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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
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Implementation of fetal clinical exome sequencing : comparing prospective and retrospective cohorts
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- Journal Article
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Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenital
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- Journal Article
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IQSEC2 disorder : a new disease entity or a Rett spectrum continuum?
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- Miscellaneous
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Arterial tortuosity syndrome : 40 new families and literature review (vol 20, pg 1236, 2017)
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Arterial tortuosity syndrome : 40 new families and literature review
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- Journal Article
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POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism
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- Journal Article
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Phenotypic and molecular insights into CASK-related disorders in males
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Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene
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- Journal Article
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Morphological spectrum and clinical features of myopathies with tubular aggregates