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Buiting, Karin
149
results:
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Online (148)
Print (1)
Mediatypes
Books (1)
Articles (Online) (80)
Bookchapter (Online) (1)
OpenAccess-fulltext (67)
Languages
german (2)
english (141)
Sorted by: Relevance
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1
Renal X-inactivation in female individuals with X-linked Al..:
Günthner, Roman
;
Knipping, Lea
;
Jeruschke, Stefanie
...
Frontiers in Medicine. 9 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
?
2
Cover:
Sassi, Hela
;
Elaribi, Yasmina
;
Jilani, Houweyda
...
Molecular Genetics & Genomic Medicine. 9 (2021) 10 - p. , 2021
Link:
https://doi.org/10.1002/..
?
3
Beckwith–Wiedemann syndrome: Clinical, histopathological an..:
Sassi, Hela
;
Elaribi, Yasmina
;
Jilani, Houweyda
...
Molecular Genetics & Genomic Medicine. 9 (2021) 10 - p. , 2021
Link:
https://doi.org/10.1002/..
?
4
Common genetic variation in the Angelman syndrome imprintin..:
Beygo, Jasmin
;
Grosser, Christian
;
Kaya, Sabine
...
European Journal of Human Genetics. 28 (2020) 6 - p. 835-839 , 2020
Link:
https://doi.org/10.1038/..
?
5
Disruption of KCNQ1 prevents methylation of the ICR2 and su..:
Beygo, Jasmin
;
Bürger, Joachim
;
Strom, Tim M.
..
European Journal of Human Genetics. 27 (2019) 6 - p. 903-908 , 2019
Link:
https://doi.org/10.1038/..
?
6
Update of the EMQN/ACGS best practice guidelines for molecu..:
Beygo, Jasmin
;
Buiting, Karin
;
Ramsden, Simon C.
...
European Journal of Human Genetics. 27 (2019) 9 - p. 1326-1340 , 2019
Link:
https://doi.org/10.1038/..
?
7
Resistance to GHRH but Not to PTH in a 15-Year-Old Boy With..:
Munteanu, Martin
;
Kiewert, Cordula
;
Matar, Nora
...
Journal of the Endocrine Society. 3 (2019) 7 - p. 1383-1389 , 2019
Link:
https://doi.org/10.1210/..
?
8
Recommendations for a nomenclature system for reporting met..:
Monk, David
;
Morales, Joannella
;
den Dunnen, Johan T.
...
Epigenetics. 13 (2018) 2 - p. 117-121 , 2018
Link:
https://doi.org/10.1080/..
?
9
The origin of imprinting defects in Temple syndrome and com..:
Beygo, Jasmin
;
Mertel, Claudia
;
Kaya, Sabine
...
Epigenetics. 13 (2018) 8 - p. 822-828 , 2018
Link:
https://doi.org/10.1080/..
?
10
The maternal uniparental disomy of chromosome 6 (upd(6)mat)..:
Eggermann, Thomas
;
Oehl‐Jaschkowitz, Barbara
;
Dicks, Severin
...
Molecular Genetics & Genomic Medicine. 5 (2017) 6 - p. 668-677 , 2017
Link:
https://doi.org/10.1002/..
?
11
Atypical Angelman syndrome due to a mosaic imprinting defec..:
Le Fevre, Anna
;
Beygo, Jasmin
;
Silveira, Cheryl
...
American Journal of Medical Genetics Part A. 173 (2017) 3 - p. 753-757 , 2017
Link:
https://doi.org/10.1002/..
?
12
New insights into the imprinted MEG8-DMR in 14q32 and clini..:
Beygo, Jasmin
;
Küchler, Alma
;
Gillessen-Kaesbach, Gabriele
...
European Journal of Human Genetics. 25 (2017) 8 - p. 935-945 , 2017
Link:
https://doi.org/10.1038/..
?
13
Novel microdeletions on chromosome 14q32.2 suggest a potent..:
van der Werf, Ilse M
;
Buiting, Karin
;
Czeschik, Christina
...
European Journal of Human Genetics. 24 (2016) 12 - p. 1724-1729 , 2016
Link:
https://doi.org/10.1038/..
?
14
A maternal deletion upstream of the imprint control region ..:
Beygo, Jasmin
;
Joksic, Ivana
;
Strom, Tim M
...
European Journal of Human Genetics. 24 (2016) 9 - p. 1280-1286 , 2016
Link:
https://doi.org/10.1038/..
?
15
EMQN best practice guidelines for the molecular genetic tes..:
Eggermann, Katja
;
Bliek, Jet
;
Brioude, Frédéric
...
European Journal of Human Genetics. 24 (2016) 10 - p. 1377-1387 , 2016
Link:
https://doi.org/10.1038/..
1-15