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

Year Number of Results
2004 2
2005 2
2006 1
2007 7
2008 4
2009 10
2010 4
2011 12
2012 9
2013 9
2014 9
2015 5
2016 9
2017 9
2018 9
2019 9
2020 12
2021 30
2022 28
2023 33
2024 19

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206 results

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Page 1
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Rots D, Jakub TE, Keung C, Jackson A, Banka S, Pfundt R, de Vries BBA, van Jaarsveld RH, Hopman SMJ, van Binsbergen E, Valenzuela I, Hempel M, Bierhals T, Kortüm F, Lecoquierre F, Goldenberg A, Hertz JM, Andersen CB, Kibæk M, Prijoles EJ, Stevenson RE, Everman DB, Patterson WG, Meng L, Gijavanekar C, De Dios K, Lakhani S, Levy T, Wagner M, Wieczorek D, Benke PJ, Lopez Garcia MS, Perrier R, Sousa SB, Almeida PM, Simões MJ, Isidor B, Deb W, Schmanski AA, Abdul-Rahman O, Philippe C, Bruel AL, Faivre L, Vitobello A, Thauvin C, Smits JJ, Garavelli L, Caraffi SG, Peluso F, Davis-Keppen L, Platt D, Royer E, Leeuwen L, Sinnema M, Stegmann APA, Stumpel CTRM, Tiller GE, Bosch DGM, Potgieter ST, Joss S, Splitt M, Holden S, Prapa M, Foulds N, Douzgou S, Puura K, Waltes R, Chiocchetti AG, Freitag CM, Satterstrom FK, De Rubeis S, Buxbaum J, Gelb BD, Branko A, Kushima I, Howe J, Scherer SW, Arado A, Baldo C, Patat O, Bénédicte D, Lopergolo D, Santorelli FM, Haack TB, Dufke A, Bertrand M, Falb RJ, Rieß A, Krieg P, Spranger S, Bedeschi MF, Iascone M, Josephi-Taylor S, Roscioli T, Buckley MF, Liebelt J, Dagli AI, Aten E, Hurst ACE, Hicks A, Suri M, Aliu E, Naik S, Sidlow R, Coursimault J, Ni… See abstract for full author list ➔ Rots D, et al. Among authors: sousa sb. Am J Hum Genet. 2023 Jun 1;110(6):963-978. doi: 10.1016/j.ajhg.2023.04.008. Epub 2023 May 16. Am J Hum Genet. 2023. PMID: 37196654 Free PMC article.
Congenital cutaneous ossification.
Gomes TF, Kieselová K, Santiago F, Cardoso JC, Cunha F, Sousa SB, Perez de Nanclares G. Gomes TF, et al. Among authors: sousa sb. J Paediatr Child Health. 2022 Jul;58(7):1262-1264. doi: 10.1111/jpc.15814. Epub 2021 Oct 27. J Paediatr Child Health. 2022. PMID: 34706128 No abstract available.
The Biofilms Structural Database.
Magalhães RP, Vieira TF, Fernandes HS, Melo A, Simões M, Sousa SF. Magalhães RP, et al. Among authors: sousa sf. Trends Biotechnol. 2020 Sep;38(9):937-940. doi: 10.1016/j.tibtech.2020.04.002. Epub 2020 May 5. Trends Biotechnol. 2020. PMID: 32386874 Review.
Editorial: The Chemistry of Biofilms and Their Inhibitors.
Sousa SF, Simões M, Filipović N. Sousa SF, et al. Front Chem. 2020 Aug 20;8:746. doi: 10.3389/fchem.2020.00746. eCollection 2020. Front Chem. 2020. PMID: 32974287 Free PMC article. No abstract available.
A Molecular Perspective on Sirtuin Activity.
Teixeira CSS, Cerqueira NMFSA, Gomes P, Sousa SF. Teixeira CSS, et al. Among authors: sousa sf. Int J Mol Sci. 2020 Nov 15;21(22):8609. doi: 10.3390/ijms21228609. Int J Mol Sci. 2020. PMID: 33203121 Free PMC article. Review.
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Kumble S, Levy AM, Punetha J, Gao H, Ah Mew N, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Campos-Xavier B, Ciliberto M, Cohen JS, Comi AM, Curry C, Damaj L, Denommé-Pichon AS, Emrick L, Faivre L, Fasano MB, Fiévet A, Finkel RS, García-Miñaúr S, Gerard A, Gomez-Puertas P, Guillen Sacoto MJ, Hoffman TL, Howard L, Iglesias AD, Izumi K, Larson A, Leiber A, Lozano R, Marcos-Alcalde I, Mintz CS, Mullegama SV, Møller RS, Odent S, Oppermann H, Ostergaard E, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Paulson AM, Platzer K, Posey JE, Potocki L, Revah-Politi A, Rio M, Ritter AL, Robinson S, Rosenfeld JA, Santos-Simarro F, Sousa SB; Undiagnosed Diseases Network; Wéber M, Xie Y, Chung WK, Brown NJ, Tümer Z. Kumble S, et al. Among authors: sousa sb. Hum Mutat. 2022 Feb;43(2):266-282. doi: 10.1002/humu.24308. Epub 2021 Dec 11. Hum Mutat. 2022. PMID: 34859529 Free article.
What do we know about feline leishmaniosis?
Soares CS, Duarte SC, Sousa SR. Soares CS, et al. Among authors: sousa sr. J Feline Med Surg. 2016 Jun;18(6):435-42. doi: 10.1177/1098612X15589358. Epub 2015 Jun 26. J Feline Med Surg. 2016. PMID: 26116620 Review.
Role of Goats in the Epidemiology of Coxiella burnetii.
Anastácio S, de Sousa SR, Saavedra MJ, da Silva GJ. Anastácio S, et al. Among authors: de sousa sr. Biology (Basel). 2022 Nov 25;11(12):1703. doi: 10.3390/biology11121703. Biology (Basel). 2022. PMID: 36552213 Free PMC article. Review.
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.
Szenker-Ravi E, Altunoglu U, Leushacke M, Bosso-Lefèvre C, Khatoo M, Thi Tran H, Naert T, Noelanders R, Hajamohideen A, Beneteau C, de Sousa SB, Karaman B, Latypova X, Başaran S, Yücel EB, Tan TT, Vlaminck L, Nayak SS, Shukla A, Girisha KM, Le Caignec C, Soshnikova N, Uyguner ZO, Vleminckx K, Barker N, Kayserili H, Reversade B. Szenker-Ravi E, et al. Among authors: de sousa sb. Nature. 2018 May;557(7706):564-569. doi: 10.1038/s41586-018-0118-y. Epub 2018 May 16. Nature. 2018. PMID: 29769720
206 results