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1 . Academic Journal
Genotype-phenotype correlations in MYCN-related Feingold syndrome.
저자
by
Marcelis, Carlo L.M.
;
Hol, Frans A.
;
Graham, Gail E.
;
Rieu, Paul N.M.A.
;
Kellermayer, Richard
, et al.
소스
Human Mutation; Sep2008, Vol. 29 Issue 9, p1125-1132, 8p
Web of Science
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7 . Academic Journal
Muscle 3243A→G mutation load and capacity of the mitochondrial energy-generating system.
저자
by
Janssen, Antoon J. M.
;
Schuelke, Markus
;
Smeitink, Jan A. M.
;
Trijbels, Frans J. M.
;
Sengers, Rob C. A.
, et al.
소스
Annals of Neurology
. Apr2008, Vol. 63 Issue 4, p473-481. 9p.
Full Text (Wiley)
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7 . Academic Journal
Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf–Hirschhorn syndrome.
저자
by
Flipsen-ten Berg, Klara
;
van Hasselt, Peter M.
;
Eleveld, Marc J.
;
van der Wijst, Suzanne E.
;
Hol, Frans A.
, et al.
소스
European Journal of Human Genetics
. Nov2007, Vol. 15 Issue 11, p1132-1138. 7p. 3 Diagrams, 1 Chart, 1 Graph.
Web of Science
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7 . Academic Journal
Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.
저자
by
Verbeek, Marcel M.
;
Steenbergen-Spanjers, Gerry C. H.
;
Willemsen, Michèl A. A. P.
;
Hol, Frans A.
;
Smeitink, Jan
, et al.
소스
Annals of Neurology
. Oct2007, Vol. 62 Issue 4, p422-426. 4p.
Full Text (Wiley)
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7 . Academic Journal
The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff–Parkinson–White.
저자
by
Ruiter, E. Mariken
;
Siers, Marloes H.
;
van den Elzen, Christa
;
van Engelen, Baziel G.
;
Smeitink, Jan A. M.
, et al.
소스
European Journal of Human Genetics
. Feb2007, Vol. 15 Issue 2, p155-161. 7p. 1 Chart, 3 Graphs.
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7 . Academic Journal
Sequence Analysis of the Structural Nuclear Encoded Subunits and Assembly Genes of Cytochrome c Oxidase in a Cohort of 10 Isolated Complex IV--Deficient Patients Revealed Five Mutations.
저자
by
Coenen, Marieke J. H.
;
Smeitink, Jan A. M.
;
Pots, Jeanette M.
;
van Kaauwen, Edwin
;
Trijbels, Frans J. M.
, et al.
소스
Journal of Child Neurology
. Jun2006, Vol. 21 Issue 6, p508-511. 4p.
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7 . Academic Journal
No evidence for involvement of IL-4R and CD11B from the IBD1 region and STAT6 in the IBD2 region in Crohn's disease.
저자
by
de Jong, Dirk J.
;
Franke, Barbara
;
Naber, Anton H.J.
;
Willemen, Judith J.H.T.
;
Heister, Angelien J.G.A.M.
, et al.
소스
European Journal of Human Genetics
. Nov2003, Vol. 11 Issue 11, p884. 4p.
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7 . Academic Journal
Confirmation of dyslexia susceptibility loci on chromosomes 1p and 2p, but not 6p in a Dutch sib-pair collection
저자
by
de Kovel, Carolien G.F.
;
Franke, Barbara
;
Hol, Frans A.
;
Lebrec, Jérémie J.P.
;
Maassen, Ben
, et al.
소스
American Journal Of Medical Genetics - A
. Apr 05, 2008 147B(3):294-300
Web of Science
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7 . Academic Journal
Altered regulation of platelet-derived growth factor receptor-alpha gene transcription in vitro...
저자
by
Joosten, Paul H. L.
;
Hol, Frans A.
.
소스
Proceedings of the National Academy of Sciences of the United States of America
. 11/24/98, Vol. 95 Issue 24, p14459. 5p.
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4 . Periodical
Identification and Characterization of an Xq26–q27 Duplication in a Family with Spina Bifida and Panhypopituitarism Suggests the Involvement of Two Distinct Genes
저자
by
Hol, Frans A.
;
Schepens, Marga T.
;
van Beersum, Sylvia E.C.
;
Redolfi, Elena
;
Affer, Maurizio
, et al.
소스
Genomics; October 2000, Vol. 69 Issue: 2 p174-181, 8p
Full Text (ScienceDirect)
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