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Wyszukujesz frazę ""Pfundt, Rolph"" wg kryterium: Autor


Tytuł:
The cooperation between two silencers creates an enhancer element that controls both the lens-preferred and the differentiantion stage-specific expression of the rat βB2;-crystallin gene.
Autorzy:
Dirks, Ron P. H.
Kraft, Harry J.
van Genesen, Siebe T.
Klok, Erik J.
Pfundt, Rolph
Schoenmakers, John G. G.
Lubsen, Nicolette H.
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Temat:
CELLS
GROWTH factors
CYTOKINES
CELLULAR immunity
CHEMOKINES
PEPTIDES
Źródło:
European Journal of Biochemistry; 7/1/96, Vol. 239 Issue 1, p23-32, 10p
Czasopismo naukowe
Tytuł:
Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.
Autorzy:
Koolen DA; Department of Human Genetics, Radboud University Nijmegen Medical Centre, 9101, 6500 HB, Nijmegen, The Netherlands.
Herbergs J; Department of Clinical Genetics, Academic Hospital, Maastricht, The Netherlands.
Veltman JA; Department of Human Genetics, Radboud University Nijmegen Medical Centre, 9101, 6500 HB, Nijmegen, The Netherlands.
Pfundt R; Department of Human Genetics, Radboud University Nijmegen Medical Centre, 9101, 6500 HB, Nijmegen, The Netherlands.
van Bokhoven H; Department of Human Genetics, Radboud University Nijmegen Medical Centre, 9101, 6500 HB, Nijmegen, The Netherlands.
Stroink H; Department of Neurology, St. Elisabeth and TweeSteden Hospital, Tilburg, The Netherlands.
Sistermans EA; Department of Human Genetics, Radboud University Nijmegen Medical Centre, 9101, 6500 HB, Nijmegen, The Netherlands.
Brunner HG; Department of Human Genetics, Radboud University Nijmegen Medical Centre, 9101, 6500 HB, Nijmegen, The Netherlands.
Geurts van Kessel A; Department of Human Genetics, Radboud University Nijmegen Medical Centre, 9101, 6500 HB, Nijmegen, The Netherlands.
de Vries BBA; Department of Human Genetics, Radboud University Nijmegen Medical Centre, 9101, 6500 HB, Nijmegen, The Netherlands. .
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Źródło:
Journal of human genetics [J Hum Genet] 2006; Vol. 51 (8), pp. 721-726. Date of Electronic Publication: 2006 Jul 25.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Gene Duplication*
Chromosomes, Human, Pair 5/*genetics
Genes, Duplicate/*genetics
Genetic Predisposition to Disease/*genetics
Holoprosencephaly/*genetics
Polydactyly/*genetics
beta-Transducin Repeat-Containing Proteins/*genetics
Adolescent ; Adult ; Genome, Human/genetics ; Humans ; Magnetic Resonance Imaging ; Male ; Nucleic Acid Hybridization ; Nucleophosmin ; Ubiquitin-Protein Ligases
Czasopismo naukowe
Tytuł:
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
Autorzy:
Koolen DA; Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands.
Vissers LE
Pfundt R
de Leeuw N
Knight SJ
Regan R
Kooy RF
Reyniers E
Romano C
Fichera M
Schinzel A
Baumer A
Anderlid BM
Schoumans J
Knoers NV
van Kessel AG
Sistermans EA
Veltman JA
Brunner HG
de Vries BB
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Źródło:
Nature genetics [Nat Genet] 2006 Sep; Vol. 38 (9), pp. 999-1001. Date of Electronic Publication: 2006 Aug 13.
Typ publikacji:
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosome Deletion*
Chromosome Inversion*
Chromosomes, Human, Pair 17*
Polymorphism, Genetic*
Adolescent ; Adult ; Brain/abnormalities ; Brain/diagnostic imaging ; Child, Preschool ; Cohort Studies ; Face/pathology ; Female ; Gene Dosage ; Gene Frequency ; Haplotypes ; Humans ; Intellectual Disability/epidemiology ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Magnetic Resonance Imaging ; Male ; Muscle Hypotonia/genetics ; Muscle Hypotonia/physiopathology ; Physical Chromosome Mapping ; Prevalence ; Radiography ; Receptors, Corticotropin-Releasing Hormone/genetics ; Syndrome ; tau Proteins/genetics
Czasopismo naukowe

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