المؤلفون: Politano, Davide^1,2 (AUTHOR), Catalano, Guido^1,2 (AUTHOR), Pezzotti, Elena^1,3 (AUTHOR), Varesio, Costanza^1,2 (AUTHOR), Sirchia, Fabio^4,5 (AUTHOR), Casella, Antonella^4,6 (AUTHOR), Rognone, Elisa⁷ (AUTHOR), Pichiecchio, Anna^1,7 (AUTHOR), Borgatti, Renato^1,2 (AUTHOR), Orcesi, Simona^1,2 (AUTHOR) simona.orcesi@mondino.it

المصدر: Genes. Sep2023, Vol. 14 Issue 9, p1817. 15p.

مصطلحات موضوعية: *NATURAL history, *LEUKOENCEPHALOPATHIES, *CALCIFICATION, *CHILD patients, *ORGANELLE formation, *BEVACIZUMAB, *PREMATURE labor, *DYSPLASIA

المؤلفون: Trevisan, Valentina, Meroni, Anna, Leoni, Chiara, Sirchia, Fabio, Politano, Davide, Fiandrino, Giacomo, Giorgio, Valentina, Rigante, Donato, Limongelli, Domenico, Perri, Lucrezia, Sforza, Elisabetta, Leonardi, Francesca, Viscogliosi, Germana, Contaldo, Ilaria, Orteschi, Daniela, Proietti, Luca, Zampino, Giuseppe, Onesimo, Roberta

المصدر: Genes; Mar2024, Vol. 15 Issue 3, p346, 22p

مصطلحات موضوعية: TRISOMY, MOSAICISM, DELAYED diagnosis, GENETIC counseling, NATURAL history, HEART abnormalities

المؤلفون: Buchignani, Bianca, Marinella, Gemma, Pasquariello, Rosa, Sgherri, Giada, Frosini, Silvia, Santorelli, Filippo Maria, Orsini, Alessandro, Battini, Roberta, Astrea, Guja

المصدر: Genes; Feb2024, Vol. 15 Issue 2, p208, 13p

مصطلحات موضوعية: NEMALINE myopathy, MUSCLE diseases, NATURAL history, GENE therapy, DISEASE progression

المؤلفون: Danilchenko, Valeriia Yu.^1,2 (AUTHOR) danilchenko_valeri@mail.ru, Zytsar, Marina V.¹ (AUTHOR) zytzar@bionet.nsc.ru, Maslova, Ekaterina A.^1,2 (AUTHOR) maslova@bionet.nsc.ru, Orishchenko, Konstantin E.^1,2 (AUTHOR) keor@bionet.nsc.ru, Posukh, Olga L.^1,2 (AUTHOR) posukh@bionet.nsc.ru

المصدر: Genes. Apr2023, Vol. 14 Issue 4, p928. 13p.

مصطلحات موضوعية: *NATURAL history, *HEARING disorders, *RECESSIVE genes, *HAPLOTYPES, *CHINESE people, *GENETIC variation

مصطلحات جغرافية: TUVA (Russia)

المؤلفون: Copelli, Matheus de Mello¹ (AUTHOR) m159476@dac.unicamp.br, Pairet, Eleonore² (AUTHOR), Atique-Tacla, Milena¹ (AUTHOR), Vieira, Társis Paiva¹ (AUTHOR), Appenzeller, Simone³ (AUTHOR), Helaers, Raphaël² (AUTHOR), Vikkula, Miikka² (AUTHOR), Gil-da-Silva-Lopes, Vera Lúcia¹ (AUTHOR) vgslopes@unicamp.br

المصدر: Genes. Apr2023, Vol. 14 Issue 4, p882. 8p.

مصطلحات موضوعية: *LITERATURE reviews, *NATURAL history, *CRANIOFACIAL abnormalities, *ADULTS, *GENETIC variation

المؤلفون: Ligezka, Anna N., Budhraja, Rohit, Nishiyama, Yurika, Fiesel, Fabienne C., Preston, Graeme, Edmondson, Andrew, Ranatunga, Wasantha, Van Hove, Johan L. K., Watzlawik, Jens O., Springer, Wolfdieter, Pandey, Akhilesh, Morava, Eva, Kozicz, Tamas

المصدر: Genes; Aug2023, Vol. 14 Issue 8, p1585, 20p

مصطلحات موضوعية: BIOENERGETICS, AUTOPHAGY, NATURAL history, ENDOPLASMIC reticulum, MITOCHONDRIAL pathology

المؤلفون: Montes, Andrea S, Osann, Kathryn E, Gold, June Anne, Tamura, Roy N, Driscoll, Daniel J, Butler, Merlin G, Kimonis, Virginia E

المصدر: Genes. 11(11)

مصطلحات موضوعية: PWS genetic subtype–phenotype correlations, PWS molecular classes, Prader-Willi syndrome, growth hormone treatment, natural history, psychiatric behavioral phenotype, PWS genetic subtype–, phenotype correlations, Genetics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7vn2v4k6Test

المؤلفون: Velasco, Juan J., Li, Yupeng, Ziganshin, Bulat A., Zafar, Mohammad A., Rizzo, John A., Ma, Deqiong, Zang, Hui, Kalyanasundaram, Asanish, Elefteriades, John A.

المصدر: Genes; Feb2023, Vol. 14 Issue 2, p252, 13p

مصطلحات موضوعية: AORTIC dissection, THORACIC aneurysms, GENETIC variation, DISSECTING aneurysms, NATURAL history

المؤلفون: Davide Politano, Guido Catalano, Elena Pezzotti, Costanza Varesio, Fabio Sirchia, Antonella Casella, Elisa Rognone, Anna Pichiecchio, Renato Borgatti, Simona Orcesi

المصدر: Genes, Vol 14, Iss 9, p 1817 (2023)

مصطلحات موضوعية: SNORD118, coats plus, LCC, bevacizumab, ribosomopathy, natural history, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/14/9/1817Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/62f5e8d269734952b94d732a619399bfTest

المؤلفون: Matheus de Mello Copelli, Eleonore Pairet, Milena Atique-Tacla, Társis Paiva Vieira, Simone Appenzeller, Raphaël Helaers, Miikka Vikkula, Vera Lúcia Gil-da-Silva-Lopes

المصدر: Genes, Vol 14, Iss 4, p 882 (2023)

مصطلحات موضوعية: natural history, whole-exome sequencing, cleft palate, behavior problems, osteopenia, SATB2, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/14/4/882Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/b1abe99f94534b0387c5acd89f159071Test