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

Year Number of Results
1978 1
1981 2
1982 2
1984 1
1985 1
1987 1
1988 3
1989 2
1990 5
1991 1
1992 10
1993 5
1994 9
1995 9
1996 16
1997 4
1998 9
1999 15
2000 11
2001 7
2002 13
2003 4
2004 10
2005 9
2006 9
2007 7
2008 5
2009 13
2010 7
2011 9
2012 12
2013 5
2014 4
2015 1
2017 2
2018 1
2019 4
2020 3
2022 0
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Search Results

217 results
Results by year
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Page 1
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean J, De Laet C, De Praeter C, Dery C, Ferrie CD, Flintoff K, Frints SG, Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BC, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EG, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, Sinha GP, Soler D, Spiegel R, Stephenson JB, Tacke U, Tan TY, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, Van Coster RN, Van der Aa N, Vanderver A, Vles JS, Voit T, Wassmer E, Weschke B, Whiteford ML, Willemsen MA, Zankl A, Zuberi SM, Orcesi S, Fazzi E, Lebon P, Crow YJ. Rice G, et al. Among authors: hamel bc. Am J Hum Genet. 2007 Oct;81(4):713-25. doi: 10.1086/521373. Epub 2007 Sep 4. Am J Hum Genet. 2007. PMID: 17846997 Free PMC article.
Oculocerebrocutaneous syndrome.
Bleeker-Wagemakers LM, Hamel BC, Hennekam RC, Beemer FA, Oorthuys HW. Bleeker-Wagemakers LM, et al. Among authors: hamel bc. J Med Genet. 1990 Jan;27(1):69-70. doi: 10.1136/jmg.27.1.69. J Med Genet. 1990. PMID: 2407849 Free PMC article. Review. No abstract available.
X-linked mental retardation.
Ropers HH, Hamel BC. Ropers HH, et al. Among authors: hamel bc. Nat Rev Genet. 2005 Jan;6(1):46-57. doi: 10.1038/nrg1501. Nat Rev Genet. 2005. PMID: 15630421 Review.
Ehlers-Danlos syndrome.
Hamel BC. Hamel BC. Neth J Med. 2004 May;62(5):140-2. Neth J Med. 2004. PMID: 15366695 Free article. No abstract available.
Craniofrontonasal dysplasia.
Kapusta L, Brunner HG, Hamel BC. Kapusta L, et al. Among authors: hamel bc. Eur J Pediatr. 1992 Nov;151(11):837-41. doi: 10.1007/BF01957936. Eur J Pediatr. 1992. PMID: 1468459
Acrocallosal syndrome.
Hendriks HJ, Brunner HG, Haagen TA, Hamel BC. Hendriks HJ, et al. Among authors: hamel bc. Am J Med Genet. 1990 Mar;35(3):443-6. doi: 10.1002/ajmg.1320350325. Am J Med Genet. 1990. PMID: 2309796
Syndromic XLMR genes (MRXS): update 2000.
Hamel BC, Chiurazzi P, Lubs HA. Hamel BC, et al. Am J Med Genet. 2000 Oct 23;94(5):361-3. doi: 10.1002/1096-8628(20001023)94:5<361::aid-ajmg2>3.0.co;2-u. Am J Med Genet. 2000. PMID: 11050617 Review. No abstract available.
Two cases of Prune Belly Syndrome from Kagera Region Tanzania.
Kessy JP, Philemon RN, Hamel BC. Kessy JP, et al. Among authors: hamel bc. East Afr Health Res J. 2020;4(1):20-25. doi: 10.24248/eahrj.v4i1.630. Epub 2020 Jun 26. East Afr Health Res J. 2020. PMID: 34308216 Free PMC article.
[Polydactyly].
Nicolai JP, Hamel BC, Menalda GA. Nicolai JP, et al. Among authors: hamel bc. Ned Tijdschr Geneeskd. 1990 Jan 27;134(4):157-9. Ned Tijdschr Geneeskd. 1990. PMID: 2304571 Dutch. No abstract available.
Ellis-van Creveld syndrome in a patient from Tanzania.
Dekker MCJ, Sadiq AM, Jusabani MA, Mdavire VJ, Baas F, Morton DH, Hamel BCJ. Dekker MCJ, et al. Among authors: hamel bcj. Am J Med Genet A. 2019 Oct;179(10):2034-2038. doi: 10.1002/ajmg.a.61309. Epub 2019 Jul 26. Am J Med Genet A. 2019. PMID: 31350806
217 results