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

Year Number of Results
1993 4
1994 3
1995 2
1996 1
1997 1
2002 1
2003 1
2011 1
2019 1
2020 1
2021 1
2022 0
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16 results
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Page 1
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
Hoogeveen-Westerveld M, Wentink M, van den Heuvel D, Mozaffari M, Ekong R, Povey S, den Dunnen JT, Metcalfe K, Vallee S, Krueger S, Bergoffen J, Shashi V, Elmslie F, Kwiatkowski D, Sampson J, Vidales C, Dzarir J, Garcia-Planells J, Dies K, Maat-Kievit A, van den Ouweland A, Halley D, Nellist M. Hoogeveen-Westerveld M, et al. Among authors: bergoffen j. Hum Mutat. 2011 Apr;32(4):424-35. doi: 10.1002/humu.21451. Epub 2011 Mar 8. Hum Mutat. 2011. PMID: 21309039
Familial autoimmune myasthenia gravis.
Bergoffen J, Zmijewski CM, Fischbeck KH. Bergoffen J, et al. Neurology. 1994 Mar;44(3 Pt 1):551-4. doi: 10.1212/wnl.44.3_part_1.551. Neurology. 1994. PMID: 7908425
Comparison of Universal Versus Age-Restricted Screening of Colorectal Tumors for Lynch Syndrome Using Mismatch Repair Immunohistochemistry: A Cohort Study.
Li D, Hoodfar E, Jiang SF, Udaltsova N, Pham NP, Jodesty Y, Armstrong MA, Hung YY, Baker RJ, Postlethwaite D, Ladabaum U, Levin TR, Corley DA, Bergoffen J. Li D, et al. Among authors: bergoffen j. Ann Intern Med. 2019 Jul 2;171(1):19-26. doi: 10.7326/M18-3316. Epub 2019 Jun 11. Ann Intern Med. 2019. PMID: 31181578
Connexin mutations in X-linked Charcot-Marie-Tooth disease.
Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DL, Chen K, Lensch MW, Chance PF, Fischbeck KH. Bergoffen J, et al. Science. 1993 Dec 24;262(5142):2039-42. doi: 10.1126/science.8266101. Science. 1993. PMID: 8266101
Paternal transmission of congenital myotonic dystrophy.
Bergoffen J, Kant J, Sladky J, McDonald-McGinn D, Zackai EH, Fischbeck KH. Bergoffen J, et al. J Med Genet. 1994 Jul;31(7):518-20. doi: 10.1136/jmg.31.7.518. J Med Genet. 1994. PMID: 7966187 Free PMC article.
Diaphragmatic hernia in tetrasomy 12p mosaicism.
Bergoffen J, Punnett H, Campbell TJ, Ross AJ 3rd, Ruchelli E, Zackai EH. Bergoffen J, et al. J Pediatr. 1993 Apr;122(4):603-6. doi: 10.1016/s0022-3476(05)83546-2. J Pediatr. 1993. PMID: 8463911
16 results