Search

Author/Creator Wieacker, Peter

1. Advances in the Molecular Pathophysiology, Genetics, and Treatment of Primary Ovarian Insufficiency. (June 2018)

Authors:
Huhtaniemi, Ilpo; Hovatta, Outi; La Marca, Antonio; Livera, Gabriel; Monniaux, Danielle; Persani, Luca; Heddar, Abdelkader; Jarzabek, Katarzyna; Laisk-Podar, Triin; Salumets, Andres; Tapanainen, Juha S.; Veitia, Reiner A.; Visser, Jenny A.; Wieacker, Peter; Wolczynski, Slawomir; Misrahi, Micheline
Journal:
Trends in endocrinology and metabolism
Issue:
Volume 29:Number 6(2018)
Page Start:
400
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. ANKRD11 variants: KBG syndrome and beyond. Issue 2 (14th May 2021)

Authors:
Parenti, Ilaria; Mallozzi, Mark B.; Hüning, Irina; Gervasini, Cristina; Kuechler, Alma; Agolini, Emanuele; Albrecht, Beate; Baquero‐Montoya, Carolina; Bohring, Axel; Bramswig, Nuria C.; Busche, Andreas; Dalski, Andreas; Guo, Yiran; Hanker, Britta; Hellenbroich, Yorck; Horn, Denise; Innes, A. Mich...
Journal:
Clinical genetics
Issue:
Volume 100:Issue 2(2021)
Page Start:
187
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46, XY or 46, XX disorder of sex development. Issue 4 (20th January 2015)

Authors:
Kim, Gwang-Jin; Sock, Elisabeth; Buchberger, Astrid; Just, Walter; Denzer, Friederike; Hoepffner, Wolfgang; German, James; Cole, Trevor; Mann, Jillian; Seguin, John H; Zipf, William; Costigan, Colm; Schmiady, Hardi; Rostásy, Moritz; Kramer, Mildred; Kaltenbach, Simon; Rösler, Bernd; Georg, Ina; T...
Journal:
Journal of medical genetics
Issue:
Volume 52:Issue 4(2015)
Page Start:
240
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Elevated annexin A5 plasma levels in term pregnancies of M2/ANXA5 carriers. Issue 156 (August 2017)

Authors:
Ang, Kai-Cheen; Kathirgamanathan, Sushilnathan; Ch'ng, Ewe Seng; Abdullah, Wan Zaidah; Yusoff, Narazah Mohd; Jahnke, Charlotte Marie; Schmitz, Ralf; Bogdanova, Nadja; Wieacker, Peter; Tang, Thean Hock; Markoff, Arseni
Journal:
Thrombosis research
Issue:
Issue 156(2017)
Page Start:
87
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. – Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele. (13th November 2012)

Authors:
Schoner, Katharina; Kohlhase, Juergen; Müller, Annette M.; Schramm, Thomas; Plassmann, Margit; Schmitz, Ralf; Neesen, Juergen; Wieacker, Peter; Rehder, Helga
Journal:
Prenatal diagnosis
Issue:
Volume 33:Number 1(2013:Jan.)
Page Start:
75
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. M2/ANXA5 haplotype as a predisposition factor in Malay women and couples experiencing recurrent spontaneous abortion: a pilot study. Issue 4 (April 2015)

Authors:
Thean Hock, Tang; Bogdanova, Nadja; Kai Cheen, Ang; Kathirgamanathan, Sushilnathan; bin Abdullah, Ridzuan; Mohd Yusoff, Narazah; Zaidah Abdullah, Wan; Syima Abdul Manaf, Faizatul; Wieacker, Peter; Markoff, Arseni
Journal:
Reproductive biomedicine online
Issue:
Volume 30:Issue 4(2015)
Page Start:
434
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗