E-LIB Suche - Ergebnisse für: Kunstmann, Erdmute

1

Rare cause of occlusive retinal vasculopathy; Seltene Ursac..:

Nattmann, Anja ; Kunstmann, Erdmute ; Gernert, Michael.
Die Ophthalmologie. 121 (2023) 2 - p. 141-145 , 2023

2

A nonsense mutation in SUFU associated with multiple infund..:

Dege, Tassilo ; Maurus, Katja ; Kneitz, Hermann...
JDDG: Journal der Deutschen Dermatologischen Gesellschaft. 21 (2023) 11 - p. 1396-1398 , 2023

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

3

Nonsense‐Mutation in SUFU ist mit multiplen infundibulozyst..:

Dege, Tassilo ; Maurus, Katja ; Kneitz, Hermann...
JDDG: Journal der Deutschen Dermatologischen Gesellschaft. 21 (2023) 11 - p. 1396-1398 , 2023

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

4

A case report of Sanfilippo syndrome – the long way to diag..:

Lorenz, Delia ; Musacchio, Thomas ; Kunstmann, Erdmute...
BMC Neurology. 22 (2022) 1 - p. , 2022

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

5

Untersuchungen zur Informationsweitergabe in Familien mit e..:

Scholl, Eva Elena , 2021

Link: https://nbn-resolving.de..

6

New Insights on Genetic Diagnostics in Cardiomyopathy and A..:

Kolokotronis, Konstantinos ; Pluta, Natalie ; Klopocki, Eva...
Journal of Clinical Medicine. 9 (2020) 7 - p. 2168 , 2020

Link: https://doi.org/10.3390/..

7

Heterogeneous phenotypes in families with duplications of t..:

Eggermann, Thomas ; Kraft, Florian ; Kloth, Katja...
Clinical Genetics. 98 (2020) 4 - p. 418-419 , 2020

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

8

Untersuchung der Korrelation von Genotyp und Phänotyp bei ..:

Engel, Jakob , 2019

Link: https://nbn-resolving.de..

9

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/..

10

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/..

11

Use of Targeted High-Throughput Sequencing for Genetic Clas..:

Andres, Oliver ; König, Eva-Maria ; Althaus, Karina...
TH Open. 2 (2018) 4 - p. e445-e454 , 2018

Link: https://doi.org/10.1055/..

12

Painful Charcot-Marie-Tooth neuropathy type 2E/1F due to a ..:

Doppler, Kathrin ; Kunstmann, Erdmute ; Krüger, Stefan.
Muscle & Nerve. 55 (2017) 5 - p. 752-755 , 2017

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

13

Mutation Detection in Patients with Retinal Dystrophies Usi..:

Weisschuh, Nicole ; Mayer, Anja K. ; Strom, Tim M....
PLOS ONE. 11 (2016) 1 - p. e0145951 , 2016

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

14

ALS and MMN mimics in patients with BSCL2 mutations: the ex..:

Musacchio, Thomas ; Zaum, Ann-Kathrin ; Üçeyler, Nurcan...
Journal of Neurology. 264 (2016) 1 - p. 11-20 , 2016

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

15

Parkinson's disease in GTP cyclohydrolase 1 mutation carrie..:

Mencacci, Niccolò E. ; Isaias, Ioannis U. ; Reich, Martin M....
Brain. 137 (2014) 9 - p. 2480-2492 , 2014

Link: https://doi.org/10.1093/..