Found: 13
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Interstitial lung disease of infancy caused by a new NKX2-1 mutation.
- Published in:
- Clinical Case Reports, 2017, v. 5, n. 6, p. 739, doi. 10.1002/ccr3.901
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- Article
CORRESPONDENCE.
- Published in:
- Pediatric Dermatology, 1998, v. 15, n. 6, p. 482
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- Article
Mimic for Child Physical Abuse: Biochemical and Genetic Evidence of Hypophosphatasia without Classic Radiologic Findings.
- Published in:
- Case Reports in Pediatrics, 2020, p. 1, doi. 10.1155/2020/3246762
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- Article
Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 16, p. 4272, doi. 10.1093/hmg/ddu144
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- Article
Distant conserved sequences flanking endothelial-specific promoters contain tissue-specific DNase-hypersensitive sites and over-represented motifs.
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- Human Molecular Genetics, 2006, v. 15, n. 13, p. 2098, doi. 10.1093/hmg/ddl133
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- Article
Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex.
- Published in:
- Nature Genetics, 2003, v. 34, n. 2, p. 220, doi. 10.1038/ng1153
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- Article
Breast fibroadenomas in the pediatric population: common and uncommon sonographic findings.
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- Pediatric Radiology, 2010, v. 40, n. 10, p. 1681, doi. 10.1007/s00247-010-1678-7
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- Article
Genotype–phenotype correlations in individuals with pathogenic <italic>RERE</italic> variants.
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- Human Mutation, 2018, v. 39, n. 5, p. 666, doi. 10.1002/humu.23400
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- Article
A novel de novo intragenic duplication in FBN1 associated with early‐onset Marfan syndrome in a 16‐month‐old: A case report and review of the literature.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 368, doi. 10.1002/ajmg.a.63440
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- Article
Presacral neuroendocrine tumors associated with the Currarino syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1582, doi. 10.1002/ajmg.a.62145
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- Article
Genotype–phenotype correlation at codon 1740 of SETD2.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2037, doi. 10.1002/ajmg.a.61724
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- Article
Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2664, doi. 10.1002/ajmg.a.37269
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- Article
De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
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- Human Molecular Genetics, 2022, v. 31, n. 3, p. 440, doi. 10.1093/hmg/ddab265
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- Article