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9 research outputs found
Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence ofr genotype-phenotype correlation
Author
Bakker CE
Bakker R (Lida)
+9 more
Halley Dicky
Lindhout D (Dick)
Nellist Mark
Tempelaars AMP (Anita)
van den Ouweland Ans
van Slegtenhorst Marjon
Verhoef S
Wang Q (Qing)
Wessels W
Publication venue
Publication date
01/01/1999
Field of study
Get PDF
EUR Research Repository
Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence ofr genotype-phenotype correlation
Author
Bakker CE
Bakker R (Lida)
+9 more
Halley Dicky
Lindhout D (Dick)
Nellist Mark
Tempelaars AMP (Anita)
van den Ouweland Ans
van Slegtenhorst Marjon
Verhoef S
Wang Q (Qing)
Wessels W
Publication venue
Publication date
01/01/1999
Field of study
Get PDF
EUR Research Repository
Familial cylindromatosis mimicking tuberous sclerosis complex and confirmation of the cylindromatosis locus, CYLD1, in a large family
Author
Ceelen ThL
Halley Dicky
+8 more
Jansen LAJ
Lindhout D (Dick)
Malfeyt GAM
Schrander-Strumpel CTRM
Tempelaars AMP (Anita)
van den Ouweland Ans
Verhoef S
Vuzevski V (Vojislav)
Publication venue
Publication date
01/01/1998
Field of study
Full text link
EUR Research Repository
Familial cylindromatosis mimicking tuberous sclerosis complex and confirmation of the cylindromatosis locus, CYLD1, in a large family
Author
Ceelen ThL
Halley Dicky
+8 more
Jansen LAJ
Lindhout D (Dick)
Malfeyt GAM
Schrander-Strumpel CTRM
Tempelaars AMP (Anita)
van den Ouweland Ans
Verhoef S
Vuzevski V (Vojislav)
Publication venue
Publication date
01/01/1998
Field of study
Full text link
Familial cylindromatosis mimicking tuberous sclerosis complex and confirmation of the cylindromatosis locus, CYLD1, in a large family
Author
Ceelen ThL
Halley Dicky
+8 more
Jansen LAJ
Lindhout D (Dick)
Malfeyt GAM
Schrander-Strumpel CTRM
Tempelaars AMP (Anita)
van den Ouweland Ans
Verhoef S
Vuzevski V (Vojislav)
Publication venue
Publication date
01/01/1998
Field of study
Full text link
EUR Research Repository
Recurrent Mutation 4882delTT in the GAP-Related Domain of the Tuberous Sclerosis TSC2 Gene
Author
Bakker L
Begeer JH
+10 more
Halley Dicky
Jozwiak S
Lindhout D (Dick)
Nellist Mark
Stolte-Dijkstra I
Tempelaars AMP (Anita)
van den Ouweland Ans
Verhoef S
Vrtel R
Zaremba J
Publication venue
Publication date
01/01/1997
Field of study
Full text link
EUR Research Repository
Recurrent Mutation 4882delTT in the GAP-Related Domain of the Tuberous Sclerosis TSC2 Gene
Author
Bakker L
Begeer JH
+10 more
Halley Dicky
Jozwiak S
Lindhout D (Dick)
Nellist Mark
Stolte-Dijkstra I
Tempelaars AMP (Anita)
van den Ouweland Ans
Verhoef S
Vrtel R
Zaremba J
Publication venue
Publication date
01/01/1997
Field of study
Full text link
EUR Research Repository
Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC)
Author
Bakker PLG
Halley Dicky
+10 more
Hesseling-Janssen ALW
Lindhout D (Dick)
Nellist Mark
Oranje Arnold
Stroink H (Hans)
Tempelaars AMP (Anita)
van den Ouweland Ans
Verhoef S
Vrtel R
Wang Q (Qing)
Publication venue
Publication date
01/01/1997
Field of study
Full text link
EUR Research Repository
Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC)
Author
Bakker PLG
Halley Dicky
+10 more
Hesseling-Janssen ALW
Lindhout D (Dick)
Nellist Mark
Oranje Arnold
Stroink H (Hans)
Tempelaars AMP (Anita)
van den Ouweland Ans
Verhoef S
Vrtel R
Wang Q (Qing)
Publication venue
Publication date
01/01/1997
Field of study
Full text link
EUR Research Repository