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Results: 1-11 |
Results: 11
Holoprosencephaly: The Maastricht experience
Authors: Moog, U De Die-Smulders, CEM Schrander-Stumpel, CTRM Engelen, JJM Hamers, AJH Frints, S Fryns, JP
Citation: U. Moog et al., Holoprosencephaly: The Maastricht experience, GEN COUNSEL, 12(3), 2001, pp. 287-298
Brief clinical report - De novo "pure" partial trisomy (6)(p22.1 -> pter) in a chromosome 15 with an enlarged satellite, identified by microdissection
Authors: Engelen, JJM Marcelis, CLM Alofs, MGP Loneus, WH Pulles-Heintzberger, CFM Hamers, AJH
Citation: Jjm. Engelen et al., Brief clinical report - De novo "pure" partial trisomy (6)(p22.1 -> pter) in a chromosome 15 with an enlarged satellite, identified by microdissection, AM J MED G, 99(1), 2001, pp. 48-53
De novo duplication (5)(q31.3q33.3): Report of a patient and characterization of the duplicated region using microdissection and FISH
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
14q terminal deletion: Prenatal diagnosis in a child with severe congenital anomalies
Authors: Mertens, DJLM De Die-Smulders, CEM Kampschoer, PHNM Offermans, JPM Engelen, JJM Hamers, AJH Lammens, M Schrander-Stumpel, CTRM
Citation: Djlm. Mertens et al., 14q terminal deletion: Prenatal diagnosis in a child with severe congenital anomalies, GEN COUNSEL, 11(4), 2000, pp. 341-346
Trisomy 7p: Report of 2 patients and literature review
Authors: Arens, YHJM Toutain, A Engelen, JJM Offermans, JPM Hamers, AJH Schrander, JJP Pulles-Heintzberger, CFM Schrander-Stumpel, CTRM
Citation: Yhjm. Arens et al., Trisomy 7p: Report of 2 patients and literature review, GEN COUNSEL, 11(4), 2000, pp. 347-354
De novo translocation (2;18)(q21;q22) in a child with severe epilepsy, developmental delay and mild dysmorphism
Authors: Bal, M Schrander-Stumpel, CTRM Meers, LEC Theunissen, PMVM Hamers, AJH Wennekes, MJ Engelen, JJM
Citation: M. Bal et al., De novo translocation (2;18)(q21;q22) in a child with severe epilepsy, developmental delay and mild dysmorphism, GEN COUNSEL, 11(3), 2000, pp. 221-227
Prenatally detected marker chromosome identified as an i(22)(p10) using (micro)FISH
Authors: Engelen, JJM Tuerlings, JHAM Albrechts, JCM Schrander-Stumpel, CTRM Hamers, AJH De Die-Smulders, CEM
Citation: Jjm. Engelen et al., Prenatally detected marker chromosome identified as an i(22)(p10) using (micro)FISH, GEN COUNSEL, 11(1), 2000, pp. 13-17
Complex chromosome 9, 20, and 22 rearrangements in acute lymphoblastic leukemia with duplication of BCR and ABL sequences
Authors: Stevens-Kroef, MJPL Dirckx, R Meers, LEC Albrechts, JCM Schouten, HC Hamers, AJH
Citation: Mjpl. Stevens-kroef et al., Complex chromosome 9, 20, and 22 rearrangements in acute lymphoblastic leukemia with duplication of BCR and ABL sequences, CANC GENET, 116(2), 2000, pp. 119-123
Mosaic telomeric (2;14) association in a child with motor delay
Authors: Engelen, JJM Marcelis, C Herbergs, J Weber, J Alofs, M Albrechts, JCM Hamers, AJH
Citation: Jjm. Engelen et al., Mosaic telomeric (2;14) association in a child with motor delay, AM J MED G, 92(5), 2000, pp. 318-321
Duplication of chromosome region 8p23.1 -> p23.3: A benign variant?
Authors: Engelen, JJM Moog, U Evers, JLH Dassen, H Albrechts, JCM Hamers, AJH
Citation: Jjm. Engelen et al., Duplication of chromosome region 8p23.1 -> p23.3: A benign variant?, AM J MED G, 91(1), 2000, pp. 18-21
Characterization of a partial trisomy 16q with fish - Report of a patient and review of the literature
Authors: Engelen, JJM De Die-Smulders, CEM Vos, PTH Meers, LEC Albrechts, JCM Hamers, AJH
Citation: Jjm. Engelen et al., Characterization of a partial trisomy 16q with fish - Report of a patient and review of the literature, ANN GENET, 42(2), 1999, pp. 101-104
Risultati: 1-11 |