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Page 1
Genitale Papeln bei einem Kind.
J Dtsch Dermatol Ges. 2021 Mar;19(3):469-470. doi: 10.1111/ddg.14188_g.
J Dtsch Dermatol Ges. 2021.
PMID: 33709585
German.
No abstract available.
NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron.
Gambadauro A, Mangano GD, Galletta K, Granata F, Riva A, Massella L, Guzzo I, Farello G, Scorrano G, Di Francesco L, Di Donato G, Ianni C, Di Ludovico A, La Bella S, Striano P, Efthymiou S, Houlden H, Nardello R, Chimenz R.
Gambadauro A, et al. Among authors: di donato g.
Genes (Basel). 2023 Nov 27;14(12):2143. doi: 10.3390/genes14122143.
Genes (Basel). 2023.
PMID: 38136965
Free PMC article.
Review.
Item in Clipboard
Genetic Background and Molecular Mechanisms of Juvenile Idiopathic Arthritis.
La Bella S, Rinaldi M, Di Ludovico A, Di Donato G, Di Donato G, Salpietro V, Chiarelli F, Breda L.
La Bella S, et al. Among authors: di donato g.
Int J Mol Sci. 2023 Jan 17;24(3):1846. doi: 10.3390/ijms24031846.
Int J Mol Sci. 2023.
PMID: 36768167
Free PMC article.
Review.
Item in Clipboard
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H.
Salpietro V, et al.
Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20.
Am J Hum Genet. 2024.
PMID: 38118446
Free PMC article.
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Brain and eye involvement in McCune-Albright Syndrome: clinical and translational insights.
Mascioli I, Iapadre G, Ingrosso D, Donato GD, Giannini C, Salpietro V, Chiarelli F, Farello G.
Mascioli I, et al. Among authors: donato gd.
Front Endocrinol (Lausanne). 2023 May 19;14:1092252. doi: 10.3389/fendo.2023.1092252. eCollection 2023.
Front Endocrinol (Lausanne). 2023.
PMID: 37274327
Free PMC article.
Review.
Item in Clipboard
Genital papules in a child.
Leuzzi M, Di Donato G, Baraldi C, Sechi A, Patrizi A, Neri I.
Leuzzi M, et al. Among authors: di donato g.
J Dtsch Dermatol Ges. 2021 Mar;19(3):469-470. doi: 10.1111/ddg.14188. Epub 2020 Aug 10.
J Dtsch Dermatol Ges. 2021.
PMID: 32776638
No abstract available.
Item in Clipboard
Diagnosis, treatment, and follow-up of a case of Wolman disease with hemophagocytic lymphohistiocytosis.
Baronio F, Conti F, Miniaci A, Carfagnini F, Di Natale V, Di Donato G, Testi M, Totaro C, De Fanti A, Boenzi S, Dionisi-Vici C, Esposito S, Pession A.
Baronio F, et al. Among authors: di donato g.
Mol Genet Metab Rep. 2021 Dec 20;30:100833. doi: 10.1016/j.ymgmr.2021.100833. eCollection 2022 Mar.
Mol Genet Metab Rep. 2021.
PMID: 35242567
Free PMC article.
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