Clinically manifest X-linked recessive ichthyosis in a female due to a homozygous interstitial 1·6-Mb deletion of Xp22.31
Nagtzaam, I.F., Stegmann, A.P.A., Steijlen, P.M., Herbergs, J., Van Lent-Albrechts, J.A., Van Geel, M., Van Steensel, M.A.M.
Published in British journal of dermatology (1951) (01.04.2012)
Published in British journal of dermatology (1951) (01.04.2012)
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Journal Article
Validation of preimplantation genetic diagnosis by PCR analysis: genotype comparison of the blastomere and corresponding embryo, implications for clinical practice
Dreesen, J., Drüsedau, M., Smeets, H., de Die-Smulders, C., Coonen, E., Dumoulin, J., Gielen, M., Evers, J., Herbergs, J., Geraedts, J.
Published in Molecular human reproduction (01.10.2008)
Published in Molecular human reproduction (01.10.2008)
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Journal Article
Rett syndrome in females with CTS hot spot deletions: A disorder profile
Smeets, E., Terhal, P., Casaer, P., Peters, A., Midro, A., Schollen, E., van Roozendaal, K., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C., Fryns, J.P.
Published in American journal of medical genetics. Part A (15.01.2005)
Published in American journal of medical genetics. Part A (15.01.2005)
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Journal Article
Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy–Walker malformation
van Steensel, M.A.M., Vreeburg, M., Engelen, J., Ghesquiere, S., Stegmann, A.P.A., Herbergs, J., van Lent, J., Smeets, B., Vles, J.H.
Published in American journal of medical genetics. Part A (15.11.2008)
Published in American journal of medical genetics. Part A (15.11.2008)
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Journal Article
Rett syndrome in adolescent and adult females: Clinical and molecular genetic findings
Smeets, E., Schollen, E., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C., Fryns, J.P.
Published in American journal of medical genetics. Part A (15.10.2003)
Published in American journal of medical genetics. Part A (15.10.2003)
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Journal Article
Multiplex PCR of polymorphic markers flanking the CFTR gene; a general approach for preimplantation genetic diagnosis of cystic fibrosis
Dreesen, J.C.F.M., Jacobs, L.J.A.M., Bras, M., Herbergs, J., Dumoulin, J.C.M., Geraedts, J.P.M., Evers, J.L.H., Smeets, H.J.M.
Published in Molecular human reproduction (01.05.2000)
Published in Molecular human reproduction (01.05.2000)
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Journal Article
Multicolour fluorescent detection and mapping of AFLP markers in chicken (Gallus domesticus)
Herbergs, J., Siwek, M., Crooijmans, R. P. M. A., Van der Poel, J. J., Groenen, M. A. M.
Published in Animal genetics (01.08.1999)
Published in Animal genetics (01.08.1999)
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Journal Article
Mosaic trisomy 11p in monozygotic twins with discordant clinical phenotypes
Marcus-Soekarman, D., Hamers, G., Velzeboer, S., Nijhuis, J., Loneus, W.H., Herbergs, J., de Die-Smulders, C., Schrander-Stumpel, C., Engelen, J.
Published in American journal of medical genetics. Part A (30.01.2004)
Published in American journal of medical genetics. Part A (30.01.2004)
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Journal Article
Preimplantation genetic diagnosis of spinocerebellar ataxia 3 by (CAG)n repeat detection
Drüsedau, M., Dreesen, J.C.F.M., de Die‐Smulders, C., Hardy, K., Bras, M., Dumoulin, J.C.M., Evers, J.L.H., Smeets, H.J.M., Geraedts, J.P.M., Herbergs, J.
Published in Molecular human reproduction (01.01.2004)
Published in Molecular human reproduction (01.01.2004)
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Journal Article
The application of CT for 3D visualization of concealed bodies
Haest, Ingrid I.H., Hofman, Paul A.M., Herbergs, Jos P.J., Nelen, Hans, Jelicic, Marko
Published in Science & justice (01.07.2022)
Published in Science & justice (01.07.2022)
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Journal Article
The HMGI-C gene is a likely candidate for the autosomal dwarf locus in the chicken
Ruyter-Spira, C.P. (Wageningen Institute of Animal Sciences, Wageningen, The Netherlands.), Groof, A.J.C. de, Poel, J.J. van der, Herbergs, J, Masabanda, J, Fries, R, Groenen, M.A.M
Published in The Journal of heredity (01.07.1998)
Published in The Journal of heredity (01.07.1998)
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Combined immunocytochemistry and fluorescence in situ hybridization for simultaneous tricolor detection of cell cycle, genomic, and phenotypic parameters of tumor cells
Speel, EJ, Herbergs, J, Ramaekers, FC, Hopman, AH
Published in The Journal of histochemistry and cytochemistry (01.07.1994)
Published in The Journal of histochemistry and cytochemistry (01.07.1994)
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Journal Article
Conference Proceeding
Chromosome aberrations in adenomas of the colon. Proof of trisomy 7 in tumor cells by combined interphase cytogenetics and immunocytochemistry
Herbergs, J, de Bruïne, A P, Marx, P T, Vallinga, M I, Stockbrügger, R W, Ramaekers, F C, Arends, J W, Hopman, A H
Published in International journal of cancer (15.06.1994)
Published in International journal of cancer (15.06.1994)
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Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function
Lacbawan, F, Solomon, B D, Roessler, E, El-Jaick, K, Domené, S, Vélez, J I, Zhou, N, Hadley, D, Balog, J Z, Long, R, Fryer, A, Smith, W, Omar, S, McLean, S D, Clarkson, K, Lichty, A, Clegg, N J, Delgado, M R, Levey, E, Stashinko, E, Potocki, L, VanAllen, M I, Clayton-Smith, J, Donnai, D, Bianchi, D W, Juliusson, P B, Njølstad, P R, Brunner, H G, Carey, J C, Hehr, U, Müsebeck, J, Wieacker, P F, Postra, A, Hennekam, R C M, van den Boogaard, M-J H, van Haeringen, A, Paulussen, A, Herbergs, J, Schrander-Stumpel, C T R M, Janecke, A R, Chitayat, D, Hahn, J, McDonald-McGinn, D M, Zackai, E H, Dobyns, W B, Muenke, M
Published in Journal of medical genetics (01.06.2009)
Published in Journal of medical genetics (01.06.2009)
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Journal Article
Clinically manifest X-linked recessive ichthyosis in a female due to a homozygous interstitial 1·6-Mb deletion of Xp22.31: Correspondence
Nagtzaam, I.F., Stegmann, A.P.A., Steijlen, P.M., Herbergs, J., Van Lent-Albrechts, J.A., Van Geel, M., Van Steensel, M.A.M.
Published in British journal of dermatology (1951) (01.04.2012)
Published in British journal of dermatology (1951) (01.04.2012)
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Journal Article
Generation of a panel of somatic cell hybrids containing fragments of human chromosome 12p by X-ray irradiation and cell fusion
Sinke, R.J., Suijkerbuijk, R.F., Herbergs, J., Janssen, H., Cassiman, J.J., van Kessel, A.Geurts
Published in Genomics (San Diego, Calif.) (01.02.1992)
Published in Genomics (San Diego, Calif.) (01.02.1992)
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Journal Article
A genetic-correlational study of hippocampal structural variation and variation in exploratory activities of mice
van Daal, J H, Herbergs, P J, Crusio, W E, Schwegler, H, Jenks, B G, Lemmens, W A, van Abeelen, J H
Published in Behavioural brain research (18.04.1991)
Published in Behavioural brain research (18.04.1991)
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Journal Article
Nucleotide sequence of the chicken HMGI-C cDNA and expression of the HMGI-C and IGF1 genes in autosomal dwarf chicken embryos
Ruyter-Spira, C.P., Herbergs, J., Limpens, E., Marsh, J.A., van der Poel, J.J., Ayoubi, T.A.Y., Groenen, M.A.M.
Published in Biochimica et biophysica acta (30.07.1998)
Published in Biochimica et biophysica acta (30.07.1998)
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Journal Article
Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females ( MECP2)
Moog, Ute, Smeets, Eric EJ, van Roozendaal, Kees EP, Schoenmakers, Sam, Herbergs, Jos, Schoonbrood-Lenssen, Anneke MJ, Schrander-Stumpel, Connie TRM
Published in European Journal of Paediatric Neurology (2003)
Published in European Journal of Paediatric Neurology (2003)
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Mosaic telomeric (2;14) association in a child with motor delay
Engelen, J J, Marcelis, C, Herbergs, J, Weber, J, Alofs, M, Albrechts, J C, Hamers, A J
Published in American journal of medical genetics (19.06.2000)
Published in American journal of medical genetics (19.06.2000)
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