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Search Results - van den Helm, Bellinda
Search Results - van den Helm, Bellinda
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Localizaion of the gene for dominant cystoid macular dystrophy on chromosome 7p
by
Kremer, Hannie
,
Pinckers, Alfred
,
Helm, Bellinda van den
,
Deutman, August F.
,
Ropers, Hans-HIlger
,
Mariman, Edwin C.M.
Published in
Human molecular genetics
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A Novel Ribosomal S6-Kinase (RSK4; RPS6KA6) Is Commonly Deleted in Patients with Complex X-Linked Mental Retardation
by
Yntema, Helger G.
,
van den Helm, Bellinda
,
Kissing, Johan
,
van Duijnhoven, Gerard
,
Poppelaars, Francis
,
Chelly, Jamel
,
Moraine, Claude
,
Fryns, Jean-Pierre
,
Hamel, Ben C.J.
,
Heilbronner, Helmut
,
Pander, Hans-Jürgen
,
Brunner, Han G.
,
Ropers, Hans-Hilger
,
Cremers, Frans P.M.
,
van Bokhoven, Hans
Published in
Genomics (San Diego, Calif.)
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Localization of a Gene for Möbius Syndrome to Chromosome 3q by Linkage Analysis in a Dutch Family
by
Kremer, Hannie
,
Kuyt, Lambertus P.
,
van den Helm, Bellinda
,
van Reen, Margo
,
Leunissen, Jack A. M.
,
Hamel, Ben C. J.
,
Jansen, Cees
,
Mariman, Edwin C. M.
,
Frants, Rune R.
,
Padberg, George W.
Published in
Human molecular genetics
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Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family
by
DE BROUWER, Arjan P. M
,
PENNINGS, Ronald J. E
,
KIMBERLING, William J
,
CREMERS, Frans P. M
,
CREMERS, Cor W. R. J
,
KREMER, Hannie
,
ROETERS, Marjolijn
,
VAN HAUWE, Peter
,
ASTUTO, Lisa M
,
HOEFSLOOT, Lies H
,
HUYGEN, Patrick L. M
,
VAN DEN HELM, Bellinda
,
DEUTMAN, August F
,
BORK, Julie M
Published in
Human genetics
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Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea
by
van Lith-Verhoeven, Janneke J C
,
Cremers, Frans P M
,
van den Helm, Bellinda
,
Hoyng, Carel B
,
Deutman, August F
Published in
Molecular vision
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Localisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26
by
Yntema, H G
,
Hamel, B C
,
Smits, A P
,
van Roosmalen, T
,
van den Helm, B
,
Kremer, H
,
Ropers, H H
,
Smeets, D F
,
van Bokhoven, H
Published in
Journal of medical genetics
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A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region
by
Hamel, Ben C J
,
Wesseling, Pieter
,
Renier, Willy O
,
van den Helm, Bellinda
,
Ropers, Hans-Hilger
,
Kremer, Hannie
,
Mariman, Edwin C M
Published in
Journal of medical genetics
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X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3
by
Siderius, Liesbeth E.
,
Hamel, Ben C.J.
,
van Bokhoven, Hans
,
de Jager, Frank
,
van den Helm, Bellinda
,
Kremer, Hannie
,
Heineman-de Boer, Josien A.
,
Ropers, Hans-Hilger
,
Mariman, Edwin C.M.
Published in
American journal of medical genetics
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Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis
by
Hamel, Ben C.J.
,
Smits, Arie P.T.
,
van den Helm, Bellinda
,
Smeets, Dominique F.C.M.
,
Knoers, Nine V.A.M.
,
van Roosmalen, Tanja
,
Thoonen, Geert H.J.
,
Assman-Hulsmans, Claire F.C.H.
,
Ropers, Hans-Hilger
,
Mariman, Edwin C.M.
,
Kremer, Hannie
Published in
American journal of medical genetics
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X-linked mental retardation: Evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region
by
Yntema, Helger G.
,
van den Helm, Bellinda
,
Knoers, Nine V.A.M.
,
Smits, Arie P.T.
,
van Roosmalen, Tanja
,
Smeets, Dominique F.C.M.
,
Mariman, Edwin C.M.
,
van der Burgt, Ineke
,
van Bokhoven, Hans
,
Ropers, Hans-Hilger
,
Kremer, Hannie
,
Hamel, Ben C.J.
Published in
American journal of medical genetics
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