Found: 16
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First Report of a Deletion Encompassing an Entire Exon in the Homogentisate 1,2-Dioxygenase Gene Causing Alkaptonuria.
- Published in:
- PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0106948
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- Publication type:
- Article
Duplication of C7orf58, WNT16 and FAM3C in an Obese Female with a t(7;22)(q32.1;q11.2) Chromosomal Translocation and Clinical Features Resembling Coffin-Siris Syndrome.
- Published in:
- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0052353
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- Publication type:
- Article
Homozygous Deletion of Six Olfactory Receptor Genes in a Subset of Individuals with Beta-Thalassemia.
- Published in:
- PLoS ONE, 2011, v. 6, n. 2, p. 1, doi. 10.1371/journal.pone.0017327
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- Article
Leptin and Reproduction.
- Published in:
- Nutrition Reviews, 2002, v. 60, n. 10, p. S46
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- Publication type:
- Article
Leptin and Reproduction.
- Published in:
- Nutrition Reviews, 2002, v. 60, p. S39, doi. 10.1301/002966402320634823
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- Publication type:
- Article
Evidence‐based consensus guidelines for ALS genetic testing and counseling.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 11, p. 2074, doi. 10.1002/acn3.51895
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- Publication type:
- Article
Molecular assessment of pretransplant chemotherapy in the treatment of juvenile myelomonocytic leukemia.
- Published in:
- 2019
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- Publication type:
- journal article
Methylation Status of CpG Sites in the Mouse and Human CFTR Promoters.
- Published in:
- DNA & Cell Biology, 1995, v. 14, n. 9, p. 811, doi. 10.1089/dna.1995.14.811
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- Publication type:
- Article
Genome-wide DNA methylation is predictive of outcome in juvenile myelomonocytic leukemia.
- Published in:
- Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-02178-9
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- Publication type:
- Article
A systematic review of high impact CpG sites and regions for MGMT methylation in glioblastoma [A systematic review of MGMT methylation in GBM].
- Published in:
- BMC Neurology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12883-024-03605-3
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- Publication type:
- Article
New frameshift mutation, insertion of A, at codon 95 of the β-globin gene causes β-thalassemia in two Vietnamese families.
- Published in:
- Human Mutation, 1996, v. 8, n. 3, p. 293, doi. 10.1002/(SICI)1098-1004(1996)8:3<293::AID-HUMU19>3.0.CO;2-Y
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- Publication type:
- Article
A 31-mutation assay for cystic fibrosis testing in the clinical molecular diagnostics laboratory.
- Published in:
- Human Mutation, 1995, v. 5, n. 4, p. 333, doi. 10.1002/humu.1380050411
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- Publication type:
- Article
A new frameshift mutation, insertion of ATCT, at codon 48 in the β-globin gene causes β-thalassemia in an Indian proband.
- Published in:
- Human Mutation, 1994, v. 3, n. 4, p. 397, doi. 10.1002/humu.1380030413
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- Publication type:
- Article
Reverse dot blot probes for the screening of β-thalassernia mutationsin Asians and American blacks.
- Published in:
- Human Mutation, 1994, v. 3, n. 1, p. 59, doi. 10.1002/humu.1380030110
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- Publication type:
- Article
Molecular Diagnostics: Past, present, and future.
- Published in:
- Human Mutation, 1993, v. 2, n. 5, p. 331, doi. 10.1002/humu.1380020502
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- Publication type:
- Article
Analysis of the mouse and rat CFTR promoter regions.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1089
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- Publication type:
- Article