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Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene.
- Published in:
- PLoS Genetics, 2010, v. 6, n. 6, p. 1, doi. 10.1371/journal.pgen.1000991
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- Article
Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.
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- PLoS Genetics, 2022, v. 18, n. 12, p. 1, doi. 10.1371/journal.pgen.1010504
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- Article
Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1796, doi. 10.1002/ajmg.a.61614
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- Article
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2763, doi. 10.1002/ajmg.a.38375
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- Article
Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1170, doi. 10.1002/ajmg.a.36425
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- Article
Co‐occurrence of orofacial clefts and clubfoot phenotypes in a sub‐Saharan African cohort: Whole‐exome sequencing implicates multiple syndromes and genes.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 4, p. 1, doi. 10.1002/mgg3.1655
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- Article