E-LIB Suche - Ergebnisse für: Nelson, Stanley F.

1

Transcriptomic analysis of paired healthy human skeletal mu..:

Nieves-Rodriguez, Shirley ; Barthélémy, Florian ; Woods, Jeremy D....
Frontiers in Genetics. 14 (2023) - p. , 2023

2

Elucidation of bioinformatic-guided high-prospect drug repo..:

Ulm, J. Wes ; Barthélémy, Florian ; Nelson, Stanley F.
Frontiers in Cell and Developmental Biology. 11 (2023) - p. , 2023

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

3

RAF1 deficiency causes a lethal syndrome that underscores R..:

Wong, Samantha ; Tan, Yu Xuan ; Loh, Abigail Yi Ting...
EMBO Molecular Medicine. 15 (2023) 5 - p. , 2023

Link: https://doi.org/10.15252..

4

Author Correction: Mutations in PYCR1 cause cutis laxa with..:

Reversade, Bruno ; Escande-Beillard, Nathalie ; Dimopoulou, Aikaterini...
Nature Genetics. 54 (2022) 2 - p. 213-213 , 2022

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

5

INTS13 variants causing a recessive developmental ciliopath..:

Mascibroda, Lauren G. ; Shboul, Mohammad ; Elrod, Nathan D....
Nature Communications. 13 (2022) 1 - p. , 2022

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

6

Downregulation of SATB1 by miRNAs reduces megakaryocyte/ery..:

Wilkes, Mark C. ; Scanlon, Vanessa ; Shibuya, Aya...
Experimental Hematology. 111 (2022) - p. 66-78 , 2022

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

7

Case Report: Whole Exome Sequencing Identifies Compound Het..:

Yang, Jamie O. ; Shaybekyan, Hapet ; Zhao, Yan...
Frontiers in Cardiovascular Medicine. 8 (2022) - p. , 2022

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

8

Evaluating Genetic Modifiers of Duchenne Muscular Dystrophy..:

Barnard, Alison M. ; Hammers, David W. ; Triplett, William T....
Neurology. 99 (2022) 21 - p. , 2022

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

9

RABENOSYN separation-of-function mutations uncouple endosom..:

Paul, Franziska ; Ng, Calista ; Mohamad Sahari, Umar Bin...
Human Molecular Genetics. 31 (2022) 21 - p. 3729-3740 , 2022

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

10

Modeling Patient-Specific Muscular Dystrophy Phenotypes and..:

Barthélémy, Florian ; Santoso, Jeffrey W. ; Rabichow, Laura...
Frontiers in Cell and Developmental Biology. 10 (2022) - p. , 2022

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

11

Single nuclei transcriptomics of muscle reveals intra-muscu..:

Scripture-Adams, Deirdre D. ; Chesmore, Kevin N. ; Barthélémy, Florian...
Communications Biology. 5 (2022) 1 - p. , 2022

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

12

Recessive ciliopathy mutations in primary endocardial fibro..:

Zhao, Yan ; Wang, Lee-kai ; Eskin, Ascia...
Journal of Molecular Medicine. 99 (2021) 11 - p. 1623-1638 , 2021

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

13

EIF3F-related neurodevelopmental disorder: refining the phe..:

UCLA California Center for Rare Disease ; Hüffmeier, Ulrike ; Kraus, Cornelia...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

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

14

Expansion of NEUROD2 phenotypes to include developmental de..:

Mis, Emily K. ; Sega, Annalisa G. ; Signer, Rebecca H....
American Journal of Medical Genetics Part A. 185 (2021) 4 - p. 1076-1080 , 2021

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

15

Variants in PRKAR1B cause a neurodevelopmental disorder wit..:

Marbach, Felix ; Stoyanov, Georgi ; Erger, Florian...
Genetics in Medicine. 23 (2021) 8 - p. 1465-1473 , 2021

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