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Your search keyword '"Rump, Patrick"' showing total 7 results

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7 results on '"Rump, Patrick"'

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1. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

2. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

3. Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity

4. Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility

5. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

6. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

7. Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

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