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Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy |
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Titel: |
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy |
Auteur: |
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 |
Verschenen in: |
Journal of neuromuscular diseases |
Paginering: |
Jaargang 11 () nr. 3 pagina's 647-653 |
Jaar: |
2024-04-30 |
Inhoud: |
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Uitgever: |
IOS Press, Amsterdam |
Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
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