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

Year Number of Results
1975 1
1976 4
1977 4
1978 1
1979 2
1981 2
1982 2
1983 2
1984 3
1985 1
1986 1
1987 1
1988 3
1989 1
1990 4
1991 2
1992 3
1993 7
1994 2
1995 2
1996 2
1997 2
1998 3
1999 1
2000 3
2001 3
2002 2
2005 2
2009 2
2010 1
2011 2
2012 6
2013 2
2014 2
2015 1
2016 2
2017 3
2018 2
2019 2
2020 1
2021 1
2022 2
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Search Results

89 results
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Page 1
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cortés FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hernández-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KBM, Eoli M, Martin Y, Wimmer K, De Luca A, Legius E, Messiaen LM. Koczkowska M, et al. Among authors: zonana j. Hum Mutat. 2020 Jan;41(1):299-315. doi: 10.1002/humu.23929. Epub 2019 Oct 26. Hum Mutat. 2020. PMID: 31595648 Free PMC article.
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Koczkowska M, Chen Y, Callens T, Gomes A, Sharp A, Johnson S, Hsiao MC, Chen Z, Balasubramanian M, Barnett CP, Becker TA, Ben-Shachar S, Bertola DR, Blakeley JO, Burkitt-Wright EMM, Callaway A, Crenshaw M, Cunha KS, Cunningham M, D'Agostino MD, Dahan K, De Luca A, Destrée A, Dhamija R, Eoli M, Evans DGR, Galvin-Parton P, George-Abraham JK, Gripp KW, Guevara-Campos J, Hanchard NA, Hernández-Chico C, Immken L, Janssens S, Jones KJ, Keena BA, Kochhar A, Liebelt J, Martir-Negron A, Mahoney MJ, Maystadt I, McDougall C, McEntagart M, Mendelsohn N, Miller DT, Mortier G, Morton J, Pappas J, Plotkin SR, Pond D, Rosenbaum K, Rubin K, Russell L, Rutledge LS, Saletti V, Schonberg R, Schreiber A, Seidel M, Siqveland E, Stockton DW, Trevisson E, Ullrich NJ, Upadhyaya M, van Minkelen R, Verhelst H, Wallace MR, Yap YS, Zackai E, Zonana J, Zurcher V, Claes K, Martin Y, Korf BR, Legius E, Messiaen LM. Koczkowska M, et al. Among authors: zonana j. Am J Hum Genet. 2018 Jan 4;102(1):69-87. doi: 10.1016/j.ajhg.2017.12.001. Epub 2017 Dec 28. Am J Hum Genet. 2018. PMID: 29290338 Free PMC article.
The neurobiology of postpartum depression.
Zonana J, Gorman JM. Zonana J, et al. CNS Spectr. 2005 Oct;10(10):792-9, 805. doi: 10.1017/s1092852900010312. CNS Spectr. 2005. PMID: 16400241 Review.
Genetic disorders of the thyroid.
Zonana J, Rimoin DL. Zonana J, et al. Med Clin North Am. 1975 Sep;59(5):1263-74. doi: 10.1016/s0025-7125(16)31973-3. Med Clin North Am. 1975. PMID: 240094 Review. No abstract available.
Searching for human epilepsy genes: a progress report.
Leppert M, McMahon WM, Quattlebaum TG, Bjerre I, Zonana J, Shevell MI, Andermann E, Rosales TO, Ronen GM, Connolly M, et al. Leppert M, et al. Among authors: zonana j. Brain Pathol. 1993 Oct;3(4):357-69. doi: 10.1111/j.1750-3639.1993.tb00764.x. Brain Pathol. 1993. PMID: 8293192 Review.
Macrocephaly with hamartomas: Bannayan-Zonana syndrome.
Miles JH, Zonana J, Mcfarlane J, Aleck KA, Bawle E. Miles JH, et al. Among authors: zonana j. Am J Med Genet. 1984 Oct;19(2):225-34. doi: 10.1002/ajmg.1320190204. Am J Med Genet. 1984. PMID: 6507473
Distal 19q duplication.
Zonana J, Brown MG, Magenis RE. Zonana J, et al. Hum Genet. 1982;60(3):267-70. doi: 10.1007/BF00303015. Hum Genet. 1982. PMID: 7106757
Dental abnormalities in Schimke immuno-osseous dysplasia.
Morimoto M, Kérourédan O, Gendronneau M, Shuen C, Baradaran-Heravi A, Asakura Y, Basiratnia M, Bogdanovic R, Bonneau D, Buck A, Charrow J, Cochat P, Dehaai KA, Fenkçi MS, Frange P, Fründ S, Fryssira H, Keller K, Kirmani S, Kobelka C, Kohler K, Lewis DB, Massella L, McLeod DR, Milford DV, Nobili F, Olney AH, Semerci CN, Stajic N, Stein A, Taque S, Zonana J, Lücke T, Hendson G, Bonnaure-Mallet M, Boerkoel CF. Morimoto M, et al. Among authors: zonana j. J Dent Res. 2012 Jul;91(7 Suppl):29S-37S. doi: 10.1177/0022034512450299. J Dent Res. 2012. PMID: 22699664 Free PMC article.
89 results