المؤلفون: Linyan Zhu, Rui Zhou, Lianxiao Zhang, Mei Chen, Shengmin Zhang, Xiaxi Huang, Yubo Shi, Huiqing Ding

المصدر: Frontiers in Pediatrics, Vol 12 (2024)

مصطلحات موضوعية: autosomal recessive congenital ichthyosis (ARCI), ABCA12 gene, variant, minigene assay, mRNA splicing, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1505924/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/597a5df968c24bafb7c335303f25b42d

المؤلفون: Jia‐Wei Liu, Kexin Guo, Rui Zhang, Rongrong Wang, Dong‐Lai Ma, Xue Zhang

المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 5, Pp n/a-n/a (2024)

مصطلحات موضوعية: ABCA12, autosomal recessive congenital ichthyosis (ARCI), compound heterozygous variants, congenital ichthyosiform erythroderma (CIE), genotype–phenotype correlations, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/d05577da968d4a2fb85ff0763d24f03f

المؤلفون: Alrun Hotz, Regina Fölster-Holst, Vinzenz Oji, Emmanuelle Bourrat, Jorge Frank, Slaheddine Marrakchi, Mariem Ennouri, Lotta Wankner, Katalin Komlosi, Svenja Alter, Judith Fischer

المصدر: Genes, Vol 15, Iss 3, p 288 (2024)

مصطلحات موضوعية: erythrokeratodermia variabilis, autosomal recessive congenital ichthyosis (ARCI), ABCA12, Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/15/3/288; https://doaj.org/toc/2073-4425; https://doaj.org/article/32abf182bde7493b8bec5527b0cab407

الاتاحة: https://doi.org/10.3390/genes15030288
https://doaj.org/article/32abf182bde7493b8bec5527b0cab407

المؤلفون: Hanife SAAT, Ibrahim SAHIN, Neslihan DUZKALE, Muzeyyen GONUL, Taha BAHSI

المصدر: Medeniyet Medical Journal, Vol 37, Iss 2, Pp 126-130 (2022)

مصطلحات موضوعية: congenital ichthyosis, arci, molecular diagnosis, ngs, Medicine

وصف الملف: electronic resource

Relation: https://jag.journalagent.com/z4/download_fulltext.asp?pdir=medeniyet&un=MEDJ-39924; https://doaj.org/toc/2149-2042; https://doaj.org/toc/2149-4606

URL الوصول: https://doaj.org/article/a86bb2982463454db65591825ce44cc2

المؤلفون: Vahlquist, Anders, Törmä, Hans, Professor, 1957

المصدر: Acta Dermato-Venereologica. 100:197-206

مصطلحات موضوعية: skin pH, ARCI, human epidermis, keratins, ceramides, therapy, epidermolytic, congenital, keratinocytes

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-412040
https://doi.org/10.2340/00015555-3433
https://uu.diva-portal.org/smash/get/diva2:1436696/FULLTEXT01.pdf

المؤلفون: Pamela Waller, Izabela Lomnicka, Cam Lucas, Sara Johnson, Levent Dirikolu

المصدر: Veterinary Medicine and Science, Vol 8, Iss 2, Pp 553-560 (2022)

مصطلحات موضوعية: AORC, ARCI, racehorses, racetracks, Veterinary medicine, SF600-1100

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2053-1095

URL الوصول: https://doaj.org/article/b94ffdc0913d46f290e896b84b8d8204

المؤلفون: Hotz, Alrun, Kopp, Julia, Bourrat, Emmanuelle, Oji, Vinzenz, Süßmuth, Kira, Komlosi, Katalin, Bouadjar, Bakar, Tantcheva-Poór, Iliana, Hellström Pigg, Maritta, Betz, Regina C, Giehl, Kathrin, Schedel, Fiona, Weibel, Lisa, Schulz, Solveig, Stölzl, Dora V, Tadini, Gianluca, Demiral, Emine, Berggard, Karin, Zimmer, Andreas D, Alter, Svenja, Fischer, Judith

المصدر: Hotz, Alrun; Kopp, Julia; Bourrat, Emmanuelle; Oji, Vinzenz; Süßmuth, Kira; Komlosi, Katalin; Bouadjar, Bakar; Tantcheva-Poór, Iliana; Hellström Pigg, Maritta; Betz, Regina C; Giehl, Kathrin; Schedel, Fiona; Weibel, Lisa; Schulz, Solveig; Stölzl, Dora V; Tadini, Gianluca; Demiral, Emine; Berggard, Karin; Zimmer, Andreas D; Alter, Svenja; Fischer, Judith (2023). Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis. Genes, 14(3):717.

مصطلحات موضوعية: Clinic for Surgery, 610 Medicine & health, ABCA12, ARCI, congenital ichthyosiform erythroderma, harlequin ichthyosis, lamellar ichthyosis

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/256526/1/ZORA_256526.pdf; info:pmid/36980989; urn:issn:2073-4425

الاتاحة: https://www.zora.uzh.ch/id/eprint/256526/
https://www.zora.uzh.ch/id/eprint/256526/1/ZORA_256526.pdf
https://doi.org/10.3390/genes14030717

المؤلفون: Lei Zhang, Yanqiu Hu, Jingjing Lu, Peiwei Zhao, Xiankai Zhang, Li Tan, Jun Li, Cuiping Xiao, Linkong Zeng, Xuelian He

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: ARCI, ALOX12B, whole-exome sequencing, mixed UPD (mixUPD), microtia, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.1036144/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/859d5ddd4cf84b5ab4d60d3a123ba291

المؤلفون: Carlo Luglie

المساهمون: Carlo Lugliè, Rossana Martorelli, Luglie', Carlo

مصطلحات موضوعية: Blade technology, Monte Arci obsidian, Pressure flaking technique, Chassey culture, Overseas interactions

Relation: info:eu-repo/semantics/altIdentifier/isbn/978-88-3312-073-7; ispartofbook:Ancient and modern knowledges. Transmission of models and techniques in the artistic and handicra_ products in Sardinia through the centuries; volume:1; firstpage:167; lastpage:187; numberofpages:21; serie:UNICAPRESS/RICERCA, SAGGI DI ARCHEOLOGIA E ANTICHISTICA; alleditors:Rossana Martorelli; https://hdl.handle.net/11584/352541

الاتاحة: https://hdl.handle.net/11584/352541
https://doi.org/10.13125/unicapress.978-88-3312-074-4

المؤلفون: Ranran Duan, Yanfei Li, Lijun Jing, Tian Zhang, Yaobing Yao, Zhe Gong, Yingzhe Shao, Yajun Song, Weijian Wang, Yong Zhang, Jingliang Cheng, Xiaofeng Zhu, Ying Peng, Yanjie Jia

المصدر: Frontiers in Psychology, Vol 13 (2022)

مصطلحات موضوعية: alcohol use disorder (AUD), alcohol-related cognitive impairment (ARCI), functional MRI, functional connectivity density (FCD), global functional connectivity density (gFCD), local functional connectivity density (lFCD), Psychology, BF1-990

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fpsyg.2022.973654/full; https://doaj.org/toc/1664-1078

URL الوصول: https://doaj.org/article/3786fae7c7014899a35c8452b428396e

المؤلفون: Lei Zhang, Yanqiu Hu, Jingjing Lu, Peiwei Zhao, Xiankai Zhang, Li Tan, Jun Li, Cuiping Xiao, Linkong Zeng, Xuelian He

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: ARCI, ALOX12B, whole-exome sequencing, mixed UPD (mixUPD), microtia, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.931833/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/0b826dc9a6a740369c7406c54be25cd3

المؤلفون: Silvia Quasimodo

المساهمون: Deidier, R, Silvia Quasimodo

مصطلحات موضوعية: Tito Balestra, Concerto per la Resistenza, Torino, Arci, Fondazione Arturo Toscanini

Relation: info:eu-repo/semantics/altIdentifier/isbn/9788896326176; ispartofbook:Tito Balestra poeta contemporaneo tra arte e letteratura del Novecento. Atti delle giornate di studi; Tito Balestra poeta contemporaneo tra arte e letteratura del Novecento; volume:1; firstpage:221; lastpage:240; numberofpages:20; serie:Studi e ricerche; alleditors:Deidier, R; https://hdl.handle.net/10447/638060

الاتاحة: https://hdl.handle.net/10447/638060

المؤلفون: Ranran Duan, Lijun Jing, Yanfei Li, Zhe Gong, Yaobing Yao, Weijian Wang, Yong Zhang, Jingliang Cheng, Ying Peng, Li Li, Yanjie Jia

المصدر: Frontiers in Aging Neuroscience, Vol 14 (2022)

مصطلحات موضوعية: alcohol-related cognitive impairment (ARCI), functional MRI, global signal topography, static GST, dynamic GST, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnagi.2022.803780/full; https://doaj.org/toc/1663-4365

URL الوصول: https://doaj.org/article/65d5a67380e54f4dbc870f4acdb4264d

المؤلفون: Fansi Zeng, Wenzhen Qin, Feifei Huang, Pingan Chang

المصدر: Metabolites; Volume 12; Issue 8; Pages: 685

مصطلحات موضوعية: PNPLA1, acylceramide, skin barrier, ARCI, gene mutation

وصف الملف: application/pdf

Relation: Cell Metabolism; https://dx.doi.org/10.3390/metabo12080685

الاتاحة: https://doi.org/10.3390/metabo12080685

المؤلفون: Hotz, Alrun, Kopp, Julia, Bourrat, Emmanuelle, Oji, Vinzenz, Komlosi, Katalin, Giehl, Kathrin, Bouadjar, Bakar, Bygum, Anette, Tantcheva-Poor, Iliana, Hellström Pigg, Maritta, Has, Cristina, Yang, Zhou, Irvine, Alan D., Betz, Regina C., Zambruno, Giovanna, Tadini, Gianluca, Süssmuth, Kira, Gruber, Robert, Schmuth, Matthias, Mazereeuw-Hautier, Juliette, Jonca, Natalie, Guez, Sophie, Brena, Michela, Hernandez-Martin, Angela, van den Akker, Peter, Bolling, Maria C., Hannula-Jouppi, Katariina, Zimmer, Andreas D., Alter, Svenja, Vahlquist, Anders, Fischer, Judith

المصدر: Genes. 12(1)

مصطلحات موضوعية: ALOX12B, ALOXE3, ARCI, ichthyosis

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-435727
https://uu.diva-portal.org/smash/get/diva2:1532167/FULLTEXT01.pdf

المؤلفون: Elisabetta STARNINI, Chiara PANELLI, François-Xavier Le BOURDONNEC &, Carlo LUGLIÈ

المساهمون: Paola Donato, Katalin B. Biró, Andreás Markó, Elisabetta, Starnini, Chiara, Panelli, François-Xavier Le BOURDONNEC &, Luglie', Carlo

مصطلحات موضوعية: Monte Arci, PIXE, Obsidian sourcing, EDXRF, Early Neolithic, Pollera Cave

Relation: info:eu-repo/semantics/altIdentifier/isbn/978-615-5978-36-4; ispartofbook:Beyond the Glass Mountains. Papers presented for the 2019 International Obsidian Conference. 27-29 May 2019, Sárospatak; volume:14; firstpage:57; lastpage:68; numberofpages:12; serie:INVENTARIA PRAEHISTORICA HUNGARIAE; alleditors:Katalin B. Biró, Andreás Markó; http://hdl.handle.net/11584/318779

الاتاحة: http://hdl.handle.net/11584/318779

المؤلفون: Uxia Esperón-Moldes, Manuel Ginarte Val, Laura Rodríguez-Pazos, Laura Fachal, José Manuel Azaña, María Barberá Fons, Mónica Viejo Diaz, Ana Vega

المصدر: Acta Dermato-Venereologica, Vol 99, Iss 10, Pp 894-898 (2019)

مصطلحات موضوعية: ARCI, Spanish population, PNPLA1, founder effects, c.417_418delinsTC, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: https://www.medicaljournals.se/acta/content/html/10.2340/00015555-3227; https://doaj.org/toc/0001-5555; https://doaj.org/toc/1651-2057

URL الوصول: https://doaj.org/article/1e8317223ec9403bb761232d892d5400

المؤلفون: Hellström Pigg, Maritta, Bygum, Anette, Gånemo, Agneta, Virtanen, Marie, Brandrup, Flemming, Zimmer, Andreas D., Hotz, Alrun, Vahlquist, Anders, Fischer, Judith

المصدر: Acta Dermato-Venereologica. 96(7):932-937

مصطلحات موضوعية: ARCI, Collodion baby, Congenital ichthyosiform erythroderma, Harlequin ichthyosis, Lamellar ichthyosis, Pleomorphic ichthyosis, Medicin och hälsovetenskap, Klinisk medicin, Dermatologi och venereologi, Medical and Health Sciences, Clinical Medicine, Dermatology and Venereal Diseases

URL الوصول: https://lup.lub.lu.se/record/426659cd-4f30-4b7a-9293-cb1e45a53329
http://dx.doi.org/10.2340/00015555-2418

المؤلفون: Barbara Melosu, Laura Fanti, Francois-Xavier Le Bourdonnec, Stephan Dubernet, Salvatore Sebis, Carlo Lugliè

المساهمون: Melosu, Barbara, Fanti, Laura, Le Bourdonnec, Francois-Xavier, Dubernet, Stephan, Sebis, Salvatore, Lugliè, Carlo

مصطلحات موضوعية: Obsidian, Monte Arci, Characterization, middle Neolithic B

Relation: volume:LXXIV; firstpage:1; lastpage:21; numberofpages:21; journal:RIVISTA DI SCIENZE PREISTORICHE; https://hdl.handle.net/11584/428364

الاتاحة: https://hdl.handle.net/11584/428364
https://doi.org/10.32097/1223

المؤلفون: Gabriella Tamburro, Pierpaolo Croce, Filippo Zappasodi, Silvia Comani

المصدر: Frontiers in Neuroscience, Vol 14 (2021)

مصطلحات موضوعية: EEG, artifact removal, ICA, optimized fingerprint method, ARCI approach, microstate analysis, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnins.2020.577160/full; https://doaj.org/toc/1662-453X

URL الوصول: https://doaj.org/article/97addaeea79b4254a82e413d6c53b3a5