CNRGH
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Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents
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CNR-MAJ collaborators. SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease
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EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome
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Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy
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Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
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Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
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17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression
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Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
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Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype.
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