Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Deletion(s)"'
Publikováno v:
Balkan Journal of Medical Genetics, Vol 16, Iss 1, Pp 73-76 (2013)
Globozoospermia is a rare but severe teratozoospermia, characterized by ejaculates consisting completely of round-headed spermatozoa that lack an acrosome or, in partial globozoospermia, containing a variable proportion (20.0-90.0%) of acrosomeless s
Externí odkaz:
https://doaj.org/article/242ca799cf4d47f0a531ebe6b609f557
Autor:
I Maleva, Svetlana Madjunkova, P Noveski, Dijana Plaseska-Karanfilska, Valentina Sotiroska, Z Petanovski
Publikováno v:
Balkan Journal of Medical Genetics : BJMG
Balkan Journal of Medical Genetics, Vol 16, Iss 1, Pp 73-76 (2013)
Balkan Journal of Medical Genetics, Vol 16, Iss 1, Pp 73-76 (2013)
Globozoospermia is a rare but severe terato- zoospermia, characterized by ejaculates consisting completely of round-headed spermatozoa that lack an acrosome or, in partial globozoospermia, containing a variable proportion (20.0-90.0%) of acrosomeless
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5734e3f2039023fb2aec79d487a3047
http://europepmc.org/articles/PMC3835300
http://europepmc.org/articles/PMC3835300
Publikováno v:
ResearcherID
SummaryThe human Xp/Yp telomere–junction region exhibits high levels of sequence polymorphism and linkage disequilibrium. To determine whether this is a general feature of human telomeres, we have undertaken sequence analysis at the 12q telomere an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70978565cc5020afae766c5016c7f4b9
Publikováno v:
The American Journal of Human Genetics. 65(6):1785-1790
We are very indebted to the members of the numerous families with nephrotic syndrome, for sharing information and donating tissue samples; without these families this work would have been impossible. We gratefully acknowledge the superb assistance of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06b0217ccd3616882d4ea641d71b0e17
Autor:
Uta Francke, Luis A. Pérez-Jurado, Yu Ker Wang, Tamar Paperna, Michael J. Cisco, Risa Peoples, Yvonne Franke
Publikováno v:
The American Journal of Human Genetics. (1):47-68
Summary Williams-Beuren syndrome (WBS) is a developmental disorder caused by haploinsufficiency for genes in a 2-cM region of chromosome band 7q11.23. With the exception of vascular stenoses due to deletion of the elastin gene, the various features o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf5fe7d7367dca721bc2216cb2400102