DUCHENNE MUSCULAR DYSTROPHY - GENETICS von Foncuberta, M., Lubieniecki, F., Gravina, L., González Quereda, L., Gallano, P., Chertkoff, L., Monges, S.

Volltext

DUCHENNE MUSCULAR DYSTROPHY - GENETICS: P.212Mutational spectrum of the DMD gene in pediatric patients from an Argentinian referral center von Foncuberta, M., Lubieniecki, F., Gravina, L., González Quereda, L., Gallano, P., Chertkoff, L., Monges, S.

Volltext

13 Mannose binding lectin gene as a modifier of cystic fibrosis phenotype in Argentinian pediatric patients von Crespo, C, Giugno, H, Gravina, L.P, Mangano, A, Chertkoff, L, Castaños, C

Volltext

Change in prevalence of congenital defects in children with Prader-Willi syndrome von Torrado, M, Foncuberta, M E, Perez, M F de Castro, Gravina, L P, Araoz, H V, Baialardo, E, Chertkoff, L P

Volltext

WS21.04 Molecular characterisation of the CFTR gene in the Argentinian population: impact of local variants in the sensitivity of genetic testing von Crespo, C., Giugno, H., Gomez, A.I., Aschettino, G., Piergrossi, N., Juanes, M., Chertkoff, L., Castaños, C., Gravina, L.P.

Volltext

G.P.145 von Monges, S, Lubieniecki, F, de Castro, F, Lafuente, V, Gonzalez, M, Reyes, G, Chertkoff, L, Quijano-Roy, S, Romero, N.B, Richard, P, Bonne, G, Guicheney, P, Sacolitti, M, Taratuto, A.L

Volltext

P010 In the era of CFTR modulators, does newborn screening detect cystic fibrosis patients with residual function mutations? von Crespo, C., Giugno, H., Dratler, G., Chertkoff, L., Castaños, C., Gravina, L.P.

Volltext

G.P.145: LMNA-related muscular dystrophies: Clinical and histopathological spectrum in Argentina von Monges, S., Lubieniecki, F., de Castro, F., Lafuente, V., Gonzalez, M., Reyes, G., Chertkoff, L., Quijano-Roy, S., Romero, N.B., Richard, P., Bonne, G., Guicheney, P., Sacolitti, M., Taratuto, A.L.

Volltext

MITOCHONDRIAL DISEASES (Posters): P.192Severe isolated mitochondrial myopathy in childhood von Loos, M., Aráoz, H., Lubieniecki, F., Taratuto, A., Caraballo, R., Chertkoff, L., Monges, S.

Volltext

MITOCHONDRIAL DISEASES (Posters) von Loos, M., Aráoz, H., Lubieniecki, F., Taratuto, A., Caraballo, R., Chertkoff, L., Monges, S.

Volltext

EP.63Clinical, pathological, and molecular findings in Argentine patients with nonsense mutations in the DMD gene von Foncuberta, M., Lubieniecki, F., Gallo, A., Crespo, A., Mozzoni, J., de Castro, F., Aguerre, V., Araoz, V., Chertkoff, L., Gravina, P., Monges, S.

Volltext

SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES von Monges, S., Mozzoni, J., Franchi, M., Medrano, S., Gravina, L., Aráoz, H., de Castro, F., Aguerre, V., Alías, L., Chertkoff, L., Tizzano, E., Bernal, S.

Volltext

SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES: P.84Clinical discordance in spinal muscular atrophy siblings: the exception or the rule? von Monges, S., Mozzoni, J., Franchi, M., Medrano, S., Gravina, L., Aráoz, H., de Castro, F., Aguerre, V., Alías, L., Chertkoff, L., Tizzano, E., Bernal, S.

Volltext

Diagnosis Value of a Pediatric Clinical Score for the Diagnosis of the Fragile X Syndrome von Torrado, M, Herrera, J, Chertkoff, L, Tenembaum, S, Bin, L, Barreiro, C

Volltext

A combination of five short tandem repeats of chromosome 15 significantly improves the identification of Prader-Willi syndrome etiology in the Argentinean population von Aráoz, H V, Torrado, M, Barreiro, C, Chertkoff, L

Volltext

Baseline Characteristics of Patients With Fabry Disease Enrolled in the Pegunigalsidase Alfa Expanded-Access Program: FR-PO339 von Mehta, Ankit, Wilcox, William, Nedd, Khan J., Bernat, John A., Knoll, Jasmine, Jefferies, John L., Longo, Nicola, Wallace, Eric L., Almon, Einat, Alon, Sari, Chertkoff, Raul, Sullivan, Dawn, Rocco, Rossana, Koulinska, Irene, Goker-Alpan, Ozlem

Volltext

Complete screening of the CFTR gene in Argentine cystic fibrosis patients von Visich, A, Zielenski, J, Castaños, C, Diez, G, Grenoville, M, Segal, E, Barreiro, C, Tsui, L-C, Chertkoff, L

Volltext

High specificity of head circumference to recognize N540K mutation in hypochondroplasia von Fano, Virginia, Gravina, Luis Pablo, Pino, Mariana Del, Chertkoff, Lilien, Barreiro, Cristina, Lejarraga, Horacio

Volltext

Complete nucleotide sequence of a genomic clone encoding HLA-B35 isolated from a Caucasian individual of hispanic origin identification of a new variant of HLA-B35 von Chertkoff, Lilien P., Herrera, Mariana, Fainboim, Leonardo, Leonardo Satz, M.

Volltext

Late proton magnetic resonance spectroscopy following traumatic brain injury during early childhood: relationship with neurobehavioral outcomes von Walz, Nicolay Chertkoff, Cecil, Kim M, Wade, Shari L, Michaud, Linda J

Volltext