I agree that this site is using cookies. You can find further informations here.
X
Heiko Brennenstuhl
63  results:
Search for persons X
?
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

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/..
 
?
3

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..
 
?
4

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/..
 
?
5

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/..
 
?
6

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/..
 
?
7

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/..
 
?
8

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/..
 
?
9

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/..
 
?
10

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/..
 
?
11

Erratum zu: Die intrazerebrale Gentherapie des Aromatischen..:

Opladen, Thomas ; Brennenstuhl, Heiko ; Kuseyri Hübschmann, Oya...
Monatsschrift Kinderheilkunde.  , 2022
Link: https://doi.org/10.1007/..
 
?
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

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/..
 
?
14

Phenotypic diversity, disease progression, and pathogenicit..:

Brennenstuhl, Heiko ; Nashawi, Mohammed ; Schröter, Julian...
Journal of Inherited Metabolic Disease.  44 (2021)  5 - p. 1272-1287 , 2021
Link: https://doi.org/10.1002/..
 
?
15

Gemeinsam stark – für eine bessere Kinder- und Jugendmedizi..:

Eckhardt, Iris ; Merbecks, Moritz B. ; Jacobi, Simon F....
Monatsschrift Kinderheilkunde.  169 (2021)  11 - p. 1083-1087 , 2021
Link: https://doi.org/10.1007/..
 
1-15