المؤلفون: Maria Denaro, Elisa Ferro, Giuseppe Barrano, Salvatore Meli, Mariangela Busacca, Damiano Corallo, Alessia Capici, Alessandra Zisa, Luana Cucuzza, Sandra Gradante, Marialuisa Occhipinti, Paola Santalucia, Raffaele Elia, Angelo Aliquò, Daniele Tibullo, Carmelo Fidone, Vincenzo Bramanti

المصدر: International Journal of Molecular Sciences, Vol 24, Iss 5, p 4742 (2023)

مصطلحات موضوعية: COVID-19, SARS-CoV-2, immunoglobulins anti-N IgG, immunoglobulins anti-S1 IgG, immunoglobulins anti-S2 IgG, immunoglobulins anti-RBD IgG, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/24/5/4742Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/27a2e0bf7b7b482e8ebf6a01bb945669Test

المؤلفون: Silvia Amodeo, Giuseppe Vitrano, Melania Guardino, Giuseppe Paci, Fulvio Corselli, Vincenzo Antona, Giuseppe Barrano, Monia Magliozzi, Antonio Novelli, Renato Venezia, Giovanni Corsello

المصدر: Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-6 (2020)

مصطلحات موضوعية: Congenital heart diseases, Conotruncal heart defects, Facial dysmorphisms, MED12, Echocardiography, Next generation sequencing, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13052-020-00865-wTest; https://doaj.org/toc/1824-7288Test

الوصول الحر: https://doaj.org/article/788f534060fb4725b5794ad52828e25cTest

المؤلفون: Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A, SYNAPS Study Group, Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. SYNAPS Study Group: Michael G Hannah, Enrico Bugiardini, Enrico Bertini, Yamna Kriouile, Mohamed El-Khorassani, Mhammed Aguennouz, Stanislav Groppa, Blagovesta M Karashova, Jatinder S Goraya, Tipu Sultan, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Pierangelo Veggiotti, Alberto Verrotti, Marcello Lanari, Salvatore Savasta, Alfons Macaya, Barbara Garavaglia, Eugenia Borgione, Savvas Papacostas, Michail Vikelis, Viorica Chelban, Rauan Kaiyrzhanov, Andrea Cortese, Roisin Sullivan, Eleni Z Papanicolaou, Efthymios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat N Rana, Osama Atawneh, Shen-Yang Lim, Gian V Zuccotti, Gian L Marseglia, Susanna Esposito, Farooq Shaikh, Paola Cogo, Giovanni Corsello, Salvatore Mangano, Rosaria Nardello, Donato Mangano, Annarita Scardamaglia, George Koutsis, Carmela Scuderi, Pietro Ferrara, Giovanna Morello, Massimo Zollo, Roberto Berni-Canani, Luigi M Terracciano, Antonio Sisto, Sandra Di Fabio, Federica Strano, Giovanna Scorrano, Saverio Di Bella, Ludovica Di Francesco, Ganieva Manizha, Maksud Isrofilov, Ulviyya Guliyeva, Kamran Salayev, Samson Khachatryan, Georgia Xiromerisiou, Cleanthe Spanaki, Chiara Fiorillo, Michele Iacomino, Eugenio Gaudio, Francina Munell, Antonella Gagliano, Farida Jan, Roberto Chimenz, Eloisa Gitto, Lorenzo Iughetti, Gabriella Di Rosa, Mohamad Maghnie, Massimo Pettoello-Mantovani, Neerja Gupta, Madhulika Kabra, Hanene Benrhouma, Meriem Tazir, Gabriella Bottone, Giovanni Farello, Maurizio Delvecchio, Giulio Di-Donato, Makram Obeid, Sophia Bakhtadze, Nebal W Saadi, Michele Miraglia-Del-Giudice, Rita Maccarone, Maha S Zaki, Chahnez C Triki, Majdi Kara, Ehsan G Karimiani, Ahmed M Salih, Luca A Ramenghi, Marco Seri, Giovanna Di-Falco, Luana Mandarà, Giuseppe Barrano, Maurizio Elisa, Enrico Cherubini, Francesca F Operto, Mariella Valenzise, Antonino Cattaneo, Francesca Zazzeroni, Edoardo Alesse, Sara Matricardi, Faisal Zafar, Ehsan Ullah, Erum Afzal, Fatima Rahman, Muhammad M Ahmed, Pasquale Parisi, Alberto Spalice, Maria De Filippo, Amelia Licari, Edoardo Trebbi, Ferdinando Romano, Gali Heimer, Issam Al-Khawaja, Fuad Al-Mutairi, Fowzan S Alkuraya, Mie Rizig, Chingiz Shashkin, Nazira Zharkynbekova, Kairgali Koneyev

المساهمون: Salpietro, V, Maroofian, R, Zaki, M, Wangen, J, Ciolfi, A, Barresi, S, Efthymiou, S, Lamaze, A, Aughey, Gn, Al Mutairi, F, Rad, A, Rocca, C, Calì, E, Accogli, A, Zara, F, Striano, P, Mojarrad, M, Tariq, H, Giacopuzzi, E, Taylor, Jc, Oprea, G, Skrahina, V, Rehman, Ku, Abd Elmaksoud, M, Bassiony, M, El Said HG, Abdel-Hamid, M, Al Shalan, M, Seo, G, Kim, S, Lee, H, Khang, R, Issa, My, Elbendary, Hm, Rafat, K, Marinakis, Nm, Traeger-Synodinos, J, Ververi, A, Sourmpi, M, Eslahi, A, Khadivi Zand, F, Beiraghi Toosi, M, Babaei, M, Jackson, A, SYNAPS Study Group, Bertoli-Avella, A, Pagnamenta, At, Niceta, M, Battini, R, Corsello, A, Leoni, C, Chiarelli, F, Dallapiccola, B, Faqeih, Ea, Tallur, Kk, Alfadhel, M, Alobeid, E, Maddirevula, S, Mankad, K, Banka, S, Ghayoor-Karimiani, E, Tartaglia, M, Chung, Wk, Green, R, Alkuraya, F, Jec, Jepson, SYNAPS Study Group: Michael G Hannah, Houlden H., Bugiardini, Enrico, Bertini, Enrico, Kriouile, Yamna, El-Khorassani, Mohamed, Aguennouz, Mhammed, Groppa, Stanislav, Blagovesta, M Karashova, Jatinder, S Goraya, Sultan, Tipu, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Veggiotti, Pierangelo, Verrotti, Alberto, Lanari, Marcello, Savasta, Salvatore, Macaya, Alfon, Garavaglia, Barbara, Borgione, Eugenia, Papacostas, Savva, Vikelis, Michail, Chelban, Viorica, Kaiyrzhanov, Rauan, Cortese, Andrea, Sullivan, Roisin, Eleni, Z Papanicolaou, Dardiotis, Efthymio, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Nuzhat, N Rana, Atawneh, Osama

مصطلحات موضوعية: GREND syndrome, GTPBP1, GTPBP2, NBIA, animal model, ectodermal disorder, neurodegeneration, neurodevelopmental disorder, ribosome stalling, ribosomopathies

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38118446; volume:111; firstpage:200; lastpage:210; numberofpages:11; journal:AMERICAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11570/3284674Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85180561163

الإتاحة: https://doi.org/10.1016/j.ajhg.2023.11.012Test
https://hdl.handle.net/11570/3284674Test

المؤلفون: Calì, Elisa, Lin, Sheng-Jia, Rocca, Clarissa, Sahin, Yavuz, Al Shamsi, Aisha, El Chehadeh, Salima, Chaabouni, Myriam, Mankad, Kshitij, Galanaki, Evangelia, Efthymiou, Stephanie, Sudhakar, Sniya, Athanasiou-Fragkouli, Alkyoni, Çelik, Tamer, Narlı, Nejat, Bianca, Sebastiano, Murphy, David, De Carvalho Moreira, Francisco Martins, Andrea Accogli, null, Petree, Cassidy, Huang, Kevin, Monastiri, Kamel, Edizadeh, Masoud, Nardello, Rosaria, Ognibene, Marzia, De Marco, Patrizia, Ruggieri, Martino, Zara, Federico, Striano, Pasquale, Şahin, Yavuz, Al-Gazali, Lihadh, Abi Warde, Marie Therese, Gerard, Benedicte, Zifarelli, Giovanni, Beetz, Christian, Fortuna, Sara, Soler, Miguel, Valente, Enza Maria, Varshney, Gaurav, Maroofian, Reza, Salpietro, Vincenzo, Houlden, Henry, Michael G Hannah, Enrico Bugiardini, Yamna Kriouile, Mohamed El Khorassani, Mhammed Aguennouz, Stanislav Groppa, Blagovesta Marinova Karashova, Gabriella Di Rosa, Jatinder S Goraya, Tipu Sultan, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Pierangelo Veggiotti, Alberto Verrotti, Salvatore Savasta, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Savvas Papacostas, Chiara Compagnoni, Alessandra Piccirilli, Michail Vikelis, Viorica Chelban, Rauan Kaiyrzhanov, Andrea Cortese, Roisin Sullivan, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, Shen-Yang Lim, Farooq Shaikh, Annarita Scardamaglia, George Koutsis, Salvatore Mangano, Carmela Scuderi, Giovanna Morello, Massimo Zollo, Gali Heimer, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Fowzan S Alkuraya, Mie Rizig, Chingiz Shashkin, Nazira Zharkynbekova, Kairgali Koneyev, Ganieva Manizha, Maksud Isrofilov, Ulviyya Guliyeva, Kamran Salayev, Samson Khachatryan, Georgia Xiromerisiou, Cleanthe Spanaki, Arianna Tucci, Chiara Fiorillo, Federico Rissotto, Francina Munell, Antonella Gagliano, Farida Jan, Roberto Chimenz, Eloisa Gitto, Caterina Cuppari, Carmelo Romeo, Francesca Magrinelli, Neerja Gupta, Madhulika Kabra, Hanene Benrhouma, Meriem Tazir, Luca Zagaroli, Claudia Caloisi, Cecilia Fabiano, Gabriella Bottone, Giovanni Farello, Sandra Di Fabio, Makram Obeid, Sophia Bakhtadze, Nebal W Saadi, Maha S Zaki, Chahnez C Triki, Majdi Kara, Vincenzo Belcastro, Nicola Specchio, Ehsan G Karimiani, Ahmed M Salih, Luca A Ramenghi, Emanuele David, Riccardo Curró, Maria Laura Iezzi, Giulia Iapadre, Giuliana Nanni, Giovanna Scorrano, Maria F Fiorile, Francesco Brancati, Giovanna Di Falco, Luana Mandarà, Giuseppe Barrano, Maurizio Elia, Gaetano Terrone, Francesca F Operto, Mariella Valenzise, Ylenia Della Rocca, Francesca Zazzeroni, Edoardo Alesse, Filippo Manti, Serena Galosi, Francesca Nardecchia, Vincenzo Leuzzi, Erica Pironti, Greta Amore, Giorgia Ceravolo, Faisal Zafar, Ehsan Ullah, Erum Afzal, Iram Javed, Fatima Rahman, Muhammad Mehboob Ahmed, Pasquale Parisi, Paola Borgia, Giuseppe D Mangano, Francesco Chiarelli

المساهمون: Elisa, Calì, Sheng-Jia, Lin, Clarissa, Rocca, Yavuz, Sahin, Aisha, Al Shamsi, Salima, El Chehadeh, Myriam, Chaabouni, Kshitij, Mankad, Evangelia, Galanaki, Stephanie, Efthymiou, Sniya, Sudhakar, Alkyoni, Athanasiou-Fragkouli, Tamer, Çelik, Nejat, Narlı, Sebastiano, Bianca, David, Murphy, Francisco Martins, De Carvalho Moreira, Null, Andrea Accogli, Cassidy, Petree, Kevin, Huang, Kamel, Monastiri, Masoud, Edizadeh, Rosaria, Nardello, Marzia, Ognibene, Patrizia, De Marco, Martino, Ruggieri, Federico, Zara, Pasquale, Striano, Yavuz, Şahin, Lihadh, Al-Gazali, Marie Therese, Abi Warde, Benedicte, Gerard, Giovanni, Zifarelli, Christian, Beetz, Sara, Fortuna, Miguel, Soler, Enza Maria, Valente, Gaurav, Varshney, Reza, Maroofian, Vincenzo, Salpietro, Henry, Houlden, G Hannah, Michael, Bugiardini, Enrico, Kriouile, Yamna, El Khorassani, Mohamed, Aguennouz, Mhammed, Groppa, Stanislav, Marinova Karashova, Blagovesta, Di Rosa, Gabriella, S Goraya, Jatinder, Sultan, Tipu, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Veggiotti, Pierangelo, Verrotti, Alberto, Savasta, Salvatore, Macaya Ruiz, Alfon, Garavaglia, Barbara, Borgione, Eugenia, Papacostas, Savva, Compagnoni, Chiara, Piccirilli, Alessandra, Vikelis, Michail, Chelban, Viorica, Kaiyrzhanov, Rauan, Cortese, Andrea, Sullivan, Roisin, Zamba Papanicolaou, Eleni, Dardiotis, Efthymio, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Noureen Rana, Nuzhat, Atawneh, Osama, Lim, Shen-Yang, Shaikh, Farooq, Scardamaglia, Annarita, Koutsis, George, Mangano, Salvatore, Scuderi, Carmela, Morello, Giovanna, Zollo, Massimo, Heimer, Gali, Striano, Pasquale, Al-Khawaja, Issam, Al-Mutairi, Fuad, S Alkuraya, Fowzan, Rizig, Mie, Shashkin, Chingiz, Zharkynbekova, Nazira, Koneyev, Kairgali, Manizha, Ganieva, Isrofilov, Maksud, Guliyeva, Ulviyya, Salayev, Kamran, Khachatryan, Samson, Xiromerisiou, Georgia

مصطلحات موضوعية: Human mediator complex, MED11, MEDopathies

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36001086; info:eu-repo/semantics/altIdentifier/wos/WOS:000879580900020; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11573/1656558Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85136518302

الإتاحة: https://doi.org/10.1016/j.gim.2022.07.013Test
http://hdl.handle.net/11573/1656558Test

المؤلفون: Ester Sallicandro, Maria Teresa Liambo, Antonio Novelli, Maria Grazia Di Gregorio, Valeria Orlando, Michela Canestrelli, Marcello Niceta, Francesco Corrado, Gianluca Di Giacomo, Anna Maria Nardone, Bruno Dallapiccola, Silvia Di Tommaso, Viola Alesi, Giusy Calvieri, Giuseppe Barrano, Chiara Calacci

المصدر: Reproductive Sciences. 28:1142-1149

مصطلحات موضوعية: 0301 basic medicine, Amniotic fluid, DNA Copy Number Variations, Genetic counseling, Chromosome Disorders, Genetic Counseling, Context (language use), Prenatal diagnosis, Bioinformatics, Ultrasonography, Prenatal, Cytogenetics, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Prenatal Diagnosis, Humans, Medicine, Genetic Testing, Copy-number variation, Uncertain significance, 030219 obstetrics & reproductive medicine, business.industry, Ultrasound, Obstetrics and Gynecology, 030104 developmental biology, medicine.anatomical_structure, Karyotyping, Chorionic villi, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::264fa9d97d1ec16127214997e92a2cfdTest
https://doi.org/10.1007/s43032-020-00419-9Test

المؤلفون: Elisa Calì, Sheng-Jia Lin, Clarissa Rocca, Yavuz Sahin, Aisha Al Shamsi, Salima El Chehadeh, Myriam Chaabouni, Kshitij Mankad, Evangelia Galanaki, Stephanie Efthymiou, Sniya Sudhakar, Alkyoni Athanasiou-Fragkouli, Tamer Çelik, Nejat Narlı, Sebastiano Bianca, David Murphy, Francisco Martins De Carvalho Moreira, null Andrea Accogli, Cassidy Petree, Kevin Huang, Kamel Monastiri, Masoud Edizadeh, Rosaria Nardello, Marzia Ognibene, Patrizia De Marco, Martino Ruggieri, Federico Zara, Pasquale Striano, Yavuz Şahin, Lihadh Al-Gazali, Marie Therese Abi Warde, Benedicte Gerard, Giovanni Zifarelli, Christian Beetz, Sara Fortuna, Miguel Soler, Enza Maria Valente, Gaurav Varshney, Reza Maroofian, Vincenzo Salpietro, Henry Houlden, Michael G. Hannah, Enrico Bugiardini, Yamna Kriouile, Mohamed El Khorassani, Mhammed Aguennouz, Stanislav Groppa, Blagovesta Marinova Karashova, Gabriella Di Rosa, Jatinder S. Goraya, Tipu Sultan, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Pierangelo Veggiotti, Alberto Verrotti, Salvatore Savasta, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Savvas Papacostas, Chiara Compagnoni, Alessandra Piccirilli, Michail Vikelis, Viorica Chelban, Rauan Kaiyrzhanov, Andrea Cortese, Roisin Sullivan, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, Shen-Yang Lim, Farooq Shaikh, Annarita Scardamaglia, George Koutsis, Salvatore Mangano, Carmela Scuderi, Giovanna Morello, Massimo Zollo, Gali Heimer, Issam Al-Khawaja, Fuad Al-Mutairi, Fowzan S. Alkuraya, Mie Rizig, Chingiz Shashkin, Nazira Zharkynbekova, Kairgali Koneyev, Ganieva Manizha, Maksud Isrofilov, Ulviyya Guliyeva, Kamran Salayev, Samson Khachatryan, Georgia Xiromerisiou, Cleanthe Spanaki, Arianna Tucci, Chiara Fiorillo, Federico Rissotto, Francina Munell, Antonella Gagliano, Farida Jan, Roberto Chimenz, Eloisa Gitto, Caterina Cuppari, Carmelo Romeo, Francesca Magrinelli, Neerja Gupta, Madhulika Kabra, Hanene Benrhouma, Meriem Tazir, Luca Zagaroli, Claudia Caloisi, Cecilia Fabiano, Gabriella Bottone, Giovanni Farello, Sandra Di Fabio, Makram Obeid, Sophia Bakhtadze, Nebal W. Saadi, Maha S. Zaki, Chahnez C. Triki, Majdi Kara, Vincenzo Belcastro, Nicola Specchio, Ehsan G. Karimiani, Ahmed M. Salih, Luca A. Ramenghi, Emanuele David, Riccardo Curró, Maria Laura Iezzi, Giulia Iapadre, Giuliana Nanni, Giovanna Scorrano, Maria F. Fiorile, Francesco Brancati, Giovanna Di Falco, Luana Mandarà, Giuseppe Barrano, Maurizio Elia, Gaetano Terrone, Francesca F. Operto, Mariella Valenzise, Ylenia Della Rocca, Francesca Zazzeroni, Edoardo Alesse, Filippo Manti, Serena Galosi, Francesca Nardecchia, Vincenzo Leuzzi, Erica Pironti, Greta Amore, Giorgia Ceravolo, Faisal Zafar, Ehsan Ullah, Erum Afzal, Iram Javed, Fatima Rahman, Muhammad Mehboob Ahmed, Pasquale Parisi, Paola Borgia, Giuseppe D. Mangano, Francesco Chiarelli, Queen Square Genomics

المساهمون: Tıp Fakültesi

مصطلحات موضوعية: Mediator Complex, Homozygote, Human mediator complex, MED11, MEDopathies, Neurodegenerative Diseases, Human Mediator Complex, Animals, Humans, RNA, Zebrafish, Microcephaly, Medopathies, Genetics (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3ad32ae43b493e4ed17edb86a09aa52Test
https://hdl.handle.net/20.500.12445/2759Test

المؤلفون: Giuseppe Vitrano, Silvia Amodeo, Antonio Novelli, Melania Guardino, Giuseppe Paci, Giovanni Corsello, Monia Magliozzi, Fulvio Corselli, Vincenzo Antona, Renato Venezia, Giuseppe Barrano

المساهمون: Silvia Amodeo, Giuseppe Vitrano, Melania Guardino, Giuseppe Paci, Fulvio Corselli, Vincenzo Antona, Giuseppe Barrano, Monia Magliozzi, Antonio Novelli, Renato Venezia, Giovanni Corsello

المصدر: Italian Journal of Pediatrics
Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-6 (2020)

مصطلحات موضوعية: 0301 basic medicine, Adult, Heart Defects, Congenital, Male, Heart disease, Facial dysmorphism, Case Report, Genetic analysis, Facial dysmorphisms, Congenital heart diseases, 030218 nuclear medicine & medical imaging, Conotruncal heart defects, MED12, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Next generation sequencing, Prenatal Diagnosis, medicine, Humans, Genetic Testing, Gene, X chromosome, Congenital heart disease, Genetics, Mediator Complex, business.industry, lcsh:RJ1-570, lcsh:Pediatrics, medicine.disease, Phenotype, Fetal Diseases, 030104 developmental biology, Conotruncal heart defect, Echocardiography, Etiology, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e6ac3af4fc1299662a86b431a67ed1aTest
http://europepmc.org/articles/PMC7368728Test

المؤلفون: Giuseppe Barrano, Stefania Zampatti, Cristina Peconi, Carlo Caltagirone, Julia Mela, Antonio Novelli, Raffaella Cascella, Ilaria Zito, Giulia Pagliaroli, Filippo Milano, Stefania Carboni, Mauro Arcangeli, G L Marella, Emiliano Giardina

المصدر: Prenatal Diagnosis. 38:1096-1102

مصطلحات موضوعية: Adult, Electrophoresis, musculoskeletal diseases, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, DNA, Complementary, Genetic counseling, Chorionic villus sampling, 030105 genetics & heredity, Dystrophin, 03 medical and health sciences, Settore MED/43 - Medicina Legale, Pregnancy, Multiplex polymerase chain reaction, Humans, Medicine, Multiplex, Multiplex ligation-dependent probe amplification, Muscular dystrophy, Genetics (clinical), Genetics, medicine.diagnostic_test, Mosaicism, Reverse Transcriptase Polymerase Chain Reaction, Sequence Analysis, RNA, business.industry, Genetic Carrier Screening, Obstetrics and Gynecology, RNA, Abortion, Induced, DNA, Amplicon, medicine.disease, Muscular Dystrophy, Duchenne, 030104 developmental biology, Chorionic Villi Sampling, Female, business, Multiplex Polymerase Chain Reaction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e023b8fb5d9ec8456bca364c4005205aTest
https://doi.org/10.1002/pd.5369Test

المؤلفون: Simona Scala, Rosangela Ferese, Veronica Albano, Rosa Campopiano, Francesco Fornai, Giuseppe Barrano, Anna Maria Pia Griguoli, Stefania Zampatti, Emiliano Giardina, Giuseppe Novelli, Stefano Gambardella

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, L1, RNA Splicing, Prenatal diagnosis, Neural Cell Adhesion Molecule L1, Biology, 03 medical and health sciences, Cellular and Molecular Neuroscience, Exon, 0302 clinical medicine, Pregnancy, Prenatal Diagnosis, medicine, Humans, L1 syndrome, Minigene assay, Genetics, Genetic disorder, Genetic Diseases, X-Linked, General Medicine, Exons, medicine.disease, L1CAM, X-linked hydrocephalus, cellular and molecular neuroscience, Pedigree, 030104 developmental biology, HEK293 Cells, Settore MED/03 - Genetica Medica, RNA splicing, Mutation (genetic algorithm), Mutation, Female, Neuronal Cell Adhesion Molecule, 030217 neurology & neurosurgery, Hydrocephalus

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b37a3c40b2aced44be35ffc5eed4c43Test
https://hdl.handle.net/11576/2664948Test

المؤلفون: Giuseppe Barrano, Viola Alesi, Laura Bernardini, Diana Postorivo, Maria Lisa Dentici, Luigi Laino, Maria Grazia Giuffrida, Anna Maria Nardone, Michela Canestrelli, Didier Goidin, Antonio Novelli, Bruno Dallapiccola, Rita Genesio

المصدر: Journal of Genetic Syndromes & Gene Therapy.

مصطلحات موضوعية: 0301 basic medicine, 030219 obstetrics & reproductive medicine, Genetic counseling, Chromosome, Prenatal diagnosis, Karyotype, Biology, Subtelomere, Bioinformatics, Penetrance, Genome, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Cohort

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b62c1666b29f8a39cdc7a3f6005d86b2Test
https://doi.org/10.4172/2157-7412.1000277Test