Found: 5
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Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema.
- Published in:
- Science Translational Medicine, 2022, v. 14, n. 634, p. 1, doi. 10.1126/scitranslmed.abm4869
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- Article
matchbox: An open‐source tool for patient matching via the Matchmaker Exchange.
- Published in:
- Human Mutation, 2018, v. 39, n. 12, p. 1827, doi. 10.1002/humu.23655
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- Article
Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6.
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- NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0103-x
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- Article
Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1‐related syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1273, doi. 10.1002/ajmg.a.61541
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- Article
Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia.
- Published in:
- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00911-4
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- Article