Zobrazeno 1 - 10
of 66
pro vyhledávání: '"D, Hosenfeld"'
Autor:
P. Steinbach, D. W�hrle, G. Tariverdian, I. Kennerknecht, G. Barbi, H. Edlinger, H. Enders, M. G�tz-Sothmann, H. Heilbronner, D. Hosenfeld, R. Kircheisen, F. Majewski, P. Meinecke, E. Passarge, A. Schmidt, H. Seidel, G. Wolff, M. Zank
Publikováno v:
Human Genetics. 92:491-498
Molecular genetic analysis of the transmission of mutations in 73 families with fragile X (one of the largest samples evaluated so far) has confirmed previous hypotheses that the fragile X syndrome results from two consecutive mutational steps, desig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4250e41e4f8ca758bfa1603778aee4cb
https://doi.org/10.1007/bf00216457
https://doi.org/10.1007/bf00216457
Autor:
A Bacskulin, H C Oppermann, W Bruckl, D Hosenfeld, Thomas Meitinger, Simone Schuffenhauer, J Jenderny, Pierre-Marc Bouloux, O Swensson, Alfons Meindl
Publikováno v:
Scopus-Elsevier
The molecular characterisation of chromosomal aberrations in Xp22.3 has established the map position of several genes with mutations resulting in diverse phenotypes such as short stature (SS), chondrodysplasia punctata (CDPX), mental retardation (MRX
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43643c43e9ca89878a080e870f9b033e
https://pubmed.ncbi.nlm.nih.gov/8230160
https://pubmed.ncbi.nlm.nih.gov/8230160
Autor:
N, Philip, P, Meinecke, A, David, J, Dean, S, Ayme, R, Clark, E, Gross-Kieselstein, D, Hosenfeld, A, Moncla, D, Muller
Publikováno v:
Clinical dysmorphology. 1(2)
Kabuki make-up (Niikawa-Kuroki) syndrome has been described mainly in Japanese patients. In this paper we report sixteen new cases from Europe and North America, suggesting that Kabuki make-up syndrome may be more common outside of Japan than suppose
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::186002e6435dd31d1f62e8275d7bb51a
https://pubmed.ncbi.nlm.nih.gov/1285376
https://pubmed.ncbi.nlm.nih.gov/1285376
Publikováno v:
Clinical genetics. 39(5)
We briefly present software for performing metacarpophalangeal pattern (MCPP) profile analysis, which runs on generally available low-cost IBM (PC, XT, AT) and compatible PCs. The program is easy for the medical geneticist to handle and apply. We com
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c8a0fc8f6b20d989b2d2923d4e7c448
https://pubmed.ncbi.nlm.nih.gov/1860258
https://pubmed.ncbi.nlm.nih.gov/1860258
Publikováno v:
Cytogenetics and cell genetics. 56(2)
A young male with a karyotype of 46, X,+mar is described. Physical mapping of the marker chromosome by using Y-specific single-copy or moderately repeated DNA sequences as molecular probes showed that, in addition to the heterochromatic part of the Y
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc67f67771144dc019bf253589881563
https://pubmed.ncbi.nlm.nih.gov/2013232
https://pubmed.ncbi.nlm.nih.gov/2013232
Publikováno v:
DMW - Deutsche Medizinische Wochenschrift. 103:2076-2078
The detection rate for female carriers of haemophilia A was investigated by comparing the one-step method of Hardisty and Macpherson for biological activity of factor VIII with quantitative immunoelectrophoresis (after Laurell) for factor VIII-associ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8e046ea047c7877fb0074c3746b8d8f8
https://doi.org/10.1055/s-0028-1129400
https://doi.org/10.1055/s-0028-1129400
Autor:
D. Hosenfeld, H. R. Wiedemann
Publikováno v:
Clinical genetics. 35(5)
A 32-year-old man with disproportionate short stature and striking facial dysmorphism came to genetic counseling as his wife was expecting their first child. In early infancy he had been diagnosed as having chondrodysplasia punctata, later regarded t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::437ae9c5de32bff7cbb1cad3799fbda9
https://pubmed.ncbi.nlm.nih.gov/2758688
https://pubmed.ncbi.nlm.nih.gov/2758688
Publikováno v:
Die Medizinische Welt. 33(42)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::806dd8cd4a610587a733078c34a5c9ee
https://pubmed.ncbi.nlm.nih.gov/7176872
https://pubmed.ncbi.nlm.nih.gov/7176872
Publikováno v:
European journal of pediatrics. 143(1)
A mild bleeding tendency with characteristics of the von Willebrand disease was documented in family members of a girl with glycogen storage disease type Ib (GSD) Ib). It was assumed that a defective glucose-6-phosphate dependent microsomal glycoprot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99a2ec33bab47c104102abee749258cc
https://pubmed.ncbi.nlm.nih.gov/6334607
https://pubmed.ncbi.nlm.nih.gov/6334607
Autor:
D, Hosenfeld
Publikováno v:
Deutsche medizinische Wochenschrift (1946). 103(7)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2020e206d04cb8aa740fecb69405c5c1
https://pubmed.ncbi.nlm.nih.gov/627186
https://pubmed.ncbi.nlm.nih.gov/627186