E-LIB Suche - Ergebnisse für: Hehr, Ute

1

Activation and Purification of ß‐Glucocerebrosidase by Expl..:

Dobert, Jan Philipp ; Bub, Simon ; Mächtel, Rebecca...
Advanced Science. , 2024

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

2

Congenital ichthyosiform erythroderma with epidermolysis du..:

Kurz, Bernadett ; Koschitzki, Kevin-Thomas ; Hehr, Ute...
JAAD Case Reports. 35 (2023) - p. 74-76 , 2023

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

3

Functional and clinical analysis of five EDA variants assoc..:

Gökdere, Sare ; Schneider, Holm ; Hehr, Ute...
Frontiers in Genetics. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

4

Handlungsempfehlungen nach der Leitlinie Klassifikation und..:

Kaindl, Angela M. ; Hennermann, Julia B. ; Niller, Hans H....
Monatsschrift Kinderheilkunde. 170 (2022) 10 - p. 929-933 , 2022

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

5

An alternative splicing modulator decreases mutant HTT and ..:

Krach, Florian ; Stemick, Judith ; Boerstler, Tom...
Nature Communications. 13 (2022) 1 - p. , 2022

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

6

Secondary hemophagocytic lymphohistiocytosis and severe liv..:

Lubnow, Matthias ; Schmidt, Barbara ; Fleck, Martin...
International Journal of Infectious Diseases. 103 (2021) - p. 624-627 , 2021

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

7

MFSD2A-associated primary microcephaly - Expanding the clin..:

Khuller, Katharina ; Yigit, Gökhan ; Martínez Grijalva, Carolina...
European Journal of Medical Genetics. 64 (2021) 10 - p. 104310 , 2021

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

8

Further evidence for POMK as candidate gene for WWS with me..:

Paul, Luisa ; Rupprich, Katrin ; Della Marina, Adela...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020

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

9

Defining the phenotypical spectrum associated with variants..:

Brock, Stefanie ; Vanderhasselt, Tim ; Vermaning, Sietske...
Journal of Medical Genetics. 58 (2020) 1 - p. 33-40 , 2020

Link: https://doi.org/10.1136/..

10

International consensus recommendations on the diagnostic w..:

Oegema, Renske ; Barakat, Tahsin Stefan ; Wilke, Martina...
Nature Reviews Neurology. 16 (2020) 11 - p. 618-635 , 2020

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

11

CARASIL with coronary artery disease and distinct cerebral ..:

Müller, Sebastian J ; Khadhraoui, Eya ; Allam, Ibrahim...
Clinical and Translational Neuroscience. 4 (2020) 1 - p. 2514183X2091418 , 2020

Link: https://doi.org/10.1177/..

12

Clinical long-time course, novel mutations and genotype-phe..:

Geis, Tobias ; Rödl, Tanja ; Topaloğlu, Haluk...
Orphanet Journal of Rare Diseases. 14 (2019) 1 - p. , 2019

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

13

The mutational and phenotypic spectrum of TUBA1A-associated..:

Hebebrand, Moritz ; Hüffmeier, Ulrike ; Trollmann, Regina...
Orphanet Journal of Rare Diseases. 14 (2019) 1 - p. , 2019

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

14

Präimplantationsdiagnostik für monogene Erkrankungen am PID..:

Hehr, Andreas ; Paulmann, Bernd ; Gassner, Claudia...
Medizinische Genetik. 31 (2019) 3 - p. 266-274 , 2019

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

15

Varying Patterns of CNS Imaging in Influenza A Encephalopat..:

Dadak, Mete ; Pul, Refik ; Lanfermann, Heinrich...
Clinical Neuroradiology. 30 (2019) 2 - p. 243-249 , 2019

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