Found: 16
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Clinical phenotype of the 16p.13.11 microdeletion: a case report with a mini review of the literature.
- Published in:
- Frontiers in Genetics, 2024, p. 01, doi. 10.3389/fgene.2024.1429185
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- Article
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37057-z
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- Article
Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
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- 2023
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- Correction Notice
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37057-z
- By:
- Publication type:
- Article
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
- Published in:
- Nature Communications, 2023, v. 14, p. 1, doi. 10.1038/s41467-023-37057-z
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- Publication type:
- Article
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1499, doi. 10.1038/ejhg.2015.19
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- Article
A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features.
- Published in:
- Genes, 2023, v. 14, n. 12, p. 2194, doi. 10.3390/genes14122194
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- Article
12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.
- Published in:
- Genes, 2022, v. 13, n. 5, p. 780, doi. 10.3390/genes13050780
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- Article
Cytogenetic and Array-CGH Characterization of a Simple Case of Reciprocal t(3;10) Translocation Reveals a Hidden Deletion at 5q12.
- Published in:
- Genes, 2021, v. 13, n. 6, p. 877, doi. 10.3390/genes12060877
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- Article
Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 3, p. 425, doi. 10.1111/cge.13890
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- Article
Novel exostosin‐2 missense variants in a family with autosomal recessive exostosin‐2‐related syndrome: further evidences on the phenotype.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 1, p. 165, doi. 10.1111/cge.13458
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- Article
The hyperornithinemia-hyperammonemiahomocitrullinuria syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0242-9
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- Article
Genetic Pattern, Orthodontic and Surgical Management of Multiple Supplementary Impacted Teeth in a Rare, Cleidocranial Dysplasia Patient: A Case Report.
- Published in:
- Medicina (1010660X), 2021, v. 57, n. 12, p. 1350, doi. 10.3390/medicina57121350
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- Article
Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 9, p. 1389, doi. 10.1093/hmg/ddab320
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- Article
14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1289
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- Article
Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 5, p. N.PAG, doi. 10.1002/mgg3.634
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- Article