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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 20, 2025. (Total: 235500Documents)
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Query Trace: Holoprosencephaly and DISP1[original query]
Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.
Human genetics 2010 1 127 (4): 421-40.
Rosenfeld Jill A, Ballif Blake C, Martin Donna M, Aylsworth Arthur S, Bejjani Bassem A, Torchia Beth S, Shaffer Lisa
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.
Human mutation 2016 Jul .
Dubourg Christèle, Carré Wilfrid, Hamdi-Rozé Houda, Mouden Charlotte, Roume Joëlle, Abdelmajid Benmansour, Amram Daniel, Baumann Clarisse, Chassaing Nicolas, Coubes Christine, Faivre-Olivier Laurence, Ginglinger Emmanuelle, Gonzales Marie, Levy-Mozziconacci Annie, Lynch Sally-Ann, Naudion Sophie, Pasquier Laurent, Poidvin Amélie, Prieur Fabienne, Sarda Pierre, Toutain Annick, Dupé Valérie, Akloul Linda, Odent Sylvie, de Tayrac Marie, David Véroniq
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