E-LIB Suche - Ergebnisse für: Strom, Tim M.

1

The new missense G376V-TDP-43 variant induces late-onset di..:

Zibold, Julia ; Lessard, Lola E R ; Picard, Flavien...
Brain. 147 (2023) 5 - p. 1768-1783 , 2023

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

2

Alternative splicing of BUD13 determines the severity of a ..:

Kornak, Uwe ; Saha, Namrata ; Keren, Boris...
Genetics in Medicine. 24 (2022) 9 - p. 1927-1940 , 2022

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

3

Lifetime risk of autosomal recessive neurodegeneration with..:

Kolarova, Hana ; Tan, Jing ; Strom, Tim M....
eBioMedicine. 77 (2022) - p. 103869 , 2022

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

4

Clonal hematopoiesis as a pitfall in germline variant inter..:

Brunet, Theresa ; Berutti, Riccardo ; Dill, Veronika...
Human Molecular Genetics. 31 (2022) 14 - p. 2386-2395 , 2022

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

5

Population-based screening in children for early diagnosis ..:

Sanin, Veronika ; Schmieder, Raphael ; Ates, Sara...
Medizinische Genetik. 34 (2022) 1 - p. 41-51 , 2022

Link: https://doi.org/10.1515/..

6

Population-based screening in children for early diagnosis ..:

Sanin, Veronika ; Schmieder, Raphael ; Ates, Sara...
European Journal of Public Health. 32 (2022) 3 - p. 422-428 , 2022

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

7

TBX3 and TBX5 duplication: A family with an atypical overla..:

Cenni, Camille ; Andres, Stephanie ; Hempel, Maja...
European Journal of Medical Genetics. 64 (2021) 7 - p. 104213 , 2021

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

8

A novel homozygous variant in exon 10 of the GALNT3 gene ca..:

Dayal, Devi ; Gupta, Shruti ; Kumar, Rakesh...
Intractable & Rare Diseases Research. 10 (2021) 1 - p. 55-57 , 2021

Link: https://doi.org/10.5582/..

9

Bi-allelic truncating mutations in VWA1 cause neuromyopathy:

Deschauer, Marcus ; Hengel, Holger ; Rupprich, Katrin...
Brain. 144 (2021) 2 - p. 574-583 , 2021

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

10

De novo variants in neurodevelopmental disorders—experience..:

Brunet, Theresa ; Jech, Robert ; Brugger, Melanie...
Clinical Genetics. 100 (2021) 1 - p. 14-28 , 2021

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

11

Erratum to: Biallelic variants in HPDL cause pure and compl..:

Wiessner, Manuela ; Maroofian, Reza ; Ni, Meng-Yuan...
Brain. 144 (2021) 8 - p. e70-e70 , 2021

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

12

Systemic Jak1 activation provokes hepatic inflammation and ..:

Daryadel, Arezoo ; Ruiz, Pedro A. ; Gehring, Nicole...
The FASEB Journal. 35 (2021) 2 - p. , 2021

Link: https://doi.org/10.1096/..

13

Clinically relevant copy-number variants in exome sequencin..:

Zech, Michael ; Boesch, Sylvia ; Škorvánek, Matej...
Parkinsonism & Related Disorders. 84 (2021) - p. 129-134 , 2021

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

14

Biallelic variants in HPDL cause pure and complicated hered..:

Wiessner, Manuela ; Maroofian, Reza ; Ni, Meng-Yuan...
Brain. 144 (2021) 5 - p. 1422-1434 , 2021

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

15

Nine newly identified individuals refine the phenotype asso..:

Windheuser, Isabelle C. ; Becker, Jessica ; Cremer, Kirsten...
American Journal of Medical Genetics Part A. 182 (2020) 5 - p. 1021-1031 , 2020

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