Get started
Author

Helmut Heilbronner

Observed names: H Heilbronner, H. Heilbronner, Heilbronner, H.
OpenAlex ID: A5045942447
A Novel Ribosomal S6-Kinase (RSK4; RPS6KA6) Is Commonly Deleted in Patients with Complex X-Linked Mental Retardation
1999 · Helger G. Yntema, Bellinda van den Helm, et al. · Genomics · 123
Loss of the Y chromosomal PAR2-region in four familial cases of satellited Y chromosomes (Yqs)
2001 · Hjalmar Kühl, Susanne Röttger, et al. · Chromosome Research · 115
Specific transcriptional changes in human fetuses with autosomal trisomies
2007 · Ö. Altug-Teber, M. Bonin, et al. · Cytogenetic and Genome Research · 78
Satellited Y chromosomes: Structure, origin, and clinical significance
1984 · M. Schmid, T. Haaf, et al. · Human Genetics · 51
Mutational spectrum in German patients with phenylalanine hydroxylase deficiency
2003 · Christa Aulehla-Scholz, Helmut Heilbronner · Human Mutation · 39
PDF
Cytogenetische Untersuchungen an Trichlor�thylen-Arbeitern
1978 · H. Konietzko, W. Haberlandt, et al. · Archives of Toxicology · 33
Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita
1991 · M. Stuhrmann, H. Heilbronner, et al. · Human Genetics · 23
Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families
1993 · P. Steinbach, D. W�hrle, et al. · Human Genetics · 18
Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3
2006 · Andreas Tzschach, Maria Hoeltzenbein, et al. · European Journal of Human Genetics · 17
Pseudodominant inheritance of the hyperimmunoglobulinemia D with periodic fever syndrome in a mother and her two monozygotic twins
2005 · Toni Hospach, Pia Lohse, et al. · Arthritis & Rheumatism · 13
In vivo induction of neoplastic growth in nude mouse connective tissue adjacent to xenografted human tumors
1983 · H. J. Staab, H. Heilbronner, et al. · Journal of Cancer Research and Clinical Oncology · 11
Cell fusion responsible for horizontal oncogenesis by human tumors in nude mice
1984 · J. Kömpf, H.J. Staab, et al. · Biochemical and Biophysical Research Communications · 6
Pränatale Diagnose der Gaucher-Krankheit
2008 · H. Heilbronner, K. G. Wurster, et al. · DMW - Deutsche Medizinische Wochenschrift · 5
A novel splice-site mutation in the CD40L gene in a patient with X-linked hyper-IgM syndrome
1996 · Dezsö David, Ulrike Orth, et al. · Human Mutation · 3
[Fiber-endoscopic scarification of esophageal varices or esophageal wall sclerotization using the fiber endoscope?].
1979 · K G Wurster, G E Clemens, et al. · PubMed · 3
[Sex chromosome aberration with the 48 XYYY karyotype. A case report of the phenotype of a rare sex chromosome aneuploidy].
1994 · A Stein, H Heilbronner, et al. · PubMed · 2
Amniotic fluid levels of 17 alpha-hydroxyprogesterone during human pregnancy: pre-natal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
1982 · K G Wurster, M B Ranke, et al. · PubMed · 2
Ergebnisse der transzervikalen Chorionzottenbiopsie
1991 · E. Wiest, M. Menton, et al. · Springer eBooks · 1
Data on linkage relations between GLO and 21-hydroxylase
1980 · J. K�mpf, G. Siebert, et al. · Human Genetics · 1
Detailed characterization of small supernumerary marker chromosomes reveals breakpoint hot spots and narrows down the critical regions of clinical impact.
2010 · Anja Weise, N Kosyakova, et al. · Medizinische Genetik
Molecular cytogenetic characterization of four new cases with a small supernumerary marker chromosome derived from chromosome 16
2009 · M Ziegler, JB Melo, et al. · Medizinische Genetik
Supplementary Material for: Specific transcriptional changes in human fetuses with autosomal trisomies
2008 · Altug-Teber Ö., Bonin, M., et al. · Figshare
Author Index Vol. 119, 2007
2007 · A. Mader, S. Wegener, et al. · Cytogenetic and Genome Research
[Spectrum of the tasks of human genetics].
2001 · H Heilbronner · PubMed
[Psychopathologic symptoms in 2 cases of partial trisomy 13].
1990 · S G Schröder, G A Wiesbeck, et al. · PubMed
Works count: 26
Citation count: 544
H-index: 11
I10-index: 11
Year
Topic
Type