DONNA MUZNY to Genes, Recessive
This is a "connection" page, showing publications DONNA MUZNY has written about Genes, Recessive.
Connection Strength
0.294
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MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med. 2016 11 01; 8(1):106.
Score: 0.121
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Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Hum Mutat. 2022 07; 43(7):900-918.
Score: 0.044
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Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. Am J Med Genet A. 2021 12; 185(12):3593-3600.
Score: 0.040
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Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med. 2014 May; 16(5):386-394.
Score: 0.025
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Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013 Oct 17; 369(16):1502-11.
Score: 0.024
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Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel. Cancer Genet. 2011 Jan; 204(1):19-25.
Score: 0.020
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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010 Apr 01; 362(13):1181-91.
Score: 0.019