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Items: 6

1.

Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1.

Krepischi-Santos AC, Rajan D, Temple IK, Shrubb V, Crolla JA, Huang S, Beal S, Otto PA, Carter NP, Vianna-Morgante AM, Rosenberg C.

Cytogenet Genome Res. 2009;125(1):1-7. doi: 10.1159/000218743. Epub 2009 Jul 14.

2.

Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14.

Temple IK, Shrubb V, Lever M, Bullman H, Mackay DJ.

BMJ Case Rep. 2009;2009. pii: bcr06.2009.1997. doi: 10.1136/bcr.06.2009.1997. Epub 2009 Jul 1.

3.

Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14.

Temple IK, Shrubb V, Lever M, Bullman H, Mackay DJ.

J Med Genet. 2007 Oct;44(10):637-40. Epub 2007 Jun 29.

4.

Opinion statement on the minimal acceptable standards of healthcare in cerebral palsy.

Bakheit AM, Bower E, Cosgrove A, Fox M, Morton R, Phillips S, Scrutton D, Shrubb V, Yude C.

Disabil Rehabil. 2001 Sep 10;23(13):578-82.

PMID:
11451192
5.
6.

XY Sex-reversed campomelia.

Trompeter RS, Shrubb V, Heaton JM, Berry AC.

Eur J Pediatr. 1981 Sep;137(1):59-61. No abstract available.

PMID:
7274302

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