| Dan B
Angelman syndrome: current understanding and research prospects. [Journal Article, Research Support, Non-U.S. Gov't, Review]
Epilepsia 2009 Nov; 50(11):2331-9.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Morris JK, Alberman E
Trends in Down's syndrome live births and antenatal diagnoses in England and Wales from 1989 to 2008: analysis of data from the National Down Syndrome Cytogenetic Register. [Journal Article, Research Support, Non-U.S. Gov't]
BMJ 2009.:b3794.
Abstract | Full Citation | Find Related Articles | | Su PH, Chen JY, Lee IC, et al.
Pfeiffer-like syndrome with holoprosencephaly: a newborn with maternal smoking and alcohol exposure. [Journal Article]
Pediatr Neonatol 2009 Oct; 50(5):234-8.
Abstract | Full Citation | Find Related Articles | | Yildirim MS, Artac H, Reisli I
Down syndrome associated with severe combined immunodeficiency: a case report. [Journal Article]
Genet Couns 2009; 20(3):269-73.
Abstract | Full Citation | Find Related Articles | | Qaksen H, Bartsch O, Okur M, et al.
Rubinstein-Taybi syndrome and CREBBP c.201 202delTA mutation: a case presenting with varicella meningoencephalitis. [Journal Article]
Genet Couns 2009; 20(3):255-60.
Abstract | Full Citation | Find Related Articles | | Akbas E, Soylemez F, Hallioglu O, et al.
Analysis of the SRY gene in a girl with 45,X/46,XY genotype. [Journal Article]
Genet Couns 2009; 20(3):249-54.
Abstract | Full Citation | Find Related Articles | | Demirhan O, Pazarbaşi A, Tanriverdi N, et al.
The clinical effects of isochromosome Xq in Klinefelter syndrome: report of a case and review of literature. [Journal Article]
Genet Couns 2009; 20(3):235-42.
Abstract | Full Citation | Find Related Articles | | Biselli JM, Machado FB, Zampieri BL, et al.
Double aneuploidy (48,XXY,+21) of maternal origin in a child born to a 13-year-old mother: evaluation of the maternal folate metabolism. [Journal Article, Research Support, Non-U.S. Gov't]
Genet Couns 2009; 20(3):225-34.
Abstract | Full Citation | Find Related Articles | | Qureshi MA, Mouzaki M, Le T
Diagnosis of small bowel telangiectasia in Turner's syndrome using capsule endoscopy. [Journal Article]
J Pediatr Endocrinol Metab 2009 Aug; 22(8):759-62.
Full Citation | Find Related Articles | | Szpecht-Potocka A, Gos M, Struniawski R, et al.
[Angelman syndrome - the research model of epigenetic mechanisms expression genes regulation.] [JOURNAL ARTICLE]
Med Wieku Rozwoj 2009; XIII(2):123-130.
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