Хайлтын үр дүнгүүд - Adeline Paimboeuf

Biallelic variants in <i>GTF3C3</i> encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish -н Mohamed S. Abdel‐Hamid, Adeline Paimboeuf, Maha S. Zaki, Fernanda Barbosa Figueiredo, Sherif F. Abdel‐Ghafar, Sabrina Maher, Rún Friðriksdóttir, Patrick Sulem, Hákon Björn Högnason, Sigrún Hallgrímsdóttir, Catarina Falleiros Nogueira Rojas, Fernando Kok, Mohnish Suri, César Augusto Pinheiro Ferreira Alves, Henry Houlden, Reza Maroofian, Shunmoogum A. Patten

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Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction -н Niccolò E. Mencacci, Georgia Minakaki, Reza Maroofian, Raffaella De Pace, Adeline Paimboeuf, P. V. R. SHANNON, David Chitayat, Francesca Magrinelli, Wesley Peng, Diptaman Chatterjee, Sara H. El‐Dessouky, Júlia Baptista, Tamás Marton, Julie Vogt, Juan Darío Ortigoza‐Escobar, Loreto Martorell, Marta Gómez‐Chiari, Ingrid M. Wentzensen, Erik‐Jan Kamsteeg, Maha S. Zaki, Annarita Scardamaglia, Giovanni Zifarelli, Zuhair N. Al‐Hassnan, Elka Miller, Shiri Shinar, Lova S. Matsa, Sri Hari Chandan Appikonda, Michael Schwake, Mariasavina Severino, Henry Houlden, Shunmoogum A. Patten, Juan S. Bonifacino, Kailash P. Bhatia, Dimitri Krainc

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