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Year | Number of Results |
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2013 | 3 |
2014 | 1 |
2024 | 0 |
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Page 1
SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.
Am J Hum Genet. 2013 Nov 7;93(5):798-811. doi: 10.1016/j.ajhg.2013.09.010. Epub 2013 Oct 17.
Am J Hum Genet. 2013.
PMID: 24140112
Free PMC article.
A novel deletion of IGF1 in a patient with idiopathic short stature provides insight Into IGF1 haploinsufficiency.
Batey L, Moon JE, Yu Y, Wu B, Hirschhorn JN, Shen Y, Dauber A.
Batey L, et al.
J Clin Endocrinol Metab. 2014 Jan;99(1):E153-9. doi: 10.1210/jc.2013-3106. Epub 2013 Dec 20.
J Clin Endocrinol Metab. 2014.
PMID: 24243634
Free PMC article.
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The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.
Nikkel SM, Dauber A, de Munnik S, Connolly M, Hood RL, Caluseriu O, Hurst J, Kini U, Nowaczyk MJ, Afenjar A, Albrecht B, Allanson JE, Balestri P, Ben-Omran T, Brancati F, Cordeiro I, da Cunha BS, Delaney LA, Destrée A, Fitzpatrick D, Forzano F, Ghali N, Gillies G, Harwood K, Hendriks YM, Héron D, Hoischen A, Honey EM, Hoefsloot LH, Ibrahim J, Jacob CM, Kant SG, Kim CA, Kirk EP, Knoers NV, Lacombe D, Lee C, Lo IF, Lucas LS, Mari F, Mericq V, Moilanen JS, Møller ST, Moortgat S, Pilz DT, Pope K, Price S, Renieri A, Sá J, Schoots J, Silveira EL, Simon ME, Slavotinek A, Temple IK, van der Burgt I, de Vries BB, Weisfeld-Adams JD, Whiteford ML, Wierczorek D, Wit JM, Yee CF, Beaulieu CL; FORGE Canada Consortium; White SM, Bulman DE, Bongers E, Brunner H, Feingold M, Boycott KM.
Nikkel SM, et al.
Orphanet J Rare Dis. 2013 Apr 27;8:63. doi: 10.1186/1750-1172-8-63.
Orphanet J Rare Dis. 2013.
PMID: 23621943
Free PMC article.
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