E-LIB Suche - Ergebnisse für: Romero, Norma B

1

Functional benefit of CRISPR-Cas9-induced allele deletion f..:

Beaufils, Mathilde ; Melka, Margaux ; Brocard, Julie...
Molecular Therapy - Nucleic Acids. 35 (2024) 3 - p. 102259 , 2024

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

2

Generation of two iPSC lines from patients with inherited c..:

Clayton, Joshua S. ; Vo, Christina ; Crane, Jordan...
Stem Cell Research. 77 (2024) - p. 103410 , 2024

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

3

Generation of two iPSC lines from adult central core diseas..:

Clayton, Joshua S. ; Vo, Christina ; Crane, Jordan...
Stem Cell Research. 77 (2024) - p. 103411 , 2024

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

4

Pathogenic DPAGT1 variants in limb‐girdle congenital myasth..:

vanden Brande, Laura ; Bauché, Stéphanie ; Pérez‐Guàrdia, Laura...
Neuropathology and Applied Neurobiology. 50 (2024) 1 - p. , 2024

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

5

Generation of iPSC lines from three Laing distal myopathy p..:

Clayton, Joshua S. ; Vo, Christina ; Crane, Jordan...
Stem Cell Research. 80 (2024) - p. 103491 , 2024

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

6

Diagnostic work-up and phenotypic characteristics of a fami..:

Dabaj, Ivana ; Carlier, Robert Y. ; Dieterich, Klaus...
Frontiers in Genetics. 13 (2023) - p. , 2023

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

7

Clinical and functional characterization of a long survivor..:

Cardone, Nastasia ; Moula, Melissa ; Baelde, Rianne J....
Acta Neuropathologica Communications. 11 (2023) 1 - p. , 2023

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

8

Generation of two induced pluripotent stem cell lines from ..:

Driver, Karrison ; Vo, Christina ; Scriba, Carolin K....
Stem Cell Research. 73 (2023) - p. 103258 , 2023

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

9

Human skeletal myopathy myosin mutations disrupt myosin hea..:

Carrington, Glenn ; Hau, Abbi ; Kosta, Sarah...
JCI Insight. 8 (2023) 21 - p. , 2023

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

10

Caveolae and Bin1 form ring-shaped platforms for T-tubule i..:

Lemerle, Eline ; Lainé, Jeanne ; Benoist, Marion...
eLife. 12 (2023) - p. , 2023

Link: https://doi.org/10.7554/..

11

Generation of two isogenic induced pluripotent stem cell li..:

Suleski, Isabella S. ; Smith, Robert ; Vo, Christina...
Stem Cell Research. 63 (2022) - p. 102830 , 2022

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

12

Congenital Nemaline Myopathy with Dense Protein Masses:

Bevilacqua, Jorge A ; Malfatti, Edoardo ; Labasse, Clémence...
Journal of Neuropathology & Experimental Neurology. 81 (2022) 4 - p. 304-307 , 2022

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

13

Novel autosomal dominant TPM3 mutation causes a combined co..:

Bevilacqua, Jorge A. ; Contreras, Juan Pablo ; Trangulao, Alejandra...
Neuromuscular Disorders. 32 (2022) 8 - p. 687-691 , 2022

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

14

Generation of an induced pluripotent stem cell line from a ..:

Clayton, Joshua S. ; Suleski, Isabella ; Vo, Christina...
Stem Cell Research. 63 (2022) - p. 102829 , 2022

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

15

Severe ACTA1-related nemaline myopathy: intranuclear rods, ..:

Labasse, Clémence ; Brochier, Guy ; Taratuto, Ana-Lia...
Acta Neuropathologica Communications. 10 (2022) 1 - p. , 2022

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