المؤلفون: Cocciadiferro, Dario, Mazza, Tommaso, Vecchio, Davide, Biagini, Tommaso, Petrizzelli, Francesco, Agolini, Emanuele, Villani, Andrea, Minervino, Daniele, Martinelli, Diego, Rizzo, Cristiano, Boenzi, Sara, Panfili, Filippo Maria, Buonuomo, Paola Sabrina, Macchiaiolo, Marina, Bartuli, Andrea, Novelli, Antonio

المصدر: Frontiers in Genetics ; volume 14 ; ISSN 1664-8021

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Medicine

الإتاحة: https://doi.org/10.3389/fgene.2023.1307934Test

المؤلفون: Bontempo, Piera, Surace, Cecilia, Menale, Lucia, Alicata, Claudia, D'Elia, Gemma, Tomaiuolo, Anna Cristina, Minervino, Daniele, Lorefice, Elisa, Novelli, Antonio

المصدر: Biomedicines; Jun2024, Vol. 12 Issue 6, p1278, 8p

مصطلحات موضوعية: MISSENSE mutation, NUCLEOTIDE sequencing, MEDICAL genetics, CHRONIC pancreatitis, CYSTIC fibrosis transmembrane conductance regulator, MEDICAL genomics

المؤلفون: Bontempo, Piera, Surace, Cecilia, Menale, Lucia, Alicata, Claudia, D'Elia, Gemma, Tomaiuolo, Anna Cristina, Minervino, Daniele, Lorefice, Elisa, Novelli, Antonio

المصدر: Biomedicines ; ISSN:2227-9059 ; Volume:12 ; Issue:6

مصطلحات موضوعية: CFTR, CaSR, SPINK1, chronic pancreatitis, next generation sequencing, trypsin pathway

العلاقة: https://doi.org/10.3390/biomedicines12061278Test; https://pubmed.ncbi.nlm.nih.gov/38927485Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11201075Test/

الإتاحة: https://doi.org/10.3390/biomedicines12061278Test
https://pubmed.ncbi.nlm.nih.gov/38927485Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11201075Test/

المؤلفون: Tannorella, Pierpaola, Minervino, Daniele, Guzzetti, Sara, Vimercati, Alessandro, Calzari, Luciano, Patti, Giuseppa, Maghnie, Mohamad, Allegri, Anna Elsa Maria, Milani, Donatella, Scuvera, Giulietta, Mariani, Milena, Modena, Piergiorgio, Selicorni, Angelo, Larizza, Lidia, Russo, Silvia

المساهمون: Tannorella, Pierpaola, Minervino, Daniele, Guzzetti, Sara, Vimercati, Alessandro, Calzari, Luciano, Patti, Giuseppa, Maghnie, Mohamad, Allegri, Anna Elsa Maria, Milani, Donatella, Scuvera, Giulietta, Mariani, Milena, Modena, Piergiorgio, Selicorni, Angelo, Larizza, Lidia, Russo, Silvia

مصطلحات موضوعية: GNAS DMR, Mulchandani–Bhoj–Conlin syndrome, Silver Russell, UPD(20)mat, diagnostic flowchart, epigenetic deregulation, growth disorder, rare mechanism, Adult, Child, Chromogranin, Chromosomes, Human, Pair 20, Diagnosis, Differential, Female, GTP-Binding Protein alpha Subunits, Genomic Imprinting, Infant, Male, Maternal Age, Maternal Inheritance, Pathology, Molecular, Pedigree, Phenotype, Silver-Russell Syndrome, Uniparental Disomy

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33920573; info:eu-repo/semantics/altIdentifier/wos/WOS:000643046000001; volume:12; firstpage:1; lastpage:12; numberofpages:12; journal:GENES; https://hdl.handle.net/11567/1057645Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85105121709

الإتاحة: https://doi.org/10.3390/genes12040588Test
https://hdl.handle.net/11567/1057645Test

المؤلفون: Minervino, Daniele, Gumiero, Daniela, Nicolazzi, Maria Anna, Carnicelli, Annamaria, Fuorlo, Mariella, Guidone, Caterina, Di Gennaro, Leonardo, Fattorossi, Andrea, Mingrone, Geltrude, Landolfi, Raffaele

المصدر: Medicine ; volume 94, issue 40, page e1382 ; ISSN 0025-7974

الإتاحة: https://doi.org/10.1097/md.0000000000001382Test