E-LIB Suche - Ergebnisse für: Hauer, Nadine N.

1

Evolutionary conserved networks of human height identify mu..:

Hauer, Nadine N. ; Popp, Bernt ; Taher, Leila...
European Journal of Human Genetics. 27 (2019) 7 - p. 1061-1071 , 2019

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

2

Mutations in PIK3C2A cause syndromic short stature, skeleta..:

Tiosano, Dov ; Baris, Hagit N. ; Chen, Anlu...
PLOS Genetics. 15 (2019) 4 - p. e1008088 , 2019

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

3

Clinical relevance of systematic phenotyping and exome sequ..:

Hauer, Nadine N. ; Popp, Bernt ; Schoeller, Eva...
Genetics in Medicine. 20 (2018) 6 - p. 630-638 , 2018

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

4

Genetic screening confirms heterozygous mutations in ACAN a..:

Hauer, Nadine N. ; Sticht, Heinrich ; Boppudi, Sangamitra...
Scientific Reports. 7 (2017) 1 - p. , 2017

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

5

MAP4-Dependent Regulation of Microtubule Formation Affects ..:

Zahnleiter, Diana ; Hauer, Nadine N. ; Kessler, Kristin...
Human Mutation. 36 (2014) 1 - p. 87-97 , 2014

Link: https://doi.org/10.1002/..

6

Evolutionary conserved networks of human height identify mu..:

Hauer, Nadine N ; Popp, Bernt ; Taher, Leila...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777496/. , 2019

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

7

Mutations in PIK3C2A cause syndromic short stature, skeleta..:

Tiosano, Dov ; Baris, Hagit N ; Chen, Anlu...
https://research.rug.nl/en/publications/e8bcbfcf-80aa-4dff-be70-663326dd7e38. , 2019

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

8

Mutations in PIK3C2A cause syndromic short stature, skeleta..:

Tiosano, Dov ; Baris, Hagit N ; Chen, Anlu...
https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/11800. , 2019

Link: https://opus4.kobv.de/op..

9

Clinical relevance of systematic phenotyping and exome sequ..:

Hauer, Nadine N ; Popp, Bernt ; Schoeller, Eva...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993671/. , 2018

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

10

Genetic screening confirms heterozygous mutations in ACAN a..:

Hauer, Nadine N ; Sticht, Heinrich ; Boppudi, Sangamitra...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5610314/. , 2017

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

11

Mutations in PIK3C2A cause syndromic short stature, skeleta..:

Dov Tiosano ; Hagit N Baris ; Anlu Chen...
https://doi.org/10.1371/journal.pgen.1008088. , 2019

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

12

A rare mechanism of tachycardia and aberrancy:

Ramanna, Hemanth ; van Driel, Vincent J. ; van Wessel, Harry..
HeartRhythm Case Reports. 4 (2018) 10 - p. 447-450 , 2018

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

13

Functional missense and splicing variants in the retinoic a..:

Montalbano, Antonino ; Juergensen, Lonny ; Fukami, Maki...
European Journal of Human Genetics. 26 (2018) 8 - p. 1113-1120 , 2018

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

14

Prolonged Electromechanical Interval Unmasks Arrhythmogenic..:

MAST, THOMAS P. ; TESKE, ARCO J. ; TE RIELE, ANNELINE SJM...
Journal of Cardiovascular Electrophysiology. 27 (2016) 3 - p. 303-314 , 2016

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

15

Clinical characterisation and risk stratification of patien..:

van der Pols, M. J. ; Mast, T. P. ; Loh, P....
Netherlands Heart Journal. 24 (2016) 12 - p. 740-747 , 2016

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