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- Journal Article
- A1
- open access
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
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- Journal Article
- A1
- open access
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
- A1
- open access
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenital
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- Journal Article
- A1
- open access
Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy
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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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Temple-Baraitser syndrome: a rare and possibly unrecognized condition
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Mesomelic Dysplasia With Acral Synostoses Verloes-David-Pfeiffer Type: Follow-Up Study Documents Progressive Clinical Course
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Hartsfield Holoprosencephaly-Ectrodactyly Syndrome in Five Male Patients: Further Delineation and Review
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Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation