학술논문
'학술논문'
에서 검색결과 109건 | 목록
1~10
Academic Journal
In European Journal of Medical Genetics October 2017 60(10):527-532
Ellingford, Jamie M. ; Telford, Nick ; Urquhart, Jill; Will, Andrew M; Bonney, Denise; Adams, Ben; Dixon, Rachel; Kerr, Bronwyn; Black, Graeme CM; Wynn, Robert F; Meyer, Stefan
In Cancer Genetics August 2021 256-257:77-80
Expanding the genetic and phenotypic spectrum of branched‐chain amino acid transferase 2 deficiency.
Academic Journal
Knerr, Ina; Colombo, Roberto; Urquhart, Jill; Morais, Ana; Merinero, Begona; Oyarzabal, Alfonso; Pérez, Belén; Jones, Simon A.; Perveen, Rahat; Preece, Mary A.; Rogers, Yvonne; Treacy, Eileen P.; Mayne, Philip; Zampino, Giuseppe; MacKinnon, Sabrina; Wassmer, Evangeline; Yue, Wyatt W.; Robinson, Ian; Rodríguez‐Pombo, Pilar; Olpin, Simon E.
Journal of Inherited Metabolic Disease; Sep2019, Vol. 42 Issue 5, p809-817, 9p
Academic Journal
Briggs, Tracy A.; Rice, Gillian I.; Daly, Sarah; Urquhart, Jill; Gornall, Hannah; Bader-Meunier, Brigitte; Baskar, Kannan; Baskar, Shankar; Baudouin, Veronique; Beresford, Michael W.; Black, Graeme C. M.; Dearman, Rebecca J.; de Zegher, Francis; Foster, Emily S.; Francès, Camille; Hayman, Alison R.; Hilton, Emma; Job-Deslandre, Chantal; Kulkarni, Muralidhar L.; Le Merrer, Martine
Academic Journal
Whibley, Annabel; Urquhart, Jill; Dore, Jonathan; Willatt, Lionel; Parkin, Georgina; Gaunt, Lorraine; Black, Graeme; Donnai, Dian; Raymond, F. Lucy
Academic Journal
Academic Journal
Spiegel, Ronen; Cliffe, Simon T.; Buckley, Michael F.; Crow, Yanick J.; Urquhart, Jill; Horovitz, Yoseph; Tenenbaum-Rakover, Yardena; Newman, William G.; Donnai, Dian; Shalev, Stavit A.
In European Journal of Medical Genetics 2010 53(5):309-313
Academic Journal
In European Journal of Medical Genetics 2009 52(6):454-457
Academic Journal
Clinical Dysmorphology; Apr2019, Vol. 28 Issue 2, p66-70, 5p
Academic Journal
Michaelides, Michel; Urquhart, Jill; Holder, Graham E.; Restori, Marie; Kayali, Nuha; Manson, Forbes D.C.; Black, Graeme C.M.
In American Journal of Ophthalmology 2006 141(2):418-420
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[AR] Urquhart, Jill
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