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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1993 | 1 |
2008 | 1 |
2010 | 2 |
2011 | 1 |
2024 | 0 |
PubMed for id: 462240
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Page 1
Giuffrè-Tsukahara syndrome: Evidence for X-linked dominant inheritance and review.
Am J Med Genet A. 2010 Aug;152A(8):2057-60. doi: 10.1002/ajmg.a.33505.
Am J Med Genet A. 2010.
PMID: 20635354
Review.
A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis.
Utine GE, Breckpot J, Thienpont B, Alanay Y, Aksoy C, Boduroğlu K, Devriendt K.
Utine GE, et al.
Am J Med Genet A. 2010 Apr;152A(4):947-9. doi: 10.1002/ajmg.a.33325.
Am J Med Genet A. 2010.
PMID: 20358606
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Clinical delineation of Giuffrè-Tsukahara syndrome: another case with microcephaly and radio-ulnar synostosis with apparent X-linked semi-dominant inheritance.
Gaspar H, Albermann K, Baumer A, Schinzel A.
Gaspar H, et al.
Am J Med Genet A. 2008 Jun 1;146A(11):1453-7. doi: 10.1002/ajmg.a.32314.
Am J Med Genet A. 2008.
PMID: 18449925
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How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
Ravel A, Chouery E, Stora S, Jalkh N, Villard L, Temtamy S, Mégarbané A.
Ravel A, et al.
Am J Med Genet A. 2011 Apr;155A(4):880-4. doi: 10.1002/ajmg.a.33879. Epub 2011 Mar 17.
Am J Med Genet A. 2011.
PMID: 21416592
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An additional case of pachygyria, joint contractures and facial abnormalities.
Levin ML, Lupski JR, Carpenter RJ Jr, Gerson LP, Greenberg F.
Levin ML, et al.
Clin Dysmorphol. 1993 Oct;2(4):365-8.
Clin Dysmorphol. 1993.
PMID: 8305968
Review.
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