E-LIB Suche - Ergebnisse für: Reintjes, Nadine

1

Expansion of the complex genotypic and phenotypic spectrum ..:

Schmidt, Julia ; Kaulfuß, Silke ; Ott, Hagen...
Human Genetics. 143 (2024) 2 - p. 159-168 , 2024

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

2

TAPT1—at the crossroads of extracellular matrix and signali..:

Etich, Julia ; Semler, Oliver ; Stevenson, Nicola L...
EMBO Molecular Medicine. 15 (2023) 7 - p. , 2023

Link: https://doi.org/10.15252..

3

Characterization of a splice-site mutation in the tumor sup..:

Bartram, Malte P. ; Mishra, Tripti ; Reintjes, Nadine...
BMC Medical Genetics. 18 (2017) 1 - p. , 2017

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

4

A case report on the exceptional coincidence of two inherit..:

Ebner, Kathrin ; Reintjes, Nadine ; Feldkötter, Markus...
Clinical Nephrology. 88 (2017) 7 - p. 45-51 , 2017

Link: https://doi.org/10.5414/..

5

CNNM2 Mutations Cause Impaired Brain Development and Seizur..:

Arjona, Francisco J. ; de Baaij, Jeroen H. F. ; Schlingmann, Karl P....
PLoS Genetics. 10 (2014) 4 - p. e1004267 , 2014

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

6

Normal intelligence and premature ovarian failure in an adu..:

Bartels, Iris ; Pütz, Irene ; Reintjes, Nadine..
European Journal of Medical Genetics. 56 (2013) 8 - p. 458-462 , 2013

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

7

Activating Somatic FGFR2 Mutations in Breast Cancer:

Reintjes, Nadine ; Li, Yun ; Becker, Alexandra...
PLoS ONE. 8 (2013) 3 - p. e60264 , 2013

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

8

TAPT1—at the crossroads of extracellular matrix and signali..:

Etich, Julia ; Semler, Oliver ; Stevenson, Nicola L...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10331569/. , 2023

Link: http://www.ncbi.nlm.nih...

9

TAPT1-at the crossroads of extracellular matrix and signali..:

Etich, Julia ; Semler, Oliver ; Stevenson, Nicola L...
Etich , J , Semler , O , Stevenson , N L , Stephan , A , Besio , R , Garibaldi , N , Reintjes , N , Stephens , D J , Rehberg , M & et , A 2023 , ' TAPT1-at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta ' , EMBO Molecular Medicine , vol. 15 , no. 7 , e17528 . https://doi.org/10.15252/emmm.202317528. , 2023

Link: https://hdl.handle.net/1..

10

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Im..:

Moosa, Shahida ; Yamamoto, Guilherme L ; Garbes, Lutz...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6817720/. , 2019

Link: http://www.ncbi.nlm.nih...

11

Novel findings in patients with primary hyperoxaluria type ..:

Beck, Bodo B ; Baasner, Anne ; Buescher, Anja...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548260. , 2013

Link: http://www.ncbi.nlm.nih...

12

TAPT1—at the crossroads of extracellular matrix and signali..:

Julia Etich ; Oliver Semler ; Nicola L Stevenson...
https://doi.org/10.15252/emmm.202317528. , 2023

Link: https://doi.org/10.15252..

13

Characterization of a splice-site mutation in the tumor sup..:

Malte P. Bartram ; Tripti Mishra ; Nadine Reintjes...
http://link.springer.com/article/10.1186/s12881-017-0416-5. , 2017

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

14

CNNM2 mutations cause impaired brain development and seizur..:

Francisco J Arjona ; Jeroen H F de Baaij ; Karl P Schlingmann...
http://europepmc.org/articles/PMC3974678?pdf=render. , 2014

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

15

Activating somatic FGFR2 mutations in breast cancer:

Nadine Reintjes ; Yun Li ; Alexandra Becker...
http://europepmc.org/articles/PMC3603931?pdf=render. , 2013

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