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Influence of the MTHFR genotype on the rate of malformations following exposure to antiepileptic drugs in utero.
Kini U, Lee R, Jones A, Smith S, Ramsden S, Fryer A, Clayton-Smith J; Liverpool Manchester Neurodevelopmental Study Group. Kini U, et al. Eur J Med Genet. 2007 Nov-Dec;50(6):411-20. doi: 10.1016/j.ejmg.2007.08.002. Epub 2007 Sep 11. Eur J Med Genet. 2007. PMID: 17951123 Clinical Trial.
Dysmorphic features: an important clue to the diagnosis and severity of fetal anticonvulsant syndromes.
Kini U, Adab N, Vinten J, Fryer A, Clayton-Smith J; Liverpool and Manchester Neurodevelopmental Study Group. Kini U, et al. Arch Dis Child Fetal Neonatal Ed. 2006 Mar;91(2):F90-5. doi: 10.1136/adc.2004.067421. Epub 2005 Oct 20. Arch Dis Child Fetal Neonatal Ed. 2006. PMID: 16239295 Free PMC article. Clinical Trial.
The longer term outcome of children born to mothers with epilepsy.
Adab N, Kini U, Vinten J, Ayres J, Baker G, Clayton-Smith J, Coyle H, Fryer A, Gorry J, Gregg J, Mawer G, Nicolaides P, Pickering L, Tunnicliffe L, Chadwick DW. Adab N, et al. J Neurol Neurosurg Psychiatry. 2004 Nov;75(11):1575-83. doi: 10.1136/jnnp.2003.029132. J Neurol Neurosurg Psychiatry. 2004. PMID: 15491979 Free PMC article.
Neuropsychological effects of exposure to anticonvulsant medication in utero.
Vinten J, Adab N, Kini U, Gorry J, Gregg J, Baker GA; Liverpool and Manchester Neurodevelopment Study Group. Vinten J, et al. Neurology. 2005 Mar 22;64(6):949-54. doi: 10.1212/01.WNL.0000154514.82948.69. Neurology. 2005. PMID: 15781806
Pregnancy with epilepsy: obstetric and neonatal outcome of a controlled study.
Mawer G, Briggs M, Baker GA, Bromley R, Coyle H, Eatock J, Kerr L, Kini U, Kuzmyshcheva L, Lucas SB, Wyatt L, Clayton-Smith J; Liverpool & Manchester Neurodevelopment Group. Mawer G, et al. Seizure. 2010 Mar;19(2):112-9. doi: 10.1016/j.seizure.2009.11.008. Epub 2009 Dec 24. Seizure. 2010. PMID: 20036166 Free PMC article.
Familial isolated congenital asplenia: case report and literature review.
Ahmed SA, Zengeya S, Kini U, Pollard AJ. Ahmed SA, et al. Eur J Pediatr. 2010 Mar;169(3):315-8. doi: 10.1007/s00431-009-1030-0. Epub 2009 Jul 19. Eur J Pediatr. 2010. PMID: 19618213 Review.
The face of Ulnar Mammary syndrome?
Joss S, Kini U, Fisher R, Mundlos S, Prescott K, Newbury-Ecob R, Tolmie J. Joss S, et al. Eur J Med Genet. 2011 May-Jun;54(3):301-5. doi: 10.1016/j.ejmg.2010.12.010. Epub 2011 Jan 1. Eur J Med Genet. 2011. PMID: 21199695
Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.
Pagnamenta AT, Murakami Y, Taylor JM, Anzilotti C, Howard MF, Miller V, Johnson DS, Tadros S, Mansour S, Temple IK, Firth R, Rosser E, Harrison RE, Kerr B, Popitsch N; DDD Study, Kinoshita T, Taylor JC, Kini U. Pagnamenta AT, et al. Eur J Hum Genet. 2017 Jun;25(6):669-679. doi: 10.1038/ejhg.2017.32. Epub 2017 Mar 22. Eur J Hum Genet. 2017. PMID: 28327575 Free PMC article.
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
Kharbanda M, Pilz DT, Tomkins S, Chandler K, Saggar A, Fryer A, McKay V, Louro P, Smith JC, Burn J, Kini U, De Burca A, FitzPatrick DR, Kinning E; DDD Study. Kharbanda M, et al. Eur J Med Genet. 2017 Feb;60(2):130-135. doi: 10.1016/j.ejmg.2016.11.008. Epub 2016 Nov 30. Eur J Med Genet. 2017. PMID: 27915094 Free PMC article.
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