Search Results - "Mastrorosa, Francesco Kumara"

Applications of long-read sequencing to Mendelian genetics by Mastrorosa, Francesco Kumara, Miller, Danny E, Eichler, Evan E

“…Advances in clinical genetic testing, including the introduction of exome sequencing, have uncovered the molecular etiology for many rare and previously…”
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The Role of Copy Number Variants in Severe Idiopathic Male Infertility by Mastrorosa, Francesco Kumara

“…Very few genetic variants are currently known to cause severe male infertility phenotypes in a dominant fashion. This is explained by an absence of cohorts of…”
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