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Identification and Characterization of an Xq26–q27 Duplication in a Family with Spina Bifida and Panhypopituitarism Suggests the Involvement of Two Distinct Genes
by
Hol, Frans A.
,
Schepens, Marga T.
,
van Beersum, Sylvia E.C.
,
Redolfi, Elena
,
Affer, Maurizio
,
Vezzoni, Paolo
,
Hamel, Ben C.J.
,
Karnes, Pamela S.
,
Mariman, Edwin C.M.
,
Zucchi, Ileana
Published in
Genomics (San Diego, Calif.)
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Scrutinizing ciliopathies by unravelling the ciliary interactome
by
van Reeuwijk, J
,
Boldt, K
,
Mans, DA
,
Texier, Y
,
van Beersum, SE
,
Letteboer, SJ
,
Nguyen, MTT
,
Ueffing, M
,
Roepman, R
Published in
Cilia (London)
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Refined Genetic and Physical Localization of the Wagner Disease (WGN1) Locus and the Genes CRTL1 and CSPG2 to a 2- to 2.5-cM Region of Chromosome 5q14.3
by
Perveen, Rahat
,
Hart-Holden, Niki
,
Dixon, Michael J.
,
Wiszniewski, Wojtek
,
Fryer, Alan E.
,
Brunner, Han G.
,
Pinkners, Alfred J.L.H.
,
van Beersum, Sylvie E.C.
,
Black, Graeme C.M.
Published in
Genomics (San Diego, Calif.)
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Chromosome Mapping
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