E-LIB Suche - Ergebnisse für: Züchner, Stephan L.

1

Generation of 3 patient induced Pluripotent stem cell lines..:

Yanick, Christopher ; Maciel, Renata ; Jacobs, Elizabeth...
Stem Cell Research. 78 (2024) - p. 103449 , 2024

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

2

The genetic landscape and phenotypic spectrum of GAA-FGF14 ..:

Ouyang, Riwei ; Wan, Linlin ; Pellerin, David...
eBioMedicine. 102 (2024) - p. 105077 , 2024

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

3

Recurrent ATP1A1 variant Gly903Arg causes developmental del..:

Dohrn, Maike F. ; Bademci, Guney ; Rebelo, Adriana P....
Annals of Clinical and Translational Neurology. 11 (2024) 4 - p. 1075-1079 , 2024

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

4

P458: EFEMP1 haploinsufficiency causes a Marfan-like heredi..:

Forghani, Irman ; Lang, Steven ; Tekin, Mustafa...
Genetics in Medicine Open. 2 (2024) - p. 101352 , 2024

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

5

A study concept of expeditious clinical enrollment for gene..:

Xu, Isaac R. L. ; Danzi, Matt C. ; Ruiz, Ariel...
Journal of the Peripheral Nervous System. 29 (2024) 2 - p. 202-212 , 2024

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

6

Gene Distribution in Pediatric-Onset Inherited Peripheral N..:

Kulsirichawaroj, Pimchanok ; Suksangkharn, Yanin ; Nam, Da Eun...
Journal of Neuromuscular Diseases. 11 (2024) 1 - p. 191-199 , 2024

Link: https://doi.org/10.3233/..

7

EFEMP1 haploinsufficiency causes a Marfan‐like hereditary c..:

Forghani, Irman ; Lang, Steven H. ; Rodier, Matthew J....
American Journal of Medical Genetics Part A. 194 (2024) 6 - p. , 2024

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

8

Dominant NARS1 mutations causing axonal Charcot–Marie–Tooth..:

Beijer, Danique ; Marte, Sheila ; Li, Jiaxin C...
Brain Communications. 6 (2024) 2 - p. , 2024

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

9

Testing SIPA1L2 as a modifier of CMT1A using mouse models:

Murray, George C ; Hines, Timothy J ; Tadenev, Abigail L D...
Journal of Neuropathology & Experimental Neurology. 83 (2024) 5 - p. 318-330 , 2024

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

10

Rare homozygous disease-associated sequence variants in chi..:

Li, Limin ; Menezes, Manoj P. ; Smith, Melanie...
Neuromuscular Disorders. 37 (2024) - p. 29-35 , 2024

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

11

RExPRT: a machine learning tool to predict pathogenicity of..:

Fazal, Sarah ; Danzi, Matt C. ; Xu, Isaac...
Genome Biology. 25 (2024) 1 - p. , 2024

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

12

O23: Diagnostic success of genomic analyses in adults with ..:

Bivona, Stephanie ; Smith, Carson ; Bademci, Guney...
Genetics in Medicine Open. 2 (2024) - p. 101018 , 2024

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

13

GAA-FGF14 disease: defining its frequency, molecular basis,..:

Pellerin, David ; Heindl, Felix ; Wilke, Carlo...
eBioMedicine. 102 (2024) - p. 105076 , 2024

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

14

The FGF14GAA repeat expansion in Greek patients with late‐o..:

Kartanou, Chrisoula ; Mitrousias, Alexandros ; Pellerin, David...
Clinical Genetics. 105 (2024) 4 - p. 446-452 , 2024

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

15

Neurological disorders caused by novel non-coding repeat ex..:

Vegezzi, Elisa ; Ishiura, Hiroyuki ; Bragg, D Cristopher...
The Lancet Neurology. 23 (2024) 7 - p. 725-739 , 2024

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