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Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement
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- Journal Article
- A1
- open access
IQSEC2 disorder : a new disease entity or a Rett spectrum continuum?
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A clinical scoring system for congenital contractural arachnodactyly
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- Journal Article
- A1
- open access
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care
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- Journal Article
- A1
- open access
Neuroimaging findings in Mowat-Wilson syndrome : a study of 54 patients
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The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects
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Haploinsufficiency of TAB2 causes congenital heart defects in humans