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A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, Moufawad El Achkar C, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ; DDD Study, Donadieu J, Narayanan V, Ramsey KM; C4RCD Research Group, Nava C, Rivière JB, Vitobello A, Tran Mau-Them F, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C. Olson HE, et al. Among authors: fransen van de putte de. Am J Hum Genet. 2018 May 3;102(5):995-1007. doi: 10.1016/j.ajhg.2018.03.005. Epub 2018 Apr 12. Am J Hum Genet. 2018. PMID: 29656858 Free PMC article.
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, El Achkar CM, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ; DDD Study, Donadieu J, Narayanan V, Ramsey KM; C4RCD Research Group, Nava C, Rivière JB, Vitobello A, Mau-Them FT, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C. Olson HE, et al. Among authors: fransen van de putte de. Am J Hum Genet. 2018 Oct 4;103(4):631. doi: 10.1016/j.ajhg.2018.09.002. Am J Hum Genet. 2018. PMID: 30290155 Free PMC article. No abstract available.
Does haemophilia protect against ischaemic cardiovascular disease?
Fransen Van De Putte DE, Fischer K, Schutgens RE, Mauser-Bunschoten EP. Fransen Van De Putte DE, et al. Haemophilia. 2012 Jan;18(1):e35-6. doi: 10.1111/j.1365-2516.2011.02684.x. Epub 2011 Nov 2. Haemophilia. 2012. PMID: 22044761 No abstract available.
Morbidity and mortality in ageing HIV-infected haemophilia patients.
Fransen van de Putte DE, Fischer K, Roosendaal G, Hoepelman AI, Mauser-Bunschoten EP. Fransen van de Putte DE, et al. Haemophilia. 2013 Jan;19(1):141-9. doi: 10.1111/j.1365-2516.2012.02912.x. Epub 2012 Jul 26. Haemophilia. 2013. PMID: 22830609
Increased prevalence of hypertension in haemophilia patients.
Fransen van de Putte DE, Fischer K, Makris M, Tait RC, Collins PW, Meijer K, Roosendaal G, Chowdary P, Schutgens RE, Mauser-Bunschoten EP. Fransen van de Putte DE, et al. Thromb Haemost. 2012 Oct;108(4):750-5. doi: 10.1160/TH12-05-0313. Epub 2012 Sep 5. Thromb Haemost. 2012. PMID: 22955860
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