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Case series of congenital pseudarthrosis of the tibia unfulfilling neurofibromatosis type 1 diagnosis: 21% with somatic NF1 haploinsufficiency in the periosteum.
- Published in:
- Human Genetics, 2022, v. 141, n. 8, p. 1371, doi. 10.1007/s00439-021-02429-2
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- Article
Mutant B3GALT6 in a Multiplex Family: A Dominant Variant Co-Segregated With Moderate Malformations.
- Published in:
- Frontiers in Genetics, 2022, p. 1, doi. 10.3389/fgene.2022.824445
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- Article
A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 1, p. 1, doi. 10.1002/mgg3.1850
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- Article
A comprehensive value-based method for new nuclear medical service pricing: with case study of radium [223<sup>Ra</sup>] bone metastases treatment.
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- BMC Health Services Research, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12913-024-10777-8
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- Article
Disorder of Sexual Development Males With XYY in Blood Have Exactly X/XY/XYY Mosaicism in Gonad Tissues.
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- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.616693
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- Article
Survival Outcomes of Hemoperfusion and Hemodialysis versus Hemodialysis in Patients with End-Stage Renal Disease: A Systematic Review and Meta-Analysis.
- Published in:
- Blood Purification, 2022, v. 51, n. 3, p. 213, doi. 10.1159/000514187
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- Article