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Results: 1-6 |
Results: 6

Authors: de Die-Smulders, CEM Moog, U Engelen, JJM Peters, JJM Damen, A Vos, W Fryns, JP
Citation: Cem. De Die-smulders et al., Lateral facial clefts: A case report, GEN COUNSEL, 12(2), 2001, pp. 163-165

Authors: Sanchez-Gareia, JF de Die-Smulders, CEM Weber, JW Jetten, AGP Loneus, WH Hamers, AJH Engelen, JJM
Citation: Jf. Sanchez-gareia et al., De novo duplication (5)(q31.3q33.3): Report of a patient and characterization of the duplicated region using microdissection and FISH, AM J MED G, 100(1), 2001, pp. 56-61

Authors: Moog, U Engelen, JJM Albrechts, JCM Baars, LGM de Die-Smulders, CEM
Citation: U. Moog et al., Familial dup(8)(p12p21.1): Mild phenotypic effect and review of partial 8pduplications, AM J MED G, 94(4), 2000, pp. 306-310

Authors: Moog, U de Die-Smulders, CEM Scheffer, H van der Vlies, P Henquet, CJM Jonkman, MF
Citation: U. Moog et al., Epidermolysis bullosa simplex with mottled pigmentation: Clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients, AM J MED G, 86(4), 1999, pp. 376-379

Authors: de Die-Smulders, CEM Engelen, JJM Albrechts, JCM Hamers, GJH
Citation: Cem. De Die-smulders et al., Detection of a cryptic translocation t(13;20)(q34;p13) in an unexplained case of MCA/MR: Value of FISH over high resolution banding, AM J MED G, 86(4), 1999, pp. 385-388

Authors: Janssen, HCJP Schaap, C Vandevijver, N Moerman, P de Die-Smulders, CEM Fryns, JP
Citation: Hcjp. Janssen et al., Two sibs with microcephaly, hygroma colli, renal dysplasia, and cutaneous syndactyly: a new lethal MCA syndrome?, J MED GENET, 36(6), 1999, pp. 481-484
Risultati: 1-6 |