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

Year Number of Results
1987 1
1988 1
1989 3
1990 1
1991 1
1992 1
2003 1
2004 2
2005 4
2006 1
2008 1
2009 2
2011 1
2013 1
2014 1
2017 1
2024 0

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21 results

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Page 1
SEMA3E mutation in a patient with CHARGE syndrome.
Lalani SR, Safiullah AM, Molinari LM, Fernbach SD, Martin DM, Belmont JW. Lalani SR, et al. Among authors: fernbach sd. J Med Genet. 2004 Jul;41(7):e94. doi: 10.1136/jmg.2003.017640. J Med Genet. 2004. PMID: 15235037 Free PMC article. No abstract available.
MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.
Lalani SR, Ware SM, Wang X, Zapata G, Tian Q, Franco LM, Jiang Z, Bucasas K, Scott DA, Campeau PM, Hanchard N, Umaña L, Cast A, Patel A, Cheung SW, McBride KL, Bray M, Craig Chinault A, Boggs BA, Huang M, Baker MR, Hamilton S, Towbin J, Jefferies JL, Fernbach SD, Potocki L, Belmont JW. Lalani SR, et al. Among authors: fernbach sd. Hum Mol Genet. 2013 Nov 1;22(21):4339-48. doi: 10.1093/hmg/ddt283. Epub 2013 Jun 16. Hum Mol Genet. 2013. PMID: 23773997 Free PMC article.
An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.
Patel RM, Liu D, Gonzaga-Jauregui C, Jhangiani S, Lu JT, Sutton VR, Fernbach SD, Azamian M, White L, Edmond JC, Paysse EA, Belmont JW, Muzny D, Lupski JR, Gibbs RA, Lewis RA, Lee BH, Lalani SR, Campeau PM. Patel RM, et al. Among authors: fernbach sd. Cold Spring Harb Mol Case Stud. 2017 Mar;3(2):a000984. doi: 10.1101/mcs.a000984. Cold Spring Harb Mol Case Stud. 2017. PMID: 28299356 Free PMC article.
SNP genotyping to screen for a common deletion in CHARGE syndrome.
Lalani SR, Safiullah AM, Fernbach SD, Phillips M, Bacino CA, Molinari LM, Glass NL, Towbin JA, Craigen WJ, Belmont JW. Lalani SR, et al. Among authors: fernbach sd. BMC Med Genet. 2005 Feb 14;6:8. doi: 10.1186/1471-2350-6-8. BMC Med Genet. 2005. PMID: 15710038 Free PMC article.
21 results