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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Hearing Loss and ALMS1[original query]
Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.
Human mutation 2007 Nov 28 (11): 1114-23.
Marshall Jan D, Hinman Elizabeth G, Collin Gayle B, Beck Sebastian, Cerqueira Rita, Maffei Pietro, Milan Gabriella, Zhang Weidong, Wilson David I, Hearn Tom, Tavares Purificação, Vettor Roberto, Veronese Caterina, Martin Mitchell, So W Venus, Nishina Patsy M, Naggert Jürgen
Neurocognitive assessment and DNA sequencing expand the phenotype and genotype spectrum of Alström syndrome.
American journal of medical genetics. Part A 2021 1 185 (3): 732-742.
Dassie Francesca, Lorusso Riccardina, Benavides-Varela Silvia, Milan Gabriella, Favaretto Francesca, Callus Edward, Cagnin Stefano, Reggiani Francesco, Minervini Giovanni, Tosatto Silvio, Vettor Roberto, Semenza Carlo, Maffei Piet
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