E-LIB Suche - Ergebnisse für: Budde, Birgit S.

1

Biallelic MAD2L1BP (p31comet) mutation is associated with m..:

Abdel-Salam, Ghada M. H. ; Hellmuth, Susanne ; Gradhand, Elise...
JCI Insight. 8 (2023) 22 - p. , 2023

Link: https://doi.org/10.1172/..

2

De novo variants of CSNK2B cause a new intellectual disabil..:

Asif, Maria ; Kaygusuz, Emrah ; Shinawi, Marwan...
Human Genetics and Genomics Advances. 3 (2022) 3 - p. 100111 , 2022

Link: https://doi.org/10.1016/..

3

Comprehensive molecular analysis of 61 Egyptian families wi..:

Budde, Birgit S. ; Aly, Maha Abdelgaber ; Mohamed, Mostafa R....
Clinical Genetics. 98 (2020) 1 - p. 32-42 , 2020

Link: https://doi.org/10.1111/..

4

Biallelic mutation of humanSLC6A6encoding the taurine trans..:

Preising, Markus N. ; Görg, Boris ; Friedburg, Christoph...
The FASEB Journal. 33 (2019) 10 - p. 11507-11527 , 2019

Link: https://doi.org/10.1096/..

5

First confirmatory study on PTPRQ as an autosomal dominant ..:

Oziębło, Dominika ; Sarosiak, Anna ; Leja, Marcin L....
Journal of Translational Medicine. 17 (2019) 1 - p. , 2019

Link: https://doi.org/10.1186/..

6

A hypomorphic BMPR1B mutation causes du Pan acromesomelic d..:

Stange, Katja ; Désir, Julie ; Kakar, Naseebullah...
Orphanet Journal of Rare Diseases. 10 (2015) 1 - p. , 2015

Link: https://doi.org/10.1186/..

7

Skeletal dysplasia in a consanguineous clan from the island..:

Budde, Birgit S. ; Mizumoto, Shuji ; Kogawa, Ryo...
Human Genetics. 134 (2015) 7 - p. 691-704 , 2015

Link: https://doi.org/10.1007/..

8

Enrichment of target sequences for next-generation sequenci..:

Altmüller, Janine ; Budde, Birgit S. ; Nürnberg, Peter
Biological Chemistry. 395 (2013) 2 - p. 231-237 , 2013

Link: https://doi.org/10.1515/..

9

Gsdma3I359N is a novel ENU-induced mutant mouse line for st..:

Kumar, Sudhir ; Rathkolb, Birgit ; Budde, Birgit S....
Journal of Dermatological Science. 67 (2012) 3 - p. 190-192 , 2012

Link: https://doi.org/10.1016/..

10

tRNA splicing endonuclease mutations cause pontocerebellar ..:

Budde, Birgit S ; Namavar, Yasmin ; Barth, Peter G...
Nature Genetics. 40 (2008) 9 - p. 1113-1118 , 2008

Link: https://doi.org/10.1038/..

11

Noncompaction of the Ventricular Myocardium Is Associated w..:

Budde, Birgit S. ; Binner, Priska ; Waldmüller, Stephan...
PLoS ONE. 2 (2007) 12 - p. e1362 , 2007

Link: https://doi.org/10.1371/..

12

Genes from Chagas Susceptibility Loci That Are Differential..:

Graefe, Sebastian E. B. ; Streichert, Thomas ; Budde, Birgit S....
PLoS ONE. 1 (2006) 1 - p. e57 , 2006

Link: https://doi.org/10.1371/..

13

A hypomorphic BMPR1B mutation causes du Pan acromesomelic d..:

Stange, Katja ; Désir, Julie ; Kakar, Naseebullah...
https://refubium.fu-berlin.de/handle/fub188/14925. , 2015

Link: https://refubium.fu-berl..

14

A hypomorphic BMPR1B mutation causes du Pan acromesomelic d..:

Stange, Katja ; Désir, Julie ; Kakar, Naseebullah...
https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/15165. , 2015

Link: https://opus.bibliothek...

15

Biallelic MAD2L1BP (p31comet) mutation is associated with m..:

Ghada M. H. Abdel-Salam ; Susanne Hellmuth ; Elise Gradhand...
https://doi.org/10.1172/jci.insight.170079. , 2023

Link: https://doaj.org/article..