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Results by year

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

Year Number of Results
1966 1
1968 3
1969 1
1970 1
1971 1
1972 1
1974 2
1977 1
1978 2
1979 1
1980 1
1981 3
1982 5
1983 1
1987 1
1989 1
1993 1
1998 1
2000 4
2001 4
2002 6
2004 4
2005 1
2006 4
2007 3
2008 2
2009 3
2010 4
2011 4
2012 6
2013 12
2014 3
2015 3
2016 5
2017 8
2018 12
2019 7
2020 4
2021 7
2022 4
2023 1

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Article type

Publication date

Search Results

132 results

Results by year

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Page 1
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR. Platzer K, et al. Among authors: franz dn. J Med Genet. 2017 Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509. Epub 2017 Apr 4. J Med Genet. 2017. PMID: 28377535 Free PMC article.
Tremor in childhood.
Franz DN. Franz DN. Pediatr Ann. 1993 Jan;22(1):60-4. doi: 10.3928/0090-4481-19930101-10. Pediatr Ann. 1993. PMID: 8094242 Review. No abstract available.
Thoracoabdominal imaging of tuberous sclerosis.
Morin CE, Morin NP, Franz DN, Krueger DA, Trout AT, Towbin AJ. Morin CE, et al. Among authors: franz dn. Pediatr Radiol. 2018 Aug;48(9):1307-1323. doi: 10.1007/s00247-018-4123-y. Epub 2018 Aug 4. Pediatr Radiol. 2018. PMID: 30078036 Review.
Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study.
French JA, Lawson JA, Yapici Z, Ikeda H, Polster T, Nabbout R, Curatolo P, de Vries PJ, Dlugos DJ, Berkowitz N, Voi M, Peyrard S, Pelov D, Franz DN. French JA, et al. Among authors: franz dn. Lancet. 2016 Oct 29;388(10056):2153-2163. doi: 10.1016/S0140-6736(16)31419-2. Epub 2016 Sep 6. Lancet. 2016. PMID: 27613521 Free article. Clinical Trial.
Changing the outcome in genetic brain disorders.
Franz DN. Franz DN. Dev Med Child Neurol. 2022 Oct;64(10):1184-1185. doi: 10.1111/dmcn.15350. Epub 2022 Jul 22. Dev Med Child Neurol. 2022. PMID: 35866540 Free PMC article.
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.
Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, Choy YS, Reeve MP, Thiele E, Egelhoff JC, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski DJ. Dabora SL, et al. Among authors: franz dn. Am J Hum Genet. 2001 Jan;68(1):64-80. doi: 10.1086/316951. Epub 2000 Dec 8. Am J Hum Genet. 2001. PMID: 11112665 Free PMC article.
Reply: To PMID 23798472.
Krueger D, Wilfong A, Franz DN. Krueger D, et al. Among authors: franz dn. Ann Neurol. 2014 Jan;75(1):164-5. doi: 10.1002/ana.24046. Epub 2014 Jan 2. Ann Neurol. 2014. PMID: 24243553 No abstract available.
132 results