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  • Identification of the Meckel syndrome gene (MKS1) exposes a novel ciliopathy
    Abnormalities, Multiple, Chromosomes, Human, Pair 17, Encephalocele, Genetic Diseases, Inborn, Genome, Human, Meningocele, Mutation, Polycystic Kidney, Autosomal Recessive, Polydactyly, Proteome, epämuodostumat, geenivirheet, kehityshäiriöt, Meckelin oireyhtymä, perinnölliset taudit, missbildningar, gendefekter, utvecklingsstörningar, Meckels syndrom, ärftliga sjukdomar, Academic Dissertations, väitöskirjat, e-böcker, doktorsavhandlingar
    Kyttälä, Mira
    Read
  • Molecular genetics of Meckel syndrome : ciliary genes are defective in MKS
    Abnormalities, Multiple, Calcium Signaling, Calcium-Binding Proteins, Cilia, Ciliary Motility Disorders, Congenital Abnormalities, Fetal Diseases, Genetic Predisposition to Disease, Motor Neuron Disease, Mutation, Nucleocytoplasmic Transport Proteins, Pedigree, Polymorphism, Single Nucleotide, RNA, Messenger, epämuodostumat, geenivirheet, Meckelin oireyhtymä, molekyyligenetiikka, missbildningar, gendefekter, Meckels syndrom, molekylärgenetik, Academic Dissertations, väitöskirjat, e-böcker, doktorsavhandlingar
    Tallila, Jonna
    Read
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