferative syndrome, Becker muscular dystrophy, dual molecular diagnose, multilocus genomic variation, primary immunodeficiency

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33460031; info:eu-repo/semantics/altIdentifier/wos/WOS:000549781800001; volume:191; issue:2; firstpage:291; lastpage:294; journal:BRITISH JOURNAL OF HAEMATOLOGY; http://hdl.handle.net/10281/287261Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85088140907

الإتاحة: https://doi.org/10.1111/bjh.16967Test
http://hdl.handle.net/10281/287261Test

المؤلفون: Grazia Fazio, Raffaele Badolato, Vincenzo L'Imperio, Isabella Moroni, Francesco Saettini, Paola Corti, Andrea Biondi, Cinzia Mazza, Gianni Cazzaniga

المساهمون: Saettini, F, L'Imperio, V, Fazio, G, Cazzaniga, G, Mazza, C, Moroni, I, Badolato, R, Biondi, A, Corti, P

مصطلحات موضوعية: Pathology, medicine.medical_specialty, dual molecular diagnoses, multilocus genomic variations, business.industry, Hematology, autoimmune lymphoproliferative syndrome, Becker muscular dystrophy, primary immunodeficiency, medicine.disease, multilocus genomic variation, Autoimmune lymphoproliferative syndrome, Primary immunodeficiency, Atypical phenotype, Medicine, Muscular dystrophy, business, dual molecular diagnose

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::332246f425c4ec5e99629e0aa4016439Test
http://hdl.handle.net/11379/538894Test

مصطلحات الفهرس: autoimmune lymphoproliferative syndrome, Becker muscular dystrophy, dual molecular diagnose, multilocus genomic variation, primary immunodeficiency, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10281/287261Test
info:eu-repo/semantics/altIdentifier/pmid/33460031
info:eu-repo/semantics/altIdentifier/wos/WOS:000549781800001
volume:191
issue:2
firstpage:291
lastpage:294
journal:BRITISH JOURNAL OF HAEMATOLOGY