E-LIB Suche - Ergebnisse für: Kohlschmidt, Nicolai

1

Bi-allelic variants of FILIP1 cause congenital myopathy, dy..:

Roos, Andreas ; van der Ven, Peter F M ; Alrohaif, Hadil...
Brain. 146 (2023) 10 - p. 4200-4216 , 2023

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

2

Correction: A Homozygous PPP1R21 Splice Variant Associated ..:

Hentschel, Andreas ; Meyer, Nancy ; Kohlschmidt, Nicolai...
Molecular Neurobiology. 60 (2023) 7 - p. 4164-4164 , 2023

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

3

A clustering of heterozygous missense variants in the cruci..:

Snijders Blok, Lot ; Verseput, Jolijn ; Rots, Dmitrijs...
Human Genetics and Genomics Advances. 4 (2023) 1 - p. 100157 , 2023

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

4

AHomozygous PPP1R21 Splice Variant Associated with Severe D..:

Hentschel, Andreas ; Meyer, Nancy ; Kohlschmidt, Nicolai...
Molecular Neurobiology. 60 (2023) 5 - p. 2602-2618 , 2023

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

5

Novel insights into PORCN mutations, associated phenotypes ..:

Arlt, Annabelle ; Kohlschmidt, Nicolai ; Hentschel, Andreas...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

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

6

Identification of a novel homozygoussynthesis of cytochrome..:

Gangfuß, Andrea ; Hentschel, Andreas ; Rademacher, Nina...
Human Mutation. 43 (2022) 4 - p. 477-486 , 2022

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

7

Proteomic and morphological insights and clinical presentat..:

Gangfuß, Andrea ; Hentschel, Andreas ; Heil, Lorena...
Molecular Genetics and Metabolism. 136 (2022) 3 - p. 226-237 , 2022

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

8

Molecular pathophysiology of human MICU1 deficiency:

Kohlschmidt, Nicolai ; Elbracht, Miriam ; Czech, Artur...
Neuropathology and Applied Neurobiology. 47 (2021) 6 - p. 840-855 , 2021

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

9

Phenotypical and Myopathological Consequences of Compound H..:

Della Marina, Adela ; Arlt, Annabelle ; Schara-Schmidt, Ulrike...
Cells. 10 (2021) 12 - p. 3481 , 2021

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

10

Cancer incidence and spectrum among children with genetical..:

Cöktü, Sümeyye ; Spix, Claudia ; Kaiser, Melanie...
British Journal of Cancer. 123 (2020) 4 - p. 619-623 , 2020

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

11

Clinical presentation and proteomic signature of patients w..:

Mingirulli, Nadja ; Pyle, Angela ; Hathazi, Denisa...
Journal of Inherited Metabolic Disease. 43 (2019) 2 - p. 297-308 , 2019

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

12

Muscle Pathology as a Diagnostic Clue to Allgrove Syndrome:

Reimann, Jens ; Kohlschmidt, Nicolai ; Tolksdorf, Karen...
Journal of Neuropathology & Experimental Neurology. 76 (2017) 5 - p. 337-341 , 2017

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

13

Familial tetrasomy 4q35.2 associated with congenital diaphr..:

Bogs, Thomas ; Kipfmüller, Florian ; Kohlschmidt, Nicolai...
Journal of Medical Case Reports. 10 (2016) 1 - p. , 2016

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

14

Monozygotic twins discordant for constitutiveBRCA1promoter ..:

Galetzka, Danuta ; Hansmann, Tamara ; El Hajj, Nady...
Epigenetics. 7 (2012) 1 - p. 47-54 , 2012

Link: https://doi.org/10.4161/..

15

Reduced mRNA and Protein Expression of the Genomic Caretake..:

Weis, Eva ; Schoen, Holger ; Victor, Anja...
PLoS ONE. 6 (2011) 10 - p. e25750 , 2011

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