E-LIB Suche - Ergebnisse für: Brennenstuhl, Heiko

1

Hao‐Fountain syndrome: 32 novel patients reveal new insight..:

Wimmer, Moritz Claudius ; Brennenstuhl, Heiko ; Hirsch, Steffen...
Clinical Genetics. 105 (2024) 5 - p. 499-509 , 2024

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

2

Comparative analysis of gene and disease selection in genom..:

Betzler, Isabel R. ; Hempel, Maja ; Mütze, Ulrike...
Journal of Inherited Metabolic Disease. , 2024

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

3

The continuously evolving phenotype of succinic semialdehyd..:

Julia‐Palacios, Natalia Alexandra ; Kuseyri Hübschmann, Oya ; Olivella, Mireia...
Journal of Inherited Metabolic Disease. 47 (2024) 3 - p. 447-462 , 2024

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

4

Absence of the RING domain inMID1results in patterning defe..:

Frank, Sarah ; Gabassi, Elisa ; Käseberg, Stephan...
Life Science Alliance. 7 (2024) 4 - p. e202302288 , 2024

Link: https://doi.org/10.26508..

5

aRgus: Multilevel visualization of non-synonymous single nu..:

Schröter, Julian ; Dattner, Tal ; Hüllein, Jennifer...
Computational and Structural Biotechnology Journal. 21 (2023) - p. 1077-1083 , 2023

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

6

Genotypic and phenotypic spectrum of infantile liver failur..:

Vogel, Georg F. ; Mozer-Glassberg, Yael ; Landau, Yuval E....
Genetics in Medicine. 25 (2023) 6 - p. 100314 , 2023

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

7

Genotypic and phenotypic spectrum of infantile liver failur..:

Vogel, Georg F. ; Mozer-Glassberg, Yael ; Landau, Yuval E....
Genetics in Medicine. 25 (2023) 6 - p. 100828 , 2023

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

8

Gene therapy for aromatic L‐amino acid decarboxylase defici..:

Roubertie, Agathe ; Opladen, Thomas ; Brennenstuhl, Heiko...
Journal of Inherited Metabolic Disease. 47 (2023) 3 - p. 463-475 , 2023

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

9

Vernetzte Versorgung – heute und in 10 Jahren; Networked ca..:

Vogel, Tim ; Albertowski, Anne Sophie ; Bienenstein, Evelyn...
Monatsschrift Kinderheilkunde. 171 (2023) 9 - p. 804-812 , 2023

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

10

Genomisches Neugeborenenscreening – Forschungsansätze, Hera..:

Brennenstuhl, Heiko ; Schaaf, Christian P.
Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz. 66 (2023) 11 - p. 1232-1242 , 2023

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

11

Unmet Needs of Parents of Children with Urea Cycle Disorder:

Scharping, Mara ; Brennenstuhl, Heiko ; Garbade, Sven F....
Children. 9 (2022) 5 - p. 712 , 2022

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

12

Complementing the phenotypical spectrum of TUBA1A tubulinop..:

Schröter, Julian ; Popp, Bernt ; Brennenstuhl, Heiko...
European Journal of Human Genetics. 30 (2022) 3 - p. 298-306 , 2022

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

13

Erratum zu: Die intrazerebrale Gentherapie des Aromatischen..:

Opladen, Thomas ; Brennenstuhl, Heiko ; Kuseyri Hübschmann, Oya...
Monatsschrift Kinderheilkunde. , 2022

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

14

Die intrazerebrale Gentherapie des Aromatischen-L-Aminosäur..:

Opladen, Thomas ; Brennenstuhl, Heiko ; Kuseyri Hübschmann, Oya...
Monatsschrift Kinderheilkunde. 169 (2021) 8 - p. 738-747 , 2021

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

15

The "Young Metabolic Society": An interest group for young ..:

Brennenstuhl, Heiko ; Christ, Stine ; Kock, Vanessa
Journal of Inherited Metabolic Disease. 44 (2021) 4 - p. 789-789 , 2021

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