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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 - 3 (of 3 Records)

Query Trace: Syndrome and TTC21B[original query]
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Journal of medical genetics 2011 Feb 48 (2): 105-16.
Otto Edgar A, Ramaswami Gokul, Janssen Sabine, Chaki Moumita, Allen Susan J, Zhou Weibin, Airik Rannar, Hurd Toby W, Ghosh Amiya K, Wolf Matthias T, Hoppe Bernd, Neuhaus Thomas J, Bockenhauer Detlef, Milford David V, Soliman Neveen A, Antignac Corinne, Saunier Sophie, Johnson Colin A, Hildebrandt Friedhelm,
Kidney failure in Bardet-Biedl syndrome.
Clinical genetics 2022 2 101 (4): 429-441.
Meyer Jennifer R, Krentz Anthony D, Berg Richard L, Richardson Jesse G, Pomeroy Jeremy, Hebbring Scott J, Haws Robert
Genetic exploration of Dravet syndrome: two case report.
Journal of medical case reports 2024 4 18 (1): 215.
Agung Triono, Elisabeth Siti Herini, Guna
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