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Results: 1-7 |
Results: 7
Deletions at chromosome regions 7q11.23 and 7q36 in a patient with Williams syndrome
Authors: Wouters, CH Meijers-Heijboer, HJ Eussen, BJFMM van der Heide, AA van Luijk, RB van Drunen, E Beverloo, BB Visscher, F Van Hemel, JO
Citation: Ch. Wouters et al., Deletions at chromosome regions 7q11.23 and 7q36 in a patient with Williams syndrome, AM J MED G, 102(3), 2001, pp. 261-265
Etiological studies of severe or familial hypospadias
Authors: Boehmer, ALM Nijman, RJM Lammers, BAS De Coninck, SJF Van Hemel, JO Themmen, APN Mureau, MAM De Jong, FH Brinkmann, AO Niermeijer, MF Drop, SLS
Citation: Alm. Boehmer et al., Etiological studies of severe or familial hypospadias, J UROL, 165(4), 2001, pp. 1246-1254
Interchromosomal insertions - Identification of five cases and a review
Authors: Van Hemel, JO Eussen, HJ
Citation: Jo. Van Hemel et Hj. Eussen, Interchromosomal insertions - Identification of five cases and a review, HUM GENET, 107(5), 2000, pp. 415-432
An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito
Authors: Eussen, BHJ Bartalini, G Bakker, L Balestri, P Di Lucca, C Van Hemel, JO Dauwerse, H van den Ouweland, AMW Ris-Stalpers, C Verhoef, S Halley, DJJ Fois, A
Citation: Bhj. Eussen et al., An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito, J MED GENET, 37(4), 2000, pp. 287-291
Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere
Authors: Warburton, PE Dolled, M Mahmood, R Alonso, A Li, SL Naritomi, K Tohma, T Nagai, T Hasegawa, T Ohashi, H Govaerts, LCP Eussen, BHJ Van Hemel, JO Lozzio, C Schwartz, S Dowhanick-Morrissette, JJ Spinner, NB Rivera, H Crolla, JA Yu, CY Warburton, D
Citation: Pe. Warburton et al., Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere, AM J HU GEN, 66(6), 2000, pp. 1794-1806
CHARGE association-related ocular pathology in a newborn with partial trisomy 19q and partial monosomy 21q, from a maternal translocation (19;21) (q13.1;q22.3)
Authors: De Krijger, RR Mooy, CM Van Hemel, JO Sulkers, EJ Kros, JM Bartelings, MM Govaerts, LCP
Citation: Rr. De Krijger et al., CHARGE association-related ocular pathology in a newborn with partial trisomy 19q and partial monosomy 21q, from a maternal translocation (19;21) (q13.1;q22.3), PEDIATR D P, 2(6), 1999, pp. 577-581
Submicroscopic xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14)
Authors: de Vries, BBA Eussen, BHJ van Diggelen, OP van der Heide, A Deelen, WH Govaerts, LCP Lindhout, D Wouters, CH Van Hemel, JO
Citation: Bba. De Vries et al., Submicroscopic xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14), AM J MED G, 87(2), 1999, pp. 189-194
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