E-LIB Suche - Ergebnisse für: Manuela Pendziwiat

1

KCNT2‐Related Disorders: Phenotypes, Functional, and Pharma..:

Cioclu, Maria Cristina ; Mosca, Ilaria ; Ambrosino, Paolo...
Annals of Neurology. 94 (2023) 2 - p. 332-349 , 2023

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

2

KCNC2 variants of uncertain significance are also associate..:

Seiffert, Simone ; Pendziwiat, Manuela ; Hedrich, Ulrike B. S....
Frontiers in Neurology. 14 (2023) - p. , 2023

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

3

Spectrum of Phenotypic, Genetic, and Functional Characteris..:

Schwarz, Niklas ; Seiffert, Simone ; Pendziwiat, Manuela...
Neurology. 98 (2022) 20 - p. , 2022

Link: https://doi.org/10.1212/..

4

Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 b..:

Seiffert, Simone ; Pendziwiat, Manuela ; Bierhals, Tatjana...
eBioMedicine. 83 (2022) - p. 104234 , 2022

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

5

PIGNencephalopathy: Characterizing the epileptology:

Bayat, Allan ; de Valles‐Ibáñez, Guillem ; Pendziwiat, Manuela...
Epilepsia. 63 (2022) 4 - p. 974-991 , 2022

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

6

Whole exome sequencing and co‐expression analysis identify ..:

Hammer, Michael F. ; Pan, Yanling ; Cumbay, Medhane...
Epilepsia. 63 (2022) 8 - p. 1970-1980 , 2022

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

7

Agammaglobulinemia with normal B-cell numbers in a patient ..:

Kury, Patrick ; Staniek, Julian ; Wegehaupt, Oliver...
Journal of Allergy and Clinical Immunology. 147 (2021) 5 - p. 1977-1980 , 2021

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

8

Evidence for pathogenicity of variant ATM Val1729Leu in a f..:

Shalash, Ali S. ; Rösler, Thomas W. ; Salama, Mohamed...
neurogenetics. 22 (2021) 2 - p. 143-147 , 2021

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

9

Deep-Phenotyping the Less Severe Spectrum of PIGT Deficienc..:

Bayat, Allan ; Pendziwiat, Manuela ; Obersztyn, Ewa...
Frontiers in Genetics. 12 (2021) - p. , 2021

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

10

Phenotypic and genetic spectrum of epilepsy with myoclonic ..:

Tang, Shan ; Addis, Laura ; Smith, Anna...
Epilepsia. 61 (2020) 5 - p. 995-1007 , 2020

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

11

Whole‐exome and HLA sequencing in Febrile infection‐related..:

Helbig, Ingo ; Barcia, Giulia ; Pendziwiat, Manuela...
Annals of Clinical and Translational Neurology. 7 (2020) 8 - p. 1429-1435 , 2020

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

12

Semantic Similarity Analysis Reveals Robust Gene-Disease Re..:

Galer, Peter D. ; Ganesan, Shiva ; Lewis-Smith, David...
The American Journal of Human Genetics. 107 (2020) 4 - p. 683-697 , 2020

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

13

Early infantile epileptic encephalopathy due to biallelic p..:

Johnstone, Devon L. ; Nguyen, Thi Tuyet Mai ; Zambonin, Jessica...
Journal of Inherited Metabolic Disease. 43 (2020) 6 - p. 1321-1332 , 2020

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

14

Lessons learned from 40 novel PIGA patients and a review of..:

Bayat, Allan ; Knaus, Alexej ; Pendziwiat, Manuela...
Epilepsia. 61 (2020) 6 - p. 1142-1155 , 2020

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

15

PIGT-CDG, a disorder of the glycosylphosphatidylinositol an..:

Bayat, Allan ; Knaus, Alexej ; Juul, Annika Wollenberg...
Genetics in Medicine. 21 (2019) 10 - p. 2216-2223 , 2019

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