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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2007 1
2008 4
2009 1
2011 2
2012 2
2013 1
2014 2
2015 4
2016 5
2017 5
2018 7
2019 5
2020 4
2021 3
2022 2
2023 0
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37 results
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Page 1
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
van der Spek J, den Hoed J, Snijders Blok L, Dingemans AJM, Schijven D, Nellaker C, Venselaar H, Astuti GDN, Barakat TS, Bebin EM, Beck-Wödl S, Beunders G, Brown NJ, Brunet T, Brunner HG, Campeau PM, Čuturilo G, Gilissen C, Haack TB, Hüning I, Husain RA, Kamien B, Lim SC, Lovrecic L, Magg J, Maver A, Miranda V, Monteil DC, Ockeloen CW, Pais LS, Plaiasu V, Raiti L, Richmond C, Rieß A, Schwaibold EMC, Simon MEH, Spranger S, Tan TY, Thompson ML, de Vries BBA, Wilkins EJ, Willemsen MH, Francks C, Vissers LELM, Fisher SE, Kleefstra T. van der Spek J, et al. Among authors: cuturilo g. Genet Med. 2022 Jun;24(6):1283-1296. doi: 10.1016/j.gim.2022.02.014. Epub 2022 Mar 26. Genet Med. 2022. PMID: 35346573
Mowat-Wilson syndrome: growth charts.
Ivanovski I, Djuric O, Broccoli S, Caraffi SG, Accorsi P, Adam MP, Avela K, Badura-Stronka M, Bayat A, Clayton-Smith J, Cocco I, Cordelli DM, Cuturilo G, Di Pisa V, Dupont Garcia J, Gastaldi R, Giordano L, Guala A, Hoei-Hansen C, Inaba M, Iodice A, Nielsen JEK, Kuburovic V, Lazalde-Medina B, Malbora B, Mizuno S, Moldovan O, Møller RS, Muschke P, Otelli V, Pantaleoni C, Piscopo C, Poch-Olive ML, Prpic I, Marín Reina P, Raviglione F, Ricci E, Scarano E, Simonte G, Smigiel R, Tanteles G, Tarani L, Trimouille A, Valera ET, Schrier Vergano S, Writzl K, Callewaert B, Savasta S, Street ME, Iughetti L, Bernasconi S, Giorgi Rossi P, Garavelli L. Ivanovski I, et al. Among authors: cuturilo g. Orphanet J Rare Dis. 2020 Jun 15;15(1):151. doi: 10.1186/s13023-020-01418-4. Orphanet J Rare Dis. 2020. PMID: 32539836 Free PMC article.
Wiskott-Aldrich syndrome with macrothrombocytopenia.
Skoric D, Dimitrijevic A, Cuturilo G, Ivanovski P. Skoric D, et al. Among authors: cuturilo g. Indian Pediatr. 2014 Dec;51(12):1015-6. doi: 10.1007/s13312-014-0550-5. Indian Pediatr. 2014. PMID: 25560165 Free article.
Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4-BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature.
Oliva-Teles N, de Stefano MC, Gallagher L, Rakic S, Jorge P, Cuturilo G, Markovska-Simoska S, Borg I, Wolstencroft J, Tümer Z, Harwood AJ, Kodra Y, Skuse D. Oliva-Teles N, et al. Among authors: cuturilo g. Int J Environ Res Public Health. 2020 Dec 10;17(24):9253. doi: 10.3390/ijerph17249253. Int J Environ Res Public Health. 2020. PMID: 33321999 Free PMC article. Review.
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.
Brinkmann J, Lissewski C, Pinna V, Vial Y, Pantaleoni F, Lepri F, Daniele P, Burnyte B, Cuturilo G, Fauth C, Gezdirici A, Kotzot D, Güleç EY, Iotova V, Schanze D, Ramond F, Havlovicová M, Utine GE, Simsek-Kiper PO, Stoyanova M, Verloes A, De Luca A, Tartaglia M, Cavé H, Zenker M. Brinkmann J, et al. Among authors: cuturilo g. Eur J Hum Genet. 2021 Mar;29(3):524-527. doi: 10.1038/s41431-020-00743-3. Epub 2020 Oct 20. Eur J Hum Genet. 2021. PMID: 33082526 Free PMC article.
[Mowat-Wilson syndrome--a case report].
Cuturilo G, Stefanović I, Jovanović I, Miletić-Grković S, Novaković I. Cuturilo G, et al. Srp Arh Celok Lek. 2009 Jul-Aug;137(7-8):426-9. doi: 10.2298/sarh0908426c. Srp Arh Celok Lek. 2009. PMID: 19764599 Free article. Serbian.
The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers.
Tylki-Szymańska A, Almássy Z, Christophidou-Anastasiadou V, Avdjieva-Tzavella D, Barisic I, Cerkauskiene R, Cuturilo G, Djiordjevic M, Gucev Z, Hlavata A, Kieć-Wilk B, Magner M, Pecin I, Plaiasu V, Samardzic M, Zafeiriou D, Zaganas I, Lampe C. Tylki-Szymańska A, et al. Among authors: cuturilo g. Orphanet J Rare Dis. 2022 Mar 24;17(1):136. doi: 10.1186/s13023-022-02285-x. Orphanet J Rare Dis. 2022. PMID: 35331284 Free PMC article.
Aplastic anemia and Turner syndrome.
Cuturilo G, Skoric D, Grkovic SM, Bojic V, Rodic P, Stefanovic I. Cuturilo G, et al. Cancer Genet Cytogenet. 2008 Jan 15;180(2):158-9. doi: 10.1016/j.cancergencyto.2007.09.021. Cancer Genet Cytogenet. 2008. PMID: 18206544 No abstract available.
37 results