Lerman-Sagie, Tally
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8

Utility of genetic testing in children with leukodystrophy:

Zerem, Ayelet ; Libzon, Stephanie ; Ben Sira, Liat...
European Journal of Paediatric Neurology.  45 (2023)  - p. 29-35 , 2023
 
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Detailed Analysis of ITPR1 Missense Variants Guides Diagnos..:

Tolonen, Jussi Pekka ; Parolin Schnekenberg, Ricardo ; McGowan, Simon...
https://discovery.ucl.ac.uk/id/eprint/10181855/1/Detailed%20Analysis%20of%20ITPR1%20Missense%20Variants%20Guides.pdf.  , 2023
 
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Hereditary orotic aciduria identified by newborn screening:

Orna Staretz-Chacham ; Nadirah S. Damseh ; Suha Daas...
https://www.frontiersin.org/articles/10.3389/fgene.2023.1135267/full.  , 2023
 
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