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1-16
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Results: 16
Authors:
Rosenberg, C
Wouters, CH
Szuhai, K
Dorland, R
Pearson, P
Poll-The, BT
Colombijn, RM
Bruning, M
Lindhout, D
Citation: C. Rosenberg et al., A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease, EUR J HUM G, 9(3), 2001, pp. 171-177
Authors:
Augustijn, PB
Parra, J
Wouters, CH
Joosten, P
Lindhout, D
Boas, WV
Citation: Pb. Augustijn et al., Ring chromosome 20 epilepsy syndrome in children: Electroclinical features, NEUROLOGY, 57(6), 2001, pp. 1108-1111
Authors:
Wagner, A
Hendriks, Y
Meijers-Heijboer, EJ
de Leeuw, WJF
Morreau, H
Hofstra, R
Tops, C
Bik, E
Brocker-Vriends, AHJT
van der Meer, C
Lindhout, D
Vasen, HFA
Breuning, MH
Cornelisse, CJ
van Krimpen, C
Niermeijer, MF
Zwinderman, AH
Wijnen, J
Fodde, R
Citation: A. Wagner et al., Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutchpedigree, J MED GENET, 38(5), 2001, pp. 318-322
Authors:
Sander, T
Schulz, H
Saar, K
Gennaro, E
Riggio, MC
Bianchi, A
Zara, F
Luna, D
Bulteau, C
Kaminska, A
Ville, D
Cieuta, C
Picard, F
Prud'homme, JF
Bate, L
Sundquist, A
Gardiner, RM
Janssen, GAMAJ
de Haan, GJ
Kasteleijn-Nolst-Trenite, DGA
Bader, A
Lindhout, D
Riess, O
Wienker, TF
Janz, D
Reis, A
Citation: T. Sander et al., Genome search for susceptibility loci of common idiopathic generalised epilepsies, HUM MOL GEN, 9(10), 2000, pp. 1465-1472
Authors:
Lindhout, D
Citation: D. Lindhout, Pregnancy and epilepsy, EPILEPSY, 2000, pp. 241-250
Authors:
Meijers-Heijboer, H
Lindhout, D
Menko, F
Vossen, S
Moslein, G
Tops, C
Brocker-Vriends, A
Wu, Y
Hofstra, R
Sijmons, R
Cornelisse, C
Morreau, H
Fodde, R
Citation: H. Meijers-heijboer et al., Familial endometrial cancer in female carriers of MSH6 germline mutations, NAT GENET, 23(2), 1999, pp. 142-144
Authors:
Westerman, AM
Entius, MM
Boor, PPC
Koole, R
de Baar, E
Offerhaus, GJA
Lubinski, J
Lindhout, D
Halley, DJJ
de Rooij, FWM
Wilson, JHP
Citation: Am. Westerman et al., Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families, HUM MUTAT, 13(6), 1999, pp. 476-481
Authors:
Serratosa, JM
Gomez-Garre, P
Gallardo, ME
Anta, B
de Bernabe, DBV
Lindhout, D
Augustijn, PB
Tassinari, CA
Michelucci, R
Malafosse, A
Topcu, M
Grid, D
Dravet, C
Berkovic, SF
de Cordoba, SR
Citation: Jm. Serratosa et al., A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2), HUM MOL GEN, 8(2), 1999, pp. 345-352
Authors:
Samren, EB
van Duijn, CM
Christiaens, GCML
Hofman, A
Lindhout, D
Citation: Eb. Samren et al., Antiepileptic drug regimens and major congenital abnormalities in the offspring, ANN NEUROL, 46(5), 1999, pp. 739-746
Authors:
Verhoef, S
van Diemen-Steenvoorde, R
Akkersdijk, WL
Bax, NMA
Ariyurek, Y
Hermans, CJ
van Nieuwenhuizen, O
Nikkels, PGJ
Lindhout, D
Halley, DJJ
Lips, K
van den Ouweland, AMW
Citation: S. Verhoef et al., Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood, EUR J PED, 158(4), 1999, pp. 284-287
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
Authors:
Knol, IE
Ausems, MGEM
Lindhout, D
van Diggelen, OP
Verwey, H
Davies, J
van Amstel, JKP
Poll-The, BT
Citation: Ie. Knol et al., Different phenotypic expression in relatives with Fabry disease caused by a W226X mutation, AM J MED G, 82(5), 1999, pp. 436-439
Authors:
Andresen, BS
Olpin, S
Kvittingen, EA
Augoustides-Savvopoulou, P
Lindhout, D
Halley, DJJ
Vianey-Saban, C
Wanders, RJA
IJlst, L
Schroeder, LD
Bolund, L
Gregersen, N
Citation: Bs. Andresen et al., DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiency, J INH MET D, 22(3), 1999, pp. 281-285
Authors:
Westerman, AM
Entius, MM
de Baar, E
Boor, PPC
Koole, R
van Velthuysen, MLF
Offerhaus, GJA
Lindhout, D
de Rooij, FWM
Wilson, JHP
Citation: Am. Westerman et al., Peutz-Jeghers syndrome: 78-year follow-up of the original family, LANCET, 353(9160), 1999, pp. 1211-1215
Authors:
van Slegtenhorst, M
Verhoef, S
Tempelaars, A
Bakker, L
Wang, Q
Wessels, M
Bakker, R
Nellist, M
Lindhout, D
Halley, D
van den Ouweland, A
Citation: M. Van Slegtenhorst et al., Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosiscomplex patients: no evidence for genotype-phenotype correlation, J MED GENET, 36(4), 1999, pp. 285-289
Authors:
Verhoef, S
Bakker, L
Tempelaars, AMP
Hesseling-Janssen, ALW
Mazurczak, T
Jozwiak, S
Fois, A
Bartalini, G
Zonnenberg, BA
van Essen, AJ
Lindhout, D
Halley, DJJ
van den Ouweland, AMW
Citation: S. Verhoef et al., High rate of mosaicism in tuberous sclerosis complex, AM J HU GEN, 64(6), 1999, pp. 1632-1637
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