المؤلفون: Mirella Vinci, Simone Treccarichi, Rosanna Galati Rando, Antonino Musumeci, Valeria Todaro, Concetta Federico, Salvatore Saccone, Maurizio Elia, Francesco Calì

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)

مصطلحات موضوعية: Ubiquitination, Whole exome sequencing, Autism spectrum disorder, E3 ubiquitin-protein ligase, Splicing region, Autosomal dominant inheritance model, Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/afe92c20c5f64e3f9faef09770125098

المؤلفون: Happle, Rudolf^{Aff1, IDs00105023051354_cor1}

المصدر: Die Dermatologie: Zeitschrift für Dermatologie, Venerologie und verwandte Gebiete. 74(5):310-315

المؤلفون: Margareta Fistrek Prlic, Sanda Huljev Frkovic, Bodo Beck, Ivana Tonkovic Durisevic, Stela Bulimbasic, Marijana Coric, Lovro Lamot, Ema Ivandic, Ivana Vukovic Brinar

المصدر: Frontiers in Pediatrics, Vol 11 (2023)

مصطلحات موضوعية: hereditary kidney disease, autosomal dominant inheritance, tubulointerstitial kidney disease, kidney cyst, renal failure, case report, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2023.1283325/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/87de7d133de64c65a9214404dda0a93a

المؤلفون: Vinci, Mirella, Treccarichi, Simone, Galati Rando, Rosanna, Musumeci, Antonino, Todaro, Valeria, Federico, Concetta, Saccone, Salvatore^{Aff3, IDs41598024664752_cor7}, Elia, Maurizio, Calì, Francesco

المصدر: Scientific Reports. 14(1)

المؤلفون: Ueno, Sayaka^Aff4, Hirasawa, Akira^Aff4

المساهمون: Konishi, Ikuo, Series Editor^Aff1, Katabuchi, Hidetaka, Series Editor^Aff2, Mandai, Masaki, editor^Aff3

المصدر: Personalization in Gynecologic Oncology. :87-113

المؤلفون: Enomoto, Nobuko, Hayashi, Takaaki^{Aff2, Aff3, IDs10633021098593_cor2}, Matsuura, Tomokazu, Tanaka, Koji, Takeuchi, Remi, Tomita, Goji, Mori, Ryusaburo

المصدر: Documenta Ophthalmologica: The Journal of Clinical Electrophysiology and Vision - The Official Journal of the International Society for Clinical Electrophysiology and Vision. 144(1):67-75

المؤلفون: Mirko Aldè, Giovanna Cantarella, Diego Zanetti, Lorenzo Pignataro, Ignazio La Mantia, Luigi Maiolino, Salvatore Ferlito, Paola Di Mauro, Salvatore Cocuzza, Jérôme René Lechien, Giannicola Iannella, Francois Simon, Antonino Maniaci

المصدر: Biomedicines, Vol 11, Iss 6, p 1616 (2023)

مصطلحات موضوعية: genetic hearing loss, autosomal dominant inheritance, non-syndromic hearing loss, genes, loci, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9059/11/6/1616; https://doaj.org/toc/2227-9059

URL الوصول: https://doaj.org/article/a2fe1e0975ec4b3fa4f79ace85c4274a

المؤلفون: X Jin, W Liu, LH Qv, WQ X, HB Huang

المصدر: BMC Ophthalmology, Vol 21, Iss 1, Pp 1-7 (2021)

مصطلحات موضوعية: Aniridia, Autosomal dominant inheritance, PAX6 gene, Mutation, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2415

URL الوصول: https://doaj.org/article/70e99b1282c7406e946b45b6ffcce3ab

المؤلفون: Hutterer, Markus^Aff1

المصدر: psychopraxis. neuropraxis: Zeitschrift für praktische Psychiatrie und Neurologie. 24(1):30-36

المؤلفون: Jin, X, Liu, W, Qv, LH, X, WQ, Huang, HB^{Aff1, Aff2, Aff4}

المصدر: BMC Ophthalmology. 21(1)