Browsing Publicaciones UAX by Author "DiStefano, Marina T."

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ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease Pairs DiStefano, Marina T.; Hemphill, Sarah E.; Oza, Andrea M.; Siegert, Rebecca K.; Grant, Andrew R.; Y. Hughes, Madeline; Cushman, Brandon J.; Azaiez, Hela; Booth, Kevin T.; Chapin, Alex; Duzkale, Hatice; Matsunaga, Tatsuo; Shen, Jun; Zhang, Wenying; Kenna, Margaret; Schimmenti; Tekin, Mustafa; Rehm, Heidi L.; Abou Tayoun, Ahmad N.; Amr, Sami S.; ClinGen Hearing Loss Clinical Domain Working Group; Moreno Pelayo, Miguel Angel Date: 2009-06

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