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

1

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/..

2

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/..

3

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/..

4

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/..

5

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/..

6

The genetic basis of early-onset hereditary ataxia in Iran:..:

Mahdieh, Nejat ; Heidari, Morteza ; Rezaei, Zahra...
Human Genomics. 18 (2024) 1 - p. , 2024

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

7

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/..

8

Whole genome sequencing increases the diagnostic rate in Ch..:

Record, Christopher J ; Pipis, Menelaos ; Skorupinska, Mariola...
Brain. , 2024

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

9

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/..

10

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/..

11

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/..

12

Spinocerebellar ataxia 27B: A novel, frequent and potential..:

Pellerin, David ; Danzi, Matt C. ; Renaud, Mathilde...
Clinical and Translational Medicine. 14 (2024) 1 - p. , 2024

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

13

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/..

14

Bi-allelic variants in RINT1 present as early-onset pure he..:

Quiroz, Vicente ; Planas-Serra, Laura ; Sveden, Abigail...
Journal of Clinical Investigation. , 2024

Link: https://doi.org/10.1172/..

15

Loss of Fic causes progressive neurodegeneration in a Droso..:

Lobato, Amanda G. ; Ortiz-Vega, Natalie ; Canic, Tijana...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1870 (2024) 7 - p. 167348 , 2024

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