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Page 1
Asymmetry and skin pigmentary anomalies in chromosome mosaicism.
Woods CG, Bankier A, Curry J, Sheffield LJ, Slaney SF, Smith K, Voullaire L, Wellesley D. Woods CG, et al. Among authors: wellesley d. J Med Genet. 1994 Sep;31(9):694-701. doi: 10.1136/jmg.31.9.694. J Med Genet. 1994. PMID: 7815438 Free PMC article.
Prevalence of congenital heart defects in Europe, 2008-2015: A registry-based study.
Mamasoula C, Addor MC, Carbonell CC, Dias CM, Echevarría-González-de-Garibay LJ, Gatt M, Khoshnood B, Klungsoyr K, Randall K, Stoianova S, Haeusler M, Nelen V, Neville AJ, Perthus I, Pierini A, Bertaut-Nativel B, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Zymak-Zakutnia N, Barisic I, de Walle HEK, Lanzoni M, Mullaney C, Pennington L, Rankin J. Mamasoula C, et al. Among authors: wellesley d. Birth Defects Res. 2022 Dec 1;114(20):1404-1416. doi: 10.1002/bdr2.2117. Epub 2022 Nov 8. Birth Defects Res. 2022. PMID: 36345679 Free PMC article.
Prevalence of vascular disruption anomalies and association with young maternal age: A EUROCAT study to compare the United Kingdom with other European countries.
Morris JK, Wellesley D, Limb E, Bergman JEH, Kinsner-Ovaskainen A, Addor MC, Broughan JM, Cavero-Carbonell C, Dias CM, Echevarría-González-de-Garibay LJ, Gatt M, Haeusler M, Barisic I, Klungsoyr K, Lelong N, Materna-Kiryluk A, Neville A, Nelen V, O'Mahony MT, Perthus I, Pierini A, Rankin J, Rissmann A, Rouget F, Sayers G, Stevens S, Tucker D, Garne E. Morris JK, et al. Among authors: wellesley d. Birth Defects Res. 2022 Dec 1;114(20):1417-1426. doi: 10.1002/bdr2.2122. Epub 2022 Nov 11. Birth Defects Res. 2022. PMID: 36369770 Free PMC article.
MURCS in a male?
Wellesley DG, Slaney SF. Wellesley DG, et al. J Med Genet. 1995 Apr;32(4):314-5. doi: 10.1136/jmg.32.4.314. J Med Genet. 1995. PMID: 7643366 Free PMC article.
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
154 results