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502 results for your search :
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The ADNP-related disorder spectrum: expanding the neurophysiologic and epileptic phenotype
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Ring chromosome 22 and risk for NF2-related tumours
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Clinical description and possible treatment of Warburg-Cinotti syndrome, caused by activating mutations of DDR
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Clinical phenotype and genotypic spectrum of MYMX-related Carey-Fineman-Ziter syndrome
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BCDS Natural History
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Electroclinical and Genetic characterization of SETD5-related epilepsy
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CIZ1 neurodevelopmental disoders
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TBX1 associated phenotypes
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Clinical and genetic characterization of the MET-related Arthrogryposis – Call for collaboration