Autosomal dominant inheritance of abnormalities of the hands and feet with short palpebral fissures, variable microcephaly with learning disability, and oesophageal/duodenal atresi...

מאת Brunner, H G, Winter, R M
יצא לאור 1991

Predicting disease genes using protein–protein interactions

מאת Oti, M, Snel, B, Huynen, M A, Brunner, H G
יצא לאור 2006

Shortened time interval between colorectal cancer diagnosis and risk testing for hereditary colorectal cancer is not related to higher psychological distress

מאת Landsbergen, K. M., Prins, J. B., Brunner, H. G., Hoogerbrugge, N.
יצא לאור 2010

Intestinal pseudo-obstruction in myotonic dystrophy.

מאת Brunner, H G, Hamel, B C, Rieu, P, Höweler, C J, Peters, F T
יצא לאור 1992

The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies.

מאת Cunliffe, H E, McNoe, L A, Ward, T A, Devriendt, K, Brunner, H G, Eccles, M R
יצא לאור 1998

Presymptomatic diagnosis of myotonic dystrophy.

מאת Brunner, H G, Nillesen, W, van Oost, B A, Jansen, G, Wieringa, B, Ropers, H H, Smeets, H J
יצא לאור 1992

GeneSeeker: extraction and integration of human disease-related information from web-based genetic databases

מאת van Driel, M. A., Cuelenaere, K., Kemmeren, P. P. C. W., Leunissen, J. A. M., Brunner, H. G., Vriend, Gert
יצא לאור 2005

Benign familial hematuria due to mutation of the type IV collagen alpha4 gene.

מאת Lemmink, H H, Nillesen, W N, Mochizuki, T, Schröder, C H, Brunner, H G, van Oost, B A, Monnens, L A, Smeets, H J
יצא לאור 1996

A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome

מאת Vulto-van Silfhout, A.T., de Brouwer, A.F.M., de Leeuw, N., Obihara, C.C., Brunner, H.G., de Vries, B.B.A.
יצא לאור 2012

Psychological distress in newly diagnosed colorectal cancer patients following microsatellite instability testing for Lynch syndrome on the pathologist’s initiative

מאת Landsbergen, K. M., Prins, J. B., Brunner, H. G., van Duijvendijk, P., Nagengast, F. M., van Krieken, J. H., Ligtenberg, M., Hoogerbrugge, N.
יצא לאור 2012

Anticipation resulting in elimination of the myotonic dystrophy gene: a follow up study of one extended family.

מאת de Die-Smulders, C E, Höweler, C J, Mirandolle, J F, Brunner, H G, Hovers, V, Brüggenwirth, H, Smeets, H J, Geraedts, J P
יצא לאור 1994

Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability

מאת Kets, C M, van Krieken, J H J M, Hebeda, K M, Wezenberg, S J, Goossens, M, Brunner, H G, Ligtenberg, M J L, Hoogerbrugge, N
יצא לאור 2006

X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism.

מאת Brunner, H G, Nelen, M R, van Zandvoort, P, Abeling, N G, van Gennip, A H, Wolters, E C, Kuiper, M A, Ropers, H H, van Oost, B A
יצא לאור 1993

Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes.

מאת Lenders, J W, Eisenhofer, G, Abeling, N G, Berger, W, Murphy, D L, Konings, C H, Wagemakers, L M, Kopin, I J, Karoum, F, van Gennip, A H, Brunner, H G
יצא לאור 1996

Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)(q21.1;p11.2) Translocation with Long-Range Epigenetic Silencing of L...

מאת de Bruijn, D.R.H., van Dijk, A.H.A., Pfundt, R., Hoischen, A., Merkx, G.F.M., Gradek, G.A., Lybæk, H., Stray-Pedersen, A., Brunner, H.G., Houge, G.
יצא לאור 2010

Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome.

מאת Meijers-Heijboer, E J, Sandkuijl, L A, Brunner, H G, Smeets, H J, Hoogeboom, A J, Deelen, W H, van Hemel, J O, Nelen, M R, Smeets, D F, Niermeijer, M F
יצא לאור 1992

Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.

מאת van Bokhoven, H, Jung, M, Smits, A P, van Beersum, S, Rüschendorf, F, van Steensel, M, Veenstra, M, Tuerlings, J H, Mariman, E C, Brunner, H G, Wienker, T F, Reis, A, Ropers, H H, Hamel, B C
יצא לאור 1999

Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3)

מאת Bach, I., Brunner, H. G., Beighton, P., Ruvalcaba, R. H. A., Reardon, W., Pembrey, M. E., van der Velde-Visser, S. D., Bruns, G. A. P., Cremers, C. W. R. J., Cremers, F. P. M., Ropers, H.-H.
יצא לאור 1992

Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer

מאת Overbeek, L I H, Kets, C M, Hebeda, K M, Bodmer, D, der Looij, E van, Willems, R, Goossens, M, Arts, N, Brunner, H G, van Krieken, J H J M, Hoogerbrugge, N, Ligtenberg, M J L
יצא לאור 2007

Influence of sex of the transmitting parent as well as of parental allele site on the CTG expansion in myotonic dystrophy (DM)

מאת Brunner, H. G., Brüggenwirth, H. T., Nillesen, W., Jansen, G., Hamel, B. C. J., Hoppe, R. L. E., de Die, C. E. M., Höweler, C. J., van Oost, B. A., Wieringa, B., Ropers, H. H., Smeets, H. J. M.
יצא לאור 1993