المؤلفون: Francesco Martello, Serena Lattante, Paolo Niccolò Doronzio, Amelia Conte, Giulia Bisogni, Daniela Orteschi, Filomena Pirozzi, Mario Sabatelli, Marcella Zollino, Giuseppe Marangi

المصدر: Stem Cell Research, Vol 55, Iss , Pp 102461- (2021)

مصطلحات موضوعية: Amyotrophic lateral sclerosis, FUS, Sendai virus, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S1873506121003081Test; https://doaj.org/toc/1873-5061Test

الوصول الحر: https://doaj.org/article/09de13cc8c8544ea972ad8fd83227b78Test

المؤلفون: Meixiang Zhang, Justine Ngo, Filomena Pirozzi, Ying-Pu Sun, Anthony Wynshaw-Boris

المصدر: Stem Cell Research & Therapy, Vol 9, Iss 1, Pp 1-13 (2018)

مصطلحات موضوعية: Induced pluripotent stem cells, Embryonic stem cells, Dorsal neural progenitor cells, Neuronal differentiation, Medicine (General), R5-920, Biochemistry, QD415-436

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13287-018-0812-6Test; https://doaj.org/toc/1757-6512Test

الوصول الحر: https://doaj.org/article/b7eb53383b734ff7bdc6fd63f2e106ccTest

المؤلفون: Esperanza Fernández, Elena Gennaro, Filomena Pirozzi, Chiara Baldo, Francesca Forzano, Licia Turolla, Francesca Faravelli, Denise Gastaldo, Domenico Coviello, Marina Grasso, Claudia Bagni

المصدر: Frontiers in Genetics, Vol 9 (2018)

مصطلحات موضوعية: FMRP, FMR1 mRNA, CGG expansion, fragile X syndrome, mosaicism, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fgene.2018.00442/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/41b5c010e4e84727a7ef3cf87a440b65Test

المؤلفون: Pietro Chiurazzi, Filomena Pirozzi

المصدر: F1000Research, Vol 5 (2016)

مصطلحات موضوعية: Bioinformatics, Developmental & Pediatric Neurology, Genomics, Medical Genetics, Medicine, Science

وصف الملف: electronic resource

العلاقة: http://f1000research.com/articles/5-599/v1Test; https://doaj.org/toc/2046-1402Test

الوصول الحر: https://doaj.org/article/18d9e5bd0ab64bf58d70089f4974af15Test

المؤلفون: Giuseppe Marangi, Giulia Bisogni, Daniela Orteschi, Francesco Martello, Amelia Conte, Filomena Pirozzi, Paolo Niccolò Doronzio, Mario Sabatelli, Marcella Zollino, Serena Lattante

مصطلحات موضوعية: Cell Biology, Developmental Biology, General Medicine

العلاقة: url:https://www.openaccessrepository.it/communities/itmirrorTest; https://www.openaccessrepository.it/record/88405Test

الإتاحة: https://doi.org/10.1016/j.scr.2021.102461Test
https://www.openaccessrepository.it/record/88405Test

المؤلفون: Joseph Porrmann, Jens Schallner, Deepika D'Cunha Burkardt, Maria Lisa Dentici, Pedro A. Sanchez-Lara, Ghayda M. Mirzaa, John M. Graham, William B. Dobyns, Nataliya Di Donato, Nicole Horsley, Benson Lee, Filomena Pirozzi, Claudia Cesario

المصدر: Am J Med Genet A

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, endocrine system, Microcephaly, Adolescent, 030105 genetics & heredity, Biology, Short stature, Article, Frameshift mutation, 03 medical and health sciences, Exon, Cyclin D2, Genetics, medicine, Humans, Megalencephaly, Child, Genetics (clinical), Brain, Infant, Human brain, medicine.disease, Phenotype, Polydactyly, 030104 developmental biology, medicine.anatomical_structure, Polymicrogyria, Mutation, Female, medicine.symptom, Hydrocephalus

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f13cae16d923801ca49cdfe2b5db66fTest
https://doi.org/10.1002/ajmg.a.62362Test

المؤلفون: Filomena Pirozzi, Matthew Berkseth, Rylee Shear, Lorenzo Gonzalez, Andrew E Timms, Josef Sulc, Emily Pao, Nora Oyama, Francesca Forzano, Valerio Conti, Renzo Guerrini, Emily S Doherty, Sulagna C Saitta, Christina M Lockwood, Colin C Pritchard, William B Dobyns, Edward Novotny, Jason N N Wright, Russell P Saneto, Seth Friedman, Jason Hauptman, Jeffrey Ojemann, Raj P Kapur, Ghayda M Mirzaa

المصدر: Brain

مصطلحات موضوعية: Original Article, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2397bd3ea16416ac521c3b8e3fc6a7e3Test
https://europepmc.org/articles/PMC9630661Test/

المؤلفون: Russell P. Saneto, Jason S. Hauptman, Oyama N, Saitta Sc, Conti, William B. Dobyns, Gonzalez L, Sulc J, Edward J. Novotny, Jeffrey G. Ojemann, Kapur Rp, Doherty Es, Berkseth M, Jason N. Wright, Forzano F, Renzo Guerrini, Filomena Pirozzi, Seth D. Friedman, Ghayda M. Mirzaa, Andrew E. Timms, Pao E, Shear R

مصطلحات موضوعية: Hemimegalencephaly, Epilepsy, Pathology, medicine.medical_specialty, medicine, Polymicrogyria, Molecular Diagnostic Method, Neuropathology, Megalencephaly, Cortical dysplasia, Biology, medicine.disease, Phenotype

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::27206a21f1de75a906091c808d7130cfTest
https://doi.org/10.1101/2021.06.09.21257462Test

المؤلفون: Daniel L. Polla, Sirous Zeinali, Nina A. Demina, Majid Yavarian, Stylianos E. Antonarakis, Sandra von Hardenberg, Saima Riazuddin, Filomena Pirozzi, Sven Hethey, Zubair M. Ahmed, Leah Fleming, Jacek Pilch, John Condie, Vasilina S. Sergeeva, Mohammad Ali Faghihi, Nael Nadif Kasri, Shima Bahramjahan, Neelam Fatima, Periklis Makrythanasis, Muhammad Ansar, Alena L. Chukhrova, Anke K. Bergmann, Hanka Venselaar, Mohsin Shahzad, Arjan P.M. de Brouwer, Mohammad Ali Farazi Fard, Hans van Bokhoven, Ghayda M. Mirzaa, Mohammad-Sadegh Fallah, Hennie T. Brüggenwirth, Olga Levchenko, Laura Donker Kaat, Afsaneh Taghipour Sheshdeh, Pooneh Nikuei, Amira Masri, Mureed Hussain, Agnieszka Pollak, Federico Santoni, Katrin Linda, Alexander Lavrov, Fareeha Fatima, Ebrahim Eftekhar, Hanan Hamamy, Gaia Ruggeri, Sheikh Riazuddin, Zahra Tabatabaei, Janneke H M Schuurs-Hoeijmakers, Rafał Płoski, Parham Habibzadeh, Mohammad Silawi

المساهمون: Clinical Genetics

المصدر: Genetics in Medicine, 23(7), 1246-1254. Lippincott Williams & Wilkins
Genetics in Medicine, 23, 1246-1254
Genetics in Medicine, 23, 7, pp. 1246-1254
Genet Med

مصطلحات موضوعية: 0301 basic medicine, 030105 genetics & heredity, Biology, Article, 03 medical and health sciences, Neurodevelopmental disorder, Intellectual Disability, Gene expression, Exome Sequencing, medicine, Humans, Induced pluripotent stem cell, Gene, Genetics (clinical), Exome sequencing, Genetics, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Human brain, medicine.disease, Hypotonia, Pedigree, Reverse transcription polymerase chain reaction, 030104 developmental biology, medicine.anatomical_structure, Neurodevelopmental Disorders, medicine.symptom, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd3f5a9e869e71a7190c0baaa8bc7696Test
https://pure.eur.nl/en/publications/01ef9fa8-3fe3-46f4-892f-0fdf1d5a6b76Test

المؤلفون: Filomena Pirozzi, Ghayda Mirzaa, Branden R. Nelson

المصدر: Dialogues in Clinical Neuroscience

مصطلحات موضوعية: 0301 basic medicine, Microcephaly, Biology, macrocephaly, 03 medical and health sciences, Epilepsy, Clinical Research, Intellectual disability, megalencephaly, medicine, Humans, Megalencephaly, Autistic Disorder, Macrocephaly, Brain, Organ Size, Human brain, medicine.disease, 3. Good health, 030104 developmental biology, medicine.anatomical_structure, brain size, Mutation, Brain size, Autism, medicine.symptom, Neuroscience

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3e0a1c86c4e129688cceb3b8d51fab2Test
https://doi.org/10.31887/dcns.2018.20.4/gmirzaaTest