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2. Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction

3. Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures

4. Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary toVPS13Bmutations

5. Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1

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