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
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