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Elena Dadali

Showing results (31-40 of 38) with videos related to

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International Journal of Molecular Sciences|October 16, 2025
Balanced Translocations Involving the <i>DMD</i> Gene as a Cause of Muscular Dystrophy in Female Children: A Description of Three CasesEkaterina O Vorontsova, Aysylu Murtazina, Elena Zinina, et al.
International Journal of Molecular Sciences|July 27, 2024
A Rare Coincidence of Three Inherited Diseases in a Family with Cardiomyopathy and Multiple Extracardiac AbnormalitiesAnna Bukaeva, Roman Myasnikov, Olga Kulikova, et al.
Nature Genetics|May 4, 2004
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathyOleg V Evgrafov, Irena Mersiyanova, Joy Irobi, et al.
European Journal of Human Genetics : EJHG|June 24, 2020
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging featuresMarcello Scala, Geok Lin Chua, Cheen Fei Chin, et al.
Human Mutation|April 14, 2025
The Missing Piece of the Puzzle: Unveiling the Role of <i>PTPN11</i> Gene in Multiple Osteochondromas in a Large Cohort StudyArtem Borovikov, Nailya Galeeva, Andrey Marakhonov, et al.
Annals of Neurology|August 22, 2023
GABRA1-Related Disorders: From Genetic to Functional PathwaysElisa Musto, Vivian W Y Liao, Katrine M Johannesen, et al.
American Journal of Human Genetics|May 7, 2021
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathyNorine Voisin, Rhonda E Schnur, Sofia Douzgou, et al.
Brain : a Journal of Neurology|August 25, 2021
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implicationsKatrine M Johannesen, Yuanyuan Liu, Mahmoud Koko, et al.
Pageof 4

Showing results (31-40 of 38) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 38 results.
International Journal of Molecular Sciences|October 16, 2025
Balanced Translocations Involving the <i>DMD</i> Gene as a Cause of Muscular Dystrophy in Female Children: A Description of Three CasesEkaterina O Vorontsova, Aysylu Murtazina, Elena Zinina, et al.
International Journal of Molecular Sciences|July 27, 2024
A Rare Coincidence of Three Inherited Diseases in a Family with Cardiomyopathy and Multiple Extracardiac AbnormalitiesAnna Bukaeva, Roman Myasnikov, Olga Kulikova, et al.
Nature Genetics|May 4, 2004
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathyOleg V Evgrafov, Irena Mersiyanova, Joy Irobi, et al.
European Journal of Human Genetics : EJHG|June 24, 2020
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging featuresMarcello Scala, Geok Lin Chua, Cheen Fei Chin, et al.
Human Mutation|April 14, 2025
The Missing Piece of the Puzzle: Unveiling the Role of <i>PTPN11</i> Gene in Multiple Osteochondromas in a Large Cohort StudyArtem Borovikov, Nailya Galeeva, Andrey Marakhonov, et al.
Annals of Neurology|August 22, 2023
GABRA1-Related Disorders: From Genetic to Functional PathwaysElisa Musto, Vivian W Y Liao, Katrine M Johannesen, et al.
American Journal of Human Genetics|May 7, 2021
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathyNorine Voisin, Rhonda E Schnur, Sofia Douzgou, et al.
Brain : a Journal of Neurology|August 25, 2021
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implicationsKatrine M Johannesen, Yuanyuan Liu, Mahmoud Koko, et al.
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