Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Ingrid Braulke"'
Publikováno v:
ResearcherID
Down syndrome, the most common birth defect causing mental retardation, is characterized by a specific phenotype including subfertility or sterility and hypogonadism in males. In contrast, several females with Down syndrome have borne offspring. Here
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::057ad899247c1a81c237aba057582671
https://doi.org/10.1111/j.1399-0004.1994.tb04171.x
https://doi.org/10.1111/j.1399-0004.1994.tb04171.x
Autor:
Heinrich Köstering, Eberhard Günther, Peter Melloh, Michael Pruggmayer, B. Hinney, Ingrid Braulke
Publikováno v:
Fertility and Sterility. 59:98-101
Objective To examine the possible association between factor XII (FXII) deficiency and an elevated number of abortions. Design Factor XII activity, FXII antigen concentration, other blood clotting parameters, and phospholipid antibodies were examined
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1a4a911024f486088ebd6661e79dad4
https://doi.org/10.1016/s0015-0282(16)55622-2
https://doi.org/10.1016/s0015-0282(16)55622-2
Publikováno v:
Gynäkologie und Geburtshilfe 1992 ISBN: 9783642778582
Der aktivierte Faktor XII (FXIIc; Hageman Faktor) spielt eine zentrale Rolle im Kontaktsystem der Blutgerinnung, bei der Fibrinolyse sowie der Kinin-Formation (1). Patienten mit einem angeborenen FXIIc-Mangel (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::58ae4646fa77db98961f874c89c109fb
https://doi.org/10.1007/978-3-642-77857-5_45
https://doi.org/10.1007/978-3-642-77857-5_45
Autor:
Jochen Reiss, Ryszard Słomski, Ingrid Braulke, Jean-Pierre Colombo, Elisabeth Schröder, Claudia Behrend
Publikováno v:
Human Genetics. 89
A girl with ornithine transcarbamylase (OTC) deficiency was investigated for molecular and cytogenetic abnormalities that might explain this phenotype. Analysis with polymorphic DNA markers indicated that the patient did not inherit paternal alleles
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::225ab06f859e53e02a3e735c124ddc48
https://doi.org/10.1007/bf00221953
https://doi.org/10.1007/bf00221953
Publikováno v:
Clinical genetics. 39(4)
The Holt-Oram syndrome was diagnosed in four offspring of three mothers and the same unaffected father. One additional child lacked the characteristic clinical features of the Holt-Oram syndrome. In contrast to the general autosomal dominant inherita
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8d99fcc235d0f917f9fd7f963a38618
https://pubmed.ncbi.nlm.nih.gov/2070544
https://pubmed.ncbi.nlm.nih.gov/2070544