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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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- Journal Article
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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
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IGF1 haploinsufficiency in children with short stature : a case series
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Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy
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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423 : genotype-phenotype study in neurofibromatosis type 1
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- Journal Article
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Genotype-phenotype correlation in NF1 : evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848
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Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
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Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome