التفاصيل البيبلوغرافية
| العنوان: |
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy. |
| المؤلفون: |
Estévez-Arias, Berta, Matalonga, Leslie, Martorell, Loreto, Codina, Anna, Ortez, Carlos, Carrera-García, Laura, Expósito-Escudero, Jessica, Yubero, Delia, Hoenicka, Janet, Jou, Cristina, Palau, Francesc, Beltran, Sergi, Lochmüller, Hanns, Töpf, Ana, Nascimento, Andrés, Natera-de Benito, Daniel |
| المصدر: |
Journal of Neuromuscular Diseases; 2024, Vol. 11 Issue 3, p647-653, 7p |
| قاعدة البيانات: |
Complementary Index |
