E-LIB Suche - Ergebnisse für: Netzer, Christian

1

Corneal Infantile Myofibromatosis Caused by Novel Activatin..:

Howaldt, Antonia ; Lenglez, Sandrine ; Velmans, Clara...
Ophthalmology Science. 4 (2024) 3 - p. 100444 , 2024

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

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

Delineation of the adult phenotype of Coffin–Siris syndrome..:

Schmetz, Ariane ; Lüdecke, Hermann-Josef ; Surowy, Harald...
Human Genetics. 143 (2023) 1 - p. 71-84 , 2023

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

4

P196: GestaltMatcher Database: A FAIR database for medical ..:

Lesmann, Hellen ; Moosa, Shahida ; Pantel, Tori...
Genetics in Medicine Open. 1 (2023) 1 - p. 100225 , 2023

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

5

Genetic counseling in times of genomic analyses – current a..:

Morlot, Susanne ; Netzer, Christian
Medizinische Genetik. 33 (2021) 1 - p. 1-2 , 2021

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

6

Carrier testing for autosomal recessive disorders: a look a..:

Netzer, Christian ; Velmans, Clara ; Erger, Florian.
Medizinische Genetik. 33 (2021) 1 - p. 13-19 , 2021

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

7

Osteogenesis imperfecta—pathophysiology and therapeutic opt..:

Etich, Julia ; Leßmeier, Lennart ; Rehberg, Mirko...
Molecular and Cellular Pediatrics. 7 (2020) 1 - p. , 2020

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

8

Site-specificity of bone quality in a patient with osteogen..:

Stürznickel, Julian ; Delsmann, Maximilian ; Semler, Oliver...
Bone Reports. 13 (2020) - p. 100317 , 2020

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

9

Osteogenesis imperfecta – Pathophysiologie und aktuelle Beh..:

Rehberg, Mirko ; Etich, Julia ; Leßmeier, Lennart...
Medizinische Genetik. 31 (2020) 4 - p. 372-382 , 2020

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

10

Which genes to assess in the NGS diagnostics of intellectua..:

Erger, Florian ; Schaaf, Christian P. ; Netzer, Christian
Molecular and Cellular Probes. 45 (2019) - p. 84-88 , 2019

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

11

Individualized treatment with denosumab in children with os..:

Hoyer-Kuhn, Heike ; Rehberg, Mirko ; Netzer, Christian..
Orphanet Journal of Rare Diseases. 14 (2019) 1 - p. , 2019

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

12

Large-scale deletions of the ABCA1 gene in patients with hy..:

Dron, Jacqueline S. ; Wang, Jian ; Berberich, Amanda J....
Journal of Lipid Research. 59 (2018) 8 - p. 1529-1535 , 2018

Link: https://doi.org/10.1194/..

13

Uniparental isodisomy as a cause of recessive Mendelian dis..:

Erger, Florian ; Burau, Karin ; Elsässer, Michael...
European Journal of Human Genetics. 26 (2018) 9 - p. 1392-1395 , 2018

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

14

A heritable microduplication encompassing TBL1XR1 causes a ..:

Riehmer, Vera ; Erger, Florian ; Herkenrath, Peter...
American Journal of Medical Genetics Part A. 173 (2017) 8 - p. 2132-2138 , 2017

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

15

CRTAP variants in early‐onset osteoporosis and recurrent fr..:

Costantini, Alice ; Vuorimies, Ilkka ; Mäkitie, Riikka...
American Journal of Medical Genetics Part A. 173 (2016) 3 - p. 806-808 , 2016

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