Nobuhiko Okamoto
Osaka Women's and Children's Hospital
28 papers found
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Phenotypic and mutational spectrum of ROR2 ‐related Robinow syndrome
Download from onlinelibrary.wiley.comSiblings with MAN1B1-CDG Showing Novel Biochemical Profiles
Download from doi.orgEfficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses
Download from onlinelibrary.wiley.comA novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction
UploadPrimary microcephaly caused by novel compound heterozygous mutations in ASPM
Download from www.nature.comA novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features
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