Results 141 to 150 of about 9,979 (208)

Técnicas de Biología Molecular aplicadas al diagnóstico clínico. Distrofia muscular y talasemias [PDF]

, 1993
Gallano, Pía
core  

Whole-Body Skeletal Muscle MRI Patterns in Female Dystrophinopathy Carriers. [PDF]

Neurol Genet
Vigliano AP, Luce L, Pastor Rueda JM, Chaves H, Mesa L, Carcione M, Mazzanti C, Llames Massini C, Radic CP, Cejas C, Giliberto F.   +10 more
europepmc   +1 more source

First report of PURA syndrome in a Colombian patient with de novo missense variant c.692T>C (p.Phe231Ser) [PDF]

Biomedica
Cerón SM, Pérez DA, Montaño JH, Acosta MA.   +3 more
europepmc   +1 more source

Forma rara de distrofia muscular (ligada ao gene CHKB) identificada através da sequenciação completa do exoma [PDF]

, 2014
Egas, Conceição, Fineza, Isabel, Froufe, Hugo, Gonçalves, Ana Rita, Negrão, Luís, Oliveira, Jorge, Santos, Rosário, Sousa, Mário   +7 more
core  

Profibrotic Molecules Are Reduced in CRISPR-Edited Emery-Dreifuss Muscular Dystrophy Fibroblasts. [PDF]

Cells
Cattin E, Schena E, Mattioli E, Marcuzzo S, Bonanno S, Cavalcante P, Corradi F, Benati D, Farinazzo G, Cattaneo M, De Sanctis V, Bertorelli R, Maggi L, Giannotta M, Pini A, Vattemi G, Cassandrini D, Cavallo M, Manferdini C, Lisignoli G, Fontana B, Pace I, Bruno C, Roncarati R, Fiorillo C, Ferracin M, Schirmer EC, Recchia A, Lattanzi G.   +28 more
europepmc   +1 more source

[Tribute to the Unidad de Investigación Médica en Nutrición]. [PDF]

Rev Med Inst Mex Seguro Soc
Rodríguez-Cruz M.
europepmc   +1 more source

Pharmacological Treatments and Therapeutic Targets in Muscle Dystrophies Generated by Alterations in Dystrophin-Associated Proteins. [PDF]

Medicina (Kaunas)
Luna-Angulo A, Landa-Solís C, Escobar-Cedillo RE, Estrada-Mena FJ, Sánchez-Chapul L, Gómez-Díaz B, Carrillo-Mora P, Avilés-Arnaut H, Jiménez-Hernández L, Jiménez-Hernández DA, Miranda-Duarte A.   +10 more
europepmc   +1 more source

The pathology of vitamin D3 deficiency in the growing Najdi lambs. [PDF]

Braz J Vet Med
Saleh WMM, Alabada HKM, Naeem RM, Alsaad IA, Naji HA.   +4 more
europepmc   +1 more source

Enfermedades genéticas: distrofia muscular de Duchenne

Revista de Medicina y Cine / Journal of Medicine and Movies, 2016
María GARCÍA MORO, Enrique GARCÍA SÁNCHEZ, José Elías GARCÍA SÁNCHEZ   +2 more
openaire   +1 more source

Empowerment of genetic information by women at-risk of being carriers of Duchenne and Becker muscular dystrophies. [PDF]

J Community Genet
Hoefel AML, Weschenfelder CA, Rosa BF, Donis KC, Saute JAM.   +4 more
europepmc   +1 more source