المؤلفون: Sy, Mary, Chauhan, Jaynee, Prescott, Katrina, Imam, Aliza, Kraus, Alison, Beleza, Ana, Salkeld, Lee, Hosdurga, Saraswati, Parker, Michael, Vasudevan, Pradeep, Islam, Lily, Goel, Himanshu, Bain, Nicole, Park, Soo-Mi, Mohammed, Shehla, Dieterich, Klaus, Coutton, Charles, Satre, Véronique, Vieville, Gaëlle, Donaldson, Alan, Beneteau, Claire, Ghoumid, Jamal, Van Den Bogaert, Kris, Boogaerts, Anneleen, Boudry, Elise, Vanlerberghe, Clémence, Petit, Florence, Bernardini, Laura, Torres, Barbara, Mattina, Teresa, Carli, Diana, Mandrile, Giorgia, Pinelli, Michele, Brunetti-Pierri, Nicola, Neas, Katherine, Beddow, Rachel, Tørring, Pernille, Faletra, Flavio, Spedicati, Beatrice, Gasparini, Paolo, Mussa, Alessandro, Ferrero, Giovanni, Lampe, Anne, Lam, Wayne, Bi, Weimin, Bacino, Carlos, Kuwahara, Akela, Zhao, Xiaonan, Luna, Pamela, Shaw, Chad, Rosenfeld, Jill, Scott, Daryl, Bush, Jeffrey

المصدر: American Journal of Medical Genetics Part A. 188(12)

مصطلحات موضوعية: Fanconi anemia, NRXN1, TCF4, esophageal atresia, exome sequencing, tracheoesophageal fistula, Humans, Tracheoesophageal Fistula, Esophageal Atresia, Exome, Exome Sequencing

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4776v05tTest

المؤلفون: Mio, Catia, Zucco, Jessica, Fabbro, Dora, Bregant, Elisa, Baldan, Federica, Allegri, Lorenzo, D'Elia, Angela Valentina, Collini, Valentino, Imazio, Massimo, Damante, Giuseppe, Faletra, Flavio

المصدر: Clinical Genetics ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/cge.14569Test

المؤلفون: Bottega, Roberta, Perrone, Maria D, Vecchiato, Katy, Taddio, Andrea, Sabui, Subrata, Pecile, Vanna, Said, Hamid M, Faletra, Flavio

المصدر: Journal of Human Genetics. 64(11)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Nutrition, Neurodegenerative, Brain Disorders, Genetics, Rare Diseases, Neurosciences, Peripheral Neuropathy, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Good Health and Well Being, Adolescent, Brain Diseases, Genetic Predisposition to Disease, Humans, Male, Microcephaly, Mitochondrial Membrane Transport Proteins, Mutation, Protein Conformation, RNA, Messenger, Thiamine, Thiamine Deficiency, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8h80f6njTest

المؤلفون: Di Stazio, Mariateresa, Zanus, Caterina, Faletra, Flavio, Pesaresi, Alessia, Ziccardi, Ilaria, Morgan, Anna, Girotto, Giorgia, Costa, Paola, Carrozzi, Marco, d’Adamo, Adamo P., Musante, Luciana

المساهمون: Di Stazio, Mariateresa, Zanus, Caterina, Faletra, Flavio, Pesaresi, Alessia, Ziccardi, Ilaria, Morgan, Anna, Girotto, Giorgia, Costa, Paola, Carrozzi, Marco, D’Adamo, Adamo P., Musante, Luciana

مصطلحات موضوعية: WES, POBINDS, mRNA and protein instability, CK2beta haploinsufficiency, IDCS, KEN like-box, phenotypic continuum

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000944944900001; volume:14; issue:2; firstpage:"-"; lastpage:"-"; numberofpages:23; journal:GENES; https://hdl.handle.net/11368/3038020Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85148880034; https://www.mdpi.com/2073-4425/14/2/250Test

الإتاحة: https://doi.org/10.3390/genes14020250Test
https://hdl.handle.net/11368/3038020Test
https://www.mdpi.com/2073-4425/14/2/250Test

المؤلفون: Fantasia, Ilaria, Faletra, Flavio, Bussani, Rossana, Murru, Flora Maria, Ottaviani Giammarco, Chiara, Travan, Laura, Sirchia, Fabio, Feresin, Agnese, Stampalija, Tamara

المساهمون: Fantasia, Ilaria, Faletra, Flavio, Bussani, Rossana, Murru, Flora Maria, Ottaviani Giammarco, Chiara, Travan, Laura, Sirchia, Fabio, Feresin, Agnese, Stampalija, Tamara

مصطلحات موضوعية: Cavum septi pellucidi, PTEN gene, fetal MRI, neurosonography, targeted next generation sequencing

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37414745; info:eu-repo/semantics/altIdentifier/wos/WOS:001023262900001; volume:36; issue:2; firstpage:"-"; lastpage:"-"; numberofpages:7; journal:THE JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE; https://hdl.handle.net/11368/3051578Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85164257056

الإتاحة: https://doi.org/10.1080/14767058.2023.2232075Test
https://hdl.handle.net/11368/3051578Test

المؤلفون: Elefante, Pierandrea, Spedicati, Beatrice, Faletra, Flavio, Pignata, Laura, Cerrato, Flavia, Riccio, Andrea, Barbi, Egidio, Memo, Luigi, Travan, Laura

المساهمون: Elefante, Pierandrea, Spedicati, Beatrice, Faletra, Flavio, Pignata, Laura, Cerrato, Flavia, Riccio, Andrea, Barbi, Egidio, Memo, Luigi, Travan, Laura

مصطلحات موضوعية: Beckwith-wiedemann syndrome, Case report, Imprinting disorder, Twinning

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37749604; info:eu-repo/semantics/altIdentifier/wos/WOS:001073753000002; volume:49; issue:1; firstpage:N/A; lastpage:N/A; numberofpages:4; journal:THE ITALIAN JOURNAL OF PEDIATRICS; https://hdl.handle.net/11368/3059038Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85172098996; https://ijponline.biomedcentral.com/articles/10.1186/s13052-023-01530-8Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10521437Test/

الإتاحة: https://doi.org/10.1186/s13052-023-01530-8Test
https://hdl.handle.net/11368/3059038Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10521437Test/

المؤلفون: Fantasia, Ilaria, Catagini, Silvia, Zamagni, Giulia, Greco, Pantaleo, Bianchini, Irene, Bussolaro, Sofia, Quadrifoglio, Mariachiara, Lo Bello, Leila, Monasta, Lorenzo, Ricci, Giuseppe, Faletra, Flavio, Feresin, Agnese, Stampalija, Tamara

المساهمون: Fantasia, Ilaria, Catagini, Silvia, Zamagni, Giulia, Greco, Pantaleo, Bianchini, Irene, Bussolaro, Sofia, Quadrifoglio, Mariachiara, Lo Bello, Leila, Monasta, Lorenzo, Ricci, Giuseppe, Faletra, Flavio, Feresin, Agnese, Stampalija, Tamara

مصطلحات موضوعية: Nuchal translucency

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37264704; info:eu-repo/semantics/altIdentifier/wos/WOS:001004570600001; volume:43; issue:7; firstpage:929; lastpage:936; numberofpages:8; journal:PRENATAL DIAGNOSIS; https://hdl.handle.net/11368/3052339Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85161726342

الإتاحة: https://doi.org/10.1002/pd.6390Test
https://hdl.handle.net/11368/3052339Test

المؤلفون: Bogaert, Elke, Garde, Aurore, Gautier, Thierry, Rooney, Kathleen, Duffourd, Yannis, LeBlanc, Pontus, van Reempts, Emma, Tran Mau-Them, Frederic, Wentzensen, Ingrid M, Au, Kit Sing, Richardson, Kate, Northrup, Hope, Gatinois, Vincent, Geneviève, David, Louie, Raymond J, Lyons, Michael J, Laulund, Lone Walentin, Brasch-Andersen, Charlotte, Maxel Juul, Trine, El It, Fatima, Marle, Nathalie, Callier, Patrick, Relator, Raissa, Haghshenas, Sadegheh, McConkey, Haley, Kerkhof, Jennifer, Cesario, Claudia, Novelli, Antonio, Brunetti-Pierri, Nicola, Pinelli, Michele, Pennamen, Perrine, Naudion, Sophie, Legendre, Marine, Courdier, Cécile, Trimouille, Aurelien, Fenzy, Martine Doco, Pais, Lynn, Yeung, Alison, Nugent, Kimberly, Roeder, Elizabeth R, Mitani, Tadahiro, Posey, Jennifer E, Calame, Daniel, Yonath, Hagith, Rosenfeld, Jill A, Musante, Luciana, Faletra, Flavio, Montanari, Francesca, Sartor, Giovanna, Vancini, Alessandra, Seri, Marco, Besmond, Claude, Poirier, Karine, Hubert, Laurence, Hemelsoet, Dimitri, Munnich, Arnold, Lupski, James R, Philippe, Christophe, Thauvin-Robinet, Christel, Faivre, Laurence, Sadikovic, Bekim, Govin, Jérôme, Dermaut, Bart, Vitobello, Antonio

المساهمون: Bogaert, Elke, Garde, Aurore, Gautier, Thierry, Rooney, Kathleen, Duffourd, Yanni, LeBlanc, Pontu, van Reempts, Emma, Tran Mau-Them, Frederic, Wentzensen, Ingrid M, Au, Kit Sing, Richardson, Kate, Northrup, Hope, Gatinois, Vincent, Geneviève, David, Louie, Raymond J, Lyons, Michael J, Laulund, Lone Walentin, Brasch-Andersen, Charlotte, Maxel Juul, Trine, El It, Fatima, Marle, Nathalie, Callier, Patrick, Relator, Raissa, Haghshenas, Sadegheh, McConkey, Haley, Kerkhof, Jennifer, Cesario, Claudia, Novelli, Antonio, Brunetti-Pierri, Nicola, Pinelli, Michele, Pennamen, Perrine, Naudion, Sophie, Legendre, Marine, Courdier, Cécile, Trimouille, Aurelien, Fenzy, Martine Doco, Pais, Lynn, Yeung, Alison, Nugent, Kimberly, Roeder, Elizabeth R, Mitani, Tadahiro, Posey, Jennifer E, Calame, Daniel, Yonath, Hagith, Rosenfeld, Jill A, Musante, Luciana, Faletra, Flavio, Montanari, Francesca, Sartor, Giovanna, Vancini, Alessandra, Seri, Marco, Besmond, Claude, Poirier, Karine, Hubert, Laurence, Hemelsoet, Dimitri, Munnich, Arnold, Lupski, James R, Philippe, Christophe, Thauvin-Robinet, Christel, Faivre, Laurence, Sadikovic, Bekim, Govin, Jérôme, Dermaut, Bart, Vitobello, Antonio

مصطلحات موضوعية: Drosophila, SRSF1, epigenetic signature, haploinsufficiency, neurodevelopmental disorder, splicing

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37071997; info:eu-repo/semantics/altIdentifier/wos/WOS:001038185000001; volume:110; issue:5; firstpage:790; lastpage:808; numberofpages:19; journal:AMERICAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11585/964856Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85153601944; https://www.sciencedirect.com/science/article/pii/S0002929723001003Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2023.03.016Test
https://hdl.handle.net/11585/964856Test
https://www.sciencedirect.com/science/article/pii/S0002929723001003Test

المؤلفون: Tamaro, Gianluca, Baldo, Francesco, Spedicati, Beatrice, Taddio, Andrea, Faletra, Flavio, Barbi, Egidio

المساهمون: Tamaro, Gianluca, Baldo, Francesco, Spedicati, Beatrice, Taddio, Andrea, Faletra, Flavio, Barbi, Egidio

مصطلحات موضوعية: Big head, crossed toe, polysyndactily, Greig cephalopolysyndactyly syndrome

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35716028; info:eu-repo/semantics/altIdentifier/wos/WOS:000812628000001; volume:59; issue:5; firstpage:770; lastpage:771; numberofpages:2; journal:JOURNAL OF PAEDIATRICS AND CHILD HEALTH; https://hdl.handle.net/11368/3026633Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85132067932

الإتاحة: https://doi.org/10.1111/jpc.16063Test
https://hdl.handle.net/11368/3026633Test

المؤلفون: Bayat, Allan, Liu, Zhenjiang, Luo, Sheng, Fenger, Christina D., Højte, Anne F., Isidor, Bertrand, Cogne, Benjamin, Larson, Austin, Zanus, Caterina, Faletra, Flavio, Keren, Boris, Musante, Luciana, Gourfinkel-An, Isabelle, Perrine, Charles, Demily, Caroline, Lesca, Gaeton, Liao, Weiping, Ren, Dejian

المساهمون: Intellectual and Developmental Disabilities Research Center, Novo Nordisk Fonden, National Institutes of Health

المصدر: Genetics in Medicine ; volume 25, issue 9, page 100894 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2023.100894Test
https://api.elsevier.com/content/article/PII:S1098360023009073?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360023009073?httpAccept=text/plainTest