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Dysmorphic sDownload PDF containing detailed information.
Recent Publications on Dysmorphic s: |  |
[Balanced chromosomal rearrangements resulting in intellectual disability. An analysis of 22 cases with application of CGH and FISH methods]
INTRODUCTION: In approximately 6% of balanced chromosomal rearrangements... | 18th November, 2009
| Zaklad Genetyki Medycznej, Instytut Matki i Dziecka, ul. Kasprzaka 17a,
| Med Wieku Rozwoj. 2009 Apr-Jun;13(2):81-93.
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"Bleb window"-pexy for the management of symptomatic, oversized blebs.
PURPOSE: To describe a simple method and outcomes of remodeling... | 13th November, 2009
| Department of Ophthalmology and Visual Science, Robert Cizik Eye Clinic,
| J Glaucoma. 2009 Sep;18(7):546-51.
DOI Direct Link |
Characterization of a 5.8-Mb interstitial deletion of chromosome 3p in a girl with 46,XX,inv(7)dn karyotype and phenotypic abnormalities.
Interstitial deletions of the short arm of chromosome 3 are rare, and a... | 10th November, 2009
| Servei de Bioquimica i Genetica Molecular, Hospital Clinic, Barcelona,
| Cytogenet Genome Res. 2009;125(4):334-40. Epub 2009 Oct 27.
DOI Direct Link |
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.
BACKGROUND: Loeys-Dietz syndrome (LDS) is a rare autosomal dominant... | 4th November, 2009
| Division of Biology and Genetics, Department of Biomedical Sciences and
| Orphanet J Rare Dis. 2009 Nov 2;4:24.
DOI Direct Link |
Detailed molecular and clinical characterization of three patients with 21q deletions.
Lindstrand A, Malmgren H, Sahlen S, Schoumans J, Nordgren A, Ergander U,... | 30th October, 2009
| Department of Molecular Medicine and Surgery, Clinical Genetics Unit,
| Clin Genet. 2009 Oct 23.
DOI Direct Link |
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Wikipedia excerpt, where present, licenced under the GNU Free Documentation License. Resources from the NCBI applied. Selected MeSH subject headings created and maintained by the US NLM are used in conjunction with additional keywords. 2006-2008 MeSH.
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