MMG PUBLICATIONS

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Results: 2278  publications found.

Takada, H.  et al. 2019

Identification of 2,6-Disubstituted 3H-Imidazo[4,5-b]pyridines as Therapeutic Agents for Dysferlinopathies through Phenotypic Screening on Patient-Derived Induced Pluripotent Stem Cells

Dysferlinopathies, which are muscular diseases caused by mutations in the dysferlin gene, remain serious medical problems due to the lack of therapeutic agents. Herein, we report the design,...
J. Med. Chem. - issue: - volume: - pages: .


Fortanier, E.  et al. 2019

Structural Connectivity Alterations in Amyotrophic Lateral Sclerosis: A Graph Theory Based Imaging Study

- issue: - volume: 13 - pages: .


Fortanier, E.  et al. 2019

Structural Connectivity Alterations in Amyotrophic Lateral Sclerosis: A Graph Theory Based Imaging Study

Background: Amyotrophic lateral sclerosis (ALS) is a relentlessly progressive neurodegenerative disorder. Diffusion magnetic resonance imagining (MRI) studies have consistently showed widespread...
- issue: - volume: 13 - pages: .


Kinoshita, J.  et al. 2019

26th Annual Facioscapulohumeral Dystrophy International Research Congress Marseille, France, 19-20 June 2019

Neuromuscul. Disord. - issue: 10 - volume: 29 - pages: 811-817.


Grelet, M.  et al. 2019

SATB2-associated syndrome: first report of a gonadal and somatic mosaicism for an intragenic copy number variation

- issue: 4 - volume: 28 - pages: 205-210.


Suffee-Mosbah, N.  et al. 2019

A subpopulation of epicardium-derived cells are preprogrammed towards fibroblast differentiation in the atrial myocardium

- issue: 1 - volume: 40 - pages: 688.


Kinoshita, J.  et al. 2019

26th Annual Facioscapulohumeral Dystrophy International Research Congress Marseille, France, 19-20 June 2019

- issue: 10 - volume: 29 - pages: 811-817.


Bordet, C.  et al. 2019

Psycho-social impact of predictive genetic testing in hereditary heart diseases (PREDICT Study)

- issue: 2 - volume: 27 - pages: 1317-1318.


Abaji, M.  et al. 2019

A homozygous loss-of-function variant in the TRAPPC2L gene causes a neurodevelopmental disorder overlapping TRAPPC9-related disorder

- issue: 2 - volume: 27 - pages: 1407.


Racine, C.  et al. 2019

Further delineation of O2HE syndrome due to UNC45A biallelic variants and launching of the initiative adopt a gene for UNC45A

- issue: 2 - volume: 27 - pages: 1529-1530.


Wang, Q.  et al. 2019

Characterization of heterozygous PMS2 variants in French patients with Lynch syndrome

- issue: 2 - volume: 27 - pages: 1595.


Gorokhova, S.  et al. 2019

A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports

- issue: 2 - volume: 27 - pages: 1661.


Cuny, T.  et al. 2019

Acromegaly in Carney complex

- issue: 5 - volume: 22 - pages: 456-466.


Mejean, C.  et al. 2019

Chronic hepatitis associated with antiribosomal-P autoantibodies in a 14-year-old girl

- issue: 10 - volume: 7 - pages: 2008-2010.


Kinoshita, J.  et al. 2019

26th Annual Facioscapulohumeral Dystrophy International Research Congress Marseille, France, 19-20 June 2019

- issue: 10 - volume: 29 - pages: 811-817.


Bordet, C.  et al. 2019

Psycho-social impact of predictive genetic testing in hereditary heart diseases (PREDICT Study)

- issue: 2 - volume: 27 - pages: 1317-1318.


Abaji, M.  et al. 2019

A homozygous loss-of-function variant in the TRAPPC2L gene causes a neurodevelopmental disorder overlapping TRAPPC9-related disorder

- issue: 2 - volume: 27 - pages: 1407.


Racine, C.  et al. 2019

Further delineation of O2HE syndrome due to UNC45A biallelic variants and launching of the initiative adopt a gene for UNC45A

- issue: 2 - volume: 27 - pages: 1529-1530.


Wang, Q.  et al. 2019

Characterization of heterozygous PMS2 variants in French patients with Lynch syndrome

- issue: 2 - volume: 27 - pages: 1595.


Gorokhova, S.  et al. 2019

A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports

- issue: 2 - volume: 27 - pages: 1661.