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3. Genotype-phenotype correlations in ocular manifestations of Marinesco–Sjögren syndrome: Case report and literature review. Issue 3 (May 2022)

4. Genotype–phenotype correlation in seven motor neuron disease families with novel ALS2 mutations. Issue 2 (5th November 2020)

6. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1. Issue 1 (2nd January 2021)

7. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1. Issue 1 (2nd January 2021)

8. PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic‐dyskinetic encephalopathy. Issue 9 (25th July 2022)

9. Use of whole exome sequencing in the NICU: Case of an extremely low birth weight infant with syndromic features. (June 2019)