E-LIB Suche - Ergebnisse für: Møller, L. Birk

1

The expanding clinical and genetic spectrum of DYNC1H1-rela..:

Möller, Birk ; Becker, Lena-Luise ; Saffari, Afshin...
Brain. , 2024

2

Ethics in pre-ART genetics: a missed X-linked Menkes diseas..:

Gerdes, A.-M. A. ; Møller, L. Birk ; Horn, N.
Journal of Assisted Reproduction and Genetics. 40 (2023) 4 - p. 811-816 , 2023

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

3

Four novel PDHA1 mutations in pyruvate dehydrogenase defici..:

Ostergaard, E. ; Moller, L. Birk ; Kalkanoglu‐Sivri, H. Serap...
Journal of Inherited Metabolic Disease. 32 (2009) S1 - p. 235-239 , 2009

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

4

Long-term follow-up of a patient with mild tetrahydrobiopte..:

Cerone, R ; Schiaffino, M.C ; Fantasia, A.R...
Molecular Genetics and Metabolism. 81 (2004) 2 - p. 137-139 , 2004

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

5

Generation of induced pluripotent stem cells, KCi005-A deri..:

Jonsgaard Larsen, Lasse ; Elisabeth Hjermind, Lena ; Birk Møller, Lisbeth
Stem Cell Research. 74 (2024) - p. 103279 , 2024

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

6

Generation of induced pluripotent stem cells, KCi004-A deri..:

Jonsgaard Larsen, Lasse ; Birk Møller, Lisbeth
Stem Cell Research. 71 (2023) - p. 103175 , 2023

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

7

Case report: Huppke–Brendel syndrome in an adult, mistaken ..:

Kirk, Frederik Teicher ; Munk, Ditte Emilie ; Ek, Jakob...
Frontiers in Neurology. 13 (2022) - p. , 2022

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

8

Elevated Expression of SLC6A4 Encoding the Serotonin Transp..:

Hildonen, Mathis ; Levy, Amanda M. ; Dahl, Christina...
Genes. 12 (2021) 1 - p. 86 , 2021

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

9

Characterization of ATP7A missense mutants suggests a corre..:

Skjørringe, Tina ; Amstrup Pedersen, Per ; Salling Thorborg, Sidsel...
Scientific Reports. 7 (2017) 1 - p. , 2017

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

10

Progressive cerebellar degenerative changes in the severe m..:

Reardon, William ; Donoghue, Veronica ; Murphy, Anne-Marie...
European Journal of Pediatrics. 169 (2010) 8 - p. 941-949 , 2010

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

11

Behavioural effects of phenylalanine‐free amino acid tablet..:

Kalkanoğlu, H. Serap ; Ahring, Kirsten K. ; Sertkaya, Durdu...
Acta Paediatrica. 94 (2005) 9 - p. 1218-1222 , 2005

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

12

Levodopa‐responsive infantile parkinsonism due to a novel m..:

Diepold, Katharina ; Schütz, Barbara ; Rostasy, Kevin...
Movement Disorders. 20 (2005) 6 - p. 764-767 , 2005

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

13

Genetic Modifiers of Non-Penetrance and RNA Expression Leve..:

Lisbjerg, Kristian ; Grønskov, Karen ; Bertelsen, Mette..
Genes. 14 (2023) 2 - p. 435 , 2023

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

14

Copper:

, In: Handbook on the Toxicology of Metals,

Møller, Lisbeth Birk ; Aaseth, Jan - p. 243-266 , 2022

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

15

Contributors:

, In: Handbook on the Toxicology of Metals,

Aaseth, Jan ; Aggett, Peter ; Aitio, Antero... - p. xxv-xxviii , 2022

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