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Author/Creator Fattal, Aviva

1. De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features. Issue 12 (14th May 2020)

Authors:
Lehalle, Daphné; Vabres, Pierre; Sorlin, Arthur; Bierhals, Tatjana; Avila, Magali; Carmignac, Virginie; Chevarin, Martin; Torti, Erin; Abe, Yuichi; Bartolomaeus, Tobias; Clayton-Smith, Jill; Cogné, Benjamin; Cusco, Ivon; Duplomb, Laurence; De Bont, Eveline; Duffourd, Yannis; Duijkers, Floor; Elpe...
Journal:
Journal of medical genetics
Issue:
Volume 57:Issue 12(2020)
Page Start:
808
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy. Issue 8 (28th July 2021)

Authors:
Yechieli, Michal; Gulsuner, Suleyman; Ben-Pazi, Hilla; Fattal, Aviva; Aran, Adi; Kuzminsky, Alla; Sagi, Liora; Guttman, Dafna; Schneebaum Sender, Nira; Gross-Tsur, Varda; Klopstock, Tehila; Walsh, Tom; Renbaum, Paul; Zeligson, Sharon; Shemer Meiri, Lilach; Lev, Dorit; Shmueli, Dorit; Blumkin, Lub...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 8(2022)
Page Start:
759
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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