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John Wiley & Sons Inc

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Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies

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John Wiley & Sons Inc

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Homozygous and Compound Heterozygous Mutations at the Werner Syndrome Locus

By Oshima Junko   Yu Chang-En   Piussan Charles   Klein Georg   Jabkowski Jörg   Balci Sevim   Miki Tetsuro   Nakura Jun   Ogihara Toshio   Ells James   Smith Marilia de A. C.   Melaragno Maria I.   Fraccaro Marco   Scappaticci Susi   Matthews John   Ouais Samir   Jarzebowicz Amy   Schellenberg Gerard D.   Martin George M.  

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Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria

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Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia

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John Wiley & Sons Inc

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