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Search Results - Bik, Elsa C
Search Results - Bik, Elsa C
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Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome
by
van der Klift, Heleen M.
,
Mensenkamp, Arjen R.
,
Drost, Mark
,
Bik, Elsa C.
,
Vos, Yvonne J.
,
Gille, Hans J.J.P.
,
Redeker, Bert E.J.W.
,
Tiersma, Yvonne
,
Zonneveld, José B.M.
,
García, Encarna Gómez
,
Letteboer, Tom G.W.
,
Olderode-Berends, Maran J.W.
,
van Hest, Liselotte P.
,
van Os, Theo A.
,
Verhoef, Senno
,
Wagner, Anja
,
van Asperen, Christi J.
,
ten Broeke, Sanne W.
,
Hes, Frederik J.
,
de Wind, Niels
,
Nielsen, Maartje
,
Devilee, Peter
,
Ligtenberg, Marjolijn J.L.
,
Wijnen, Juul T.
,
Tops, Carli M.J.
Published in
Human mutation
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Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses
by
Klift, Heleen M.
,
Jansen, Anne M. L.
,
Steenstraten, Niki
,
Bik, Elsa C.
,
Tops, Carli M. J.
,
Devilee, Peter
,
Wijnen, Juul T.
Published in
Molecular genetics & genomic medicine
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Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of lynch syndrome patients
by
van der Klift, Heleen M
,
Tops, Carli M.J
,
Bik, Elsa C
,
Boogaard, Merel W
,
Borgstein, Anne-Marijke
,
Hansson, Kerstin B.M
,
Ausems, Margreet G.E.M
,
Garcia, Encarna Gomez
,
Green, Andrew
,
Hes, Frederik J
,
Izatt, Louise
,
van Hest, Liselotte P
,
Alonso, Angel M
,
Vriends, Annette H.J.T
,
Wagner, Anja
,
van Zelst-Stams, Wendy A.G
,
Vasen, Hans F.A
,
Morreau, Hans
,
Devilee, Peter
,
Wijnen, Juul T
Published in
Human mutation
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Evidence for Subtelomeric Exchange of 3.3 kb Tandemly Repeated Units between Chromosomes 4q35 and 10q26: Implications for Genetic Counselling and Etiology of FSHD1
by
van Deutekom, Judith C. T.
,
Bakker, Egbert
,
Lemmers, Richard J. L. F.
,
van der Wielen, Michiel J. R.
,
Bik, Elsa
,
Hofker, Marten H.
,
Padberg, George W.
,
Frants, Rune R.
Published in
Human molecular genetics
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Pms2
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