المؤلفون: Fatima Alabdulrazzaq, Talal Alanzi, Haya H. Al‐Balool, Alice Gardham, Emma Wakeling, Harry G. Leitch, Moeenaldeen AlSayed, Maha Abdulrahim, Abdulaziz Aladwani, Antonio Romito, Kapil Kampe, Sacha Ferdinandusse, Ashraf H. Aboelanine, Amira Abdullah, Amal Alwadani, Laila Bastaki, Frédéric M. Vaz, Aida M. Bertoli‐Avella, Dana Marafi

المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)

مصطلحات موضوعية: autosomal recessive, copy number variant, ELOVL4, neuro‐ichthyosis, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/c1b6f0f9da914f4fab255230f81999dfTest

المؤلفون: Antonietta Coppola, Antonio Romito, Christelle Borel, Corinne Gehrig, Maryline Gagnebin, Emilie Falconnet, Antonella Izzo, Lucia Altucci, Sandro Banfi, Stylianos E. Antonarakis, Gabriella Minchiotti, Gilda Cobellis

المصدر: Stem Cell Research, Vol 12, Iss 2, Pp 323-337 (2014)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S1873506113001700Test; https://doaj.org/toc/1873-5061Test; https://doaj.org/toc/1876-7753Test

الوصول الحر: https://doaj.org/article/9afed9bd1b1d496fab11a25aa8ee20b2Test

المؤلفون: Antonio Romito, Gilda Cobellis

المصدر: Stem Cells International, Vol 2016 (2016)

مصطلحات موضوعية: Internal medicine, RC31-1245

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1687-966XTest; https://doaj.org/toc/1687-9678Test

الوصول الحر: https://doaj.org/article/9c4eede404fb4cacaf630e9ee4533122Test

المؤلفون: Antonio Romito, Enza Lonardo, Guglielmo Roma, Gabriella Minchiotti, Andrea Ballabio, Gilda Cobellis

المصدر: PLoS ONE, Vol 5, Iss 2, p e9029 (2010)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC2815785?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/1c079c6655454b28a81dae81e13698c4Test

المؤلفون: Rinaldo, Sara, Cilia, Roberto, Leta, Valentina, Gammone, Mariarosaria, Golfrè Andreasi, Nico, Colucci, Fabiana, Braccia, Arianna, Telese, Roberta, Fusar Poli, Marco, Levi, Vincenzo, Antonio Romito, Luigi Michele, Ghilemetti, Francesco, De Martin, Elena, Fumagalli, Maria Luisa, Epifani, Francesca, Prioni, Sara, Amami, Paolo, Piacentini, Sylvie, Elia, Antonio Emanuele, Devigili, Grazia

المصدر: Frontiers in Neurology; 2024, p01-10, 10p

مصطلحات موضوعية: MOVEMENT disorders, MOVEMENT therapy, PARKINSON'S disease, ESSENTIAL tremor, GLOBUS pallidus

المؤلفون: Ana Westenberger, Adriana Ruiz‐Herrera, Sevcan Bozdoğan, Atil Bisgin, Mohammed Almuqbil, Amal Alhashem, Talal Alanzi, Antonio Romito, Arndt Rolfs, Patricia Dias, Raquel Gouveia Silva, Aida M. Bertoli‐Avella, Peter Bauer, Christian Beetz

المصدر: Movement Disorders. 38:502-504

مصطلحات موضوعية: Neurology, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8139c5e77263295a20a8c18b03fcdd7aTest
https://doi.org/10.1002/mds.29323Test

المؤلفون: Daphne J, Smits, Jordy, Dekker, Rachel, Schot, Brahim, Tabarki, Amal, Alhashem, Jeroen A A, Demmers, Dick H W, Dekkers, Antonio, Romito, Peter J, van der Spek, Tjakko J, van Ham, Aida M, Bertoli-Avella, Grazia M S, Mancini

المصدر: Human genetics.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::1a575152d52e66cddab7d384295800c9Test
https://pubmed.ncbi.nlm.nih.gov/36538041Test

المؤلفون: Minna Kraatari‐Tiri, Leila Soikkonen, Matti Myllykoski, Yalda Jamshidi, Ehsan G. Karimiani, Jonna Komulainen‐Ebrahim, Hanna Kallankari, Cyril Mignot, Christel Depienne, Boris Keren, Marie‐Christine Nougues, Zahra Alsahlawi, Antonio Romito, Javier Martini, Mehran B. Toosi, Christopher J. Carroll, Kornelia Tripolszki, Peter Bauer, Johanna Uusimaa, Aida M. Bertoli‐Avella, Peppi Koivunen, Elisa Rahikkala

المصدر: Clinical Genetics

مصطلحات موضوعية: recessive, Syndrome, Prolyl Hydroxylases, HIDEA, Phenotype, intellectual disability, Codon, Nonsense, Catalytic Domain, Intellectual Disability, Genetics, Humans, Muscle Hypotonia, P4HTM, Amino Acids, genes, Genetics (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f3ff71bbf7b86db1872485b1039de06Test
https://pubmed.ncbi.nlm.nih.gov/35908151Test

المؤلفون: Eissa A. Faqeih, Malak Ali Alghamdi, Marwa A. Almahroos, Essa Alharby, Makki Almuntashri, Amnah M. Alshangiti, Prouteau Clément, Daniel G. Calame, Leila Qebibo, Lydie Burglen, Martine Doco-Fenzy, Mario Mastrangelo, Annalaura Torella, Filippo Manti, Vincenzo Nigro, Ziegler Alban, Ghadeer Saleh Alharbi, Jamil Amjad Hashmi, Rawya Alraddadi, Razan Alamri, Tadahiro Mitani, Barth Magalie, Zeynep Coban-Akdemir, Bilgen Bilge Geckinli, Davut Pehlivan, Antonio Romito, Vasiliki Karageorgou, Javier Martini, Estelle Colin, Dominique Bonneau, Aida Bertoli-Avella, James R. Lupski, Annalisa Pastore, Roy W.A. Peake, Ashraf Dallol, Majid Alfadhel, Naif A.M. Almontashiri

المساهمون: Faqeih, Eissa A, Alghamdi, Malak Ali, Almahroos, Marwa A, Alharby, Essa, Almuntashri, Makki, Alshangiti, Amnah M, Clément, Prouteau, Calame, Daniel G, Qebibo, Leila, Burglen, Lydie, Doco-Fenzy, Martine, Mastrangelo, Mario, Torella, Annalaura, Manti, Filippo, Nigro, Vincenzo, Alban, Ziegler, Alharbi, Ghadeer Saleh, Hashmi, Jamil Amjad, Alraddadi, Rawya, Alamri, Razan, Mitani, Tadahiro, Magalie, Barth, Coban-Akdemir, Zeynep, Geckinli, Bilgen Bilge, Pehlivan, Davut, Romito, Antonio, Karageorgou, Vasiliki, Martini, Javier, Colin, Estelle, Bonneau, Dominique, Bertoli-Avella, Aida, Lupski, James R, Pastore, Annalisa, Peake, Roy W A, Dallol, Ashraf, Alfadhel, Majid, Almontashiri, Naif A M, Faqeih E. A. , Alghamdi M. A. , Almahroos M. A. , Alharby E., Almuntashri M., Alshangiti A. M. , Clément P., Calame D. G. , Qebibo L., Burglen L., et al.

مصطلحات موضوعية: GENETİK VE KALITIM, HECTD4, Intellectual disability, Life Sciences (LIFE), Molecular Biology and Genetics, Sağlık Bilimleri, Tıbbi Genetik, E3 ligase, Neurobehavioral differences, UBE3C, Yaşam Bilimleri, Health Sciences, GENETICS & HEREDITY, Moleküler Biyoloji ve Genetik, Neurobehavioral difference, Genetics (clinical), Internal Medicine Sciences, Temel Bilimler, Life Sciences, Dahili Tıp Bilimleri, Tıp, MOLECULAR BIOLOGY & GENETICS, Yaşam Bilimleri (LIFE), Genetik (klinik), Medicine, Natural Sciences, Medical Genetics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04c2dd92120eef11b5b24601e4473af4Test
https://hdl.handle.net/11573/1662950Test

المؤلفون: Antonio Romito, Enza Lonardo, Guglielmo Roma, Gabriella Minchiotti, Andrea Ballabio

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/11/f5/PLoS_One_2010_Feb_3_5(2)_e9029.tar.gz

وصف الملف: application/zip

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.356.6292Test