Zobrazeno 1 - 10
of 117
pro vyhledávání: '"S, Schuffenhauer"'
Publikováno v:
Pädiatrie ISBN: 9783642546716
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0bca9eacb4d13f6e0fb3daa74a6de3ce
https://doi.org/10.1007/978-3-642-54671-6_41-1
https://doi.org/10.1007/978-3-642-54671-6_41-1
Publikováno v:
Acta geneticae medicae et gemellologiae: twin research. 45:217-220
Angelman syndrome (AS) is caused by the loss of function of yet unidentified gene(s) which map within 15q 11-13 and show monoallelic expression from the maternal allele. Lack of the maternal allele(s), due to either a deletion on the maternal chromos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efd51e6716a35edf9e3f02004eeeda0a
https://doi.org/10.1017/s0001566000001331
https://doi.org/10.1017/s0001566000001331
Publikováno v:
Journal of Basic Microbiology. 31:51-57
By shift experiments after labelling mycelium with d-glucose-U-14C, l-leucine-U-14C or Na15NO3, it was possible to demonstrate that in the biosynthesis of cyclic tetrapeptides during the idiophase, Alternaria alternata uses mycelium compounds produce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::97564ecdd2d606efa42f1246e4d94a52
https://doi.org/10.1002/jobm.3620310111
https://doi.org/10.1002/jobm.3620310111
Autor:
S. Schuffenhauer
Publikováno v:
Pädiatrie ISBN: 9783540718956
Pädiatrie ISBN: 9783662091777
Pädiatrie ISBN: 9783662091777
Definition. Chromosomen sind im Zellkern lokalisierte, molekular hoch organisierte Struktureinheiten, die aus DNA, Proteinen und RNA bestehen. Sie sind die Trager der Erbinformation und lassen sich wahrend der Zellteilung (Mitose) lichtmikroskopisch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a44dc50a753567b6bf7552d2fe25aba
https://doi.org/10.1007/978-3-540-76460-1_30
https://doi.org/10.1007/978-3-540-76460-1_30
Publikováno v:
Pädiatrie ISBN: 9783662126615
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7ad3fa6db883165d2c245e1810fbf9e1
https://doi.org/10.1007/978-3-662-12660-8_5
https://doi.org/10.1007/978-3-662-12660-8_5
Publikováno v:
Clinical genetics. 57(2)
Apert syndrome is an autosomal dominant condition characterized by craniosynostosis and severe syndactyly, caused by two recurrent mutations in the fibroblast growth factor receptor 2 gene (FGFR2). The genotype-phenotype correlations of 21 patients w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2e8576a4219a37a3b0d08504d5c8a085
https://pubmed.ncbi.nlm.nih.gov/10735635
https://pubmed.ncbi.nlm.nih.gov/10735635
Publikováno v:
Taschenbuch der medizinisch-klinischen Diagnostik ISBN: 9783642640407
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::02cba6473a22a3ee6b9ad0b530660d64
https://doi.org/10.1007/978-3-642-59591-2_5
https://doi.org/10.1007/978-3-642-59591-2_5
Publikováno v:
Der Internist. 40(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8980357eccc41c200e9ae00f7674bf05
https://pubmed.ncbi.nlm.nih.gov/10354944
https://pubmed.ncbi.nlm.nih.gov/10354944
Publikováno v:
Cytogenetics and cell genetics. 83(3-4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6076092704af9d9cfb4457e5b04d596e
https://pubmed.ncbi.nlm.nih.gov/10072584
https://pubmed.ncbi.nlm.nih.gov/10072584
Autor:
C McKeown, Giuseppe Novelli, A J Green, Judith A. Goodship, D I Wilson, Robin M. Winter, B Belohradsky, E Hatchwell, A. Levy, Alain Aurias, H Seidel, F L Raymond, Karen Brøndum-Nielsen, H Oechsler, Nicole Philip, Jane A. Hurst, M Prieur, Louise Brueton, Frits A. Beemer, Peter J. Scambler, Bruno Dallapiccola, Jill Clayton-Smith, A K Ryan, S Schuffenhauer, J Ignatius
We present clinical data on 558 patients with deletions within the DiGeorge syndrome critical region of chromosome 22q11. Twenty-eight percent of the cases where parents had been tested had inherited deletions, with a marked excess of maternally inhe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cda784b4f88516d1bbe4dc8d73c9a6ce
https://europepmc.org/articles/PMC1051084/
https://europepmc.org/articles/PMC1051084/