I agree that this site is using cookies. You can find further informations here.
X
Johari, Mridul
76  results:
Search for persons X
?
1

A CCG expansion in ABCD3 causes oculopharyngodistal myopath..:

Cortese, Andrea ; Beecroft, Sarah J. ; Facchini, Stefano...
Nature Communications.  15 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
?
2

Epilepsies with onset during the first year of life: A pros..:

Jonsson, Henna ; Gaily, Eija ; Stjerna, Susanna...
Epilepsia Open.  9 (2024)  4 - p. 1393-1405 , 2024
Link: https://doi.org/10.1002/..
 
?
3

Current advance on distal myopathy genetics:

Ranta-aho, Johanna ; Johari, Mridul ; Udd, Bjarne
Current Opinion in Neurology.  , 2024
Link: https://doi.org/10.1097/..
 
?
4

272nd ENMC international workshop: 10 Years of progress - r..:

Lilleker, James B. ; Naddaf, Elie ; Saris, Christiaan G.J....
Neuromuscular Disorders.  37 (2024)  - p. 36-51 , 2024
Link: https://doi.org/10.1016/..
 
?
5

Structural variant calling and clinical interpretation in 6..:

Demidov, German ; Laurie, Steven ; Torella, Annalaura...
European Journal of Human Genetics.  32 (2024)  8 - p. 998-1004 , 2024
Link: https://doi.org/10.1038/..
 
?
6

Haplotype information of large neuromuscular disease genes ..:

Lehtonen, Johanna ; Sulonen, Anna-Maija ; Almusa, Henrikki...
Scientific Reports.  14 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
?
7

Revealing myopathy spectrum: integrating transcriptional an..:

Zhong, Huahua ; Sian, Veronica ; Johari, Mridul...
Communications Biology.  7 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
?
8

Termination of pregnancy for fetal malformations and severe..:

Kalantari, Silvia ; Silva, Raquel Gouveia ; Johari, Mridul..
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
?
9

Novel Compound Heterozygous Splice-Site Variants in TPM3 Re..:

Pelin, Katarina ; Sagath, Lydia ; Lehtonen, Johanna...
Journal of Neuromuscular Diseases.  10 (2023)  5 - p. 977-984 , 2023
Link: https://doi.org/10.3233/..
 
?
10

Advancing intercontinental collaboration in human genetics:..:

Alimohamed, Mohamed Zahir ; Mnika, Khuthala ; Adadey, Samuel Mawuli...
European Journal of Human Genetics.  32 (2023)  1 - p. 3-5 , 2023
Link: https://doi.org/10.1038/..
 
?
11

The European Society of Human Genetics—Young committee- act..:

Avram, Elena ; Ding, Can ; de Miranda Cerqueira, Juliana Xavier...
European Journal of Human Genetics.  31 (2023)  4 - p. 383-386 , 2023
Link: https://doi.org/10.1038/..
 
?
12

Extension of the DNAJB2a isoform in a dominant neuromyopath..:

Sarparanta, Jaakko ; Jonson, Per Harald ; Reimann, Jens...
Human Molecular Genetics.  32 (2023)  21 - p. 3029-3039 , 2023
Link: https://doi.org/10.1093/..
 
?
13

Genome-wide variant calling in reanalysis of exome sequenci..:

de Boer, Elke ; Yaldiz, Burcu ; Denommé-Pichon, Anne-Sophie...
European Journal of Medical Genetics.  65 (2022)  1 - p. 104402 , 2022
Link: https://doi.org/10.1016/..
 
?
14

Mutation update for theACTN2gene:

Ranta‐aho, Johanna ; Olive, Montse ; Vandroux, Marie...
Human Mutation.  43 (2022)  12 - p. 1745-1756 , 2022
Link: https://doi.org/10.1002/..
 
?
15

Adult‐onset dominant muscular dystrophy in Greek families c..:

Johari, Mridul ; Papadimas, George ; Papadopoulos, Constantinos...
Annals of Clinical and Translational Neurology.  9 (2022)  10 - p. 1660-1667 , 2022
Link: https://doi.org/10.1002/..
 
1-15