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Items: 5

1.

A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation.

Babbs C, Heller R, Everman DB, Crocker M, Twigg SR, Schwartz CE, Giele H, Wilkie AO.

Hum Genet. 2007 Sep;122(2):191-9. Epub 2007 Jun 14.

PMID:
17569090
2.

Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH).

Witters I, Devriendt K, Legius E, Matthijs G, Van Schoubroeck D, Van Assche FA, Fryns JP.

Prenat Diagn. 2002 Jan;22(1):29-33.

PMID:
11810646
3.

Holoprosencephaly, hypertelorism, and ectrodactyly in a boy with an apparently balanced de novo t(2;4) (q14.2;q35).

Corona-Rivera A, Corona-Rivera JR, Bobadilla-Morales L, GarcĂ­a-Cobian TA, Corona-Rivera E.

Am J Med Genet. 2000 Feb 28;90(5):423-6.

PMID:
10706364
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