Works in Molecular Genetics & Genomic Medicine, 2021, Vol 9, Issue 7
Results: 22
Cover.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1778
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Identification of novel mutation in RANKL by whole‐exome sequencing in a Thai family with osteopetrosis; a case report and review of RANKL osteopetrosis.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1727
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Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1726
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CHL1 deletion is associated with cognitive and language disabilities – Case report and review of literature.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1725
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Implementation of fragile X syndrome carrier screening during prenatal diagnosis: A pilot study at a single center.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1711
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The VANGL1 P384R variant cause both neural tube defect and Klippel‐Feil syndrome.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1710
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Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1709
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In silico modeling of the interaction between TEX19 and LIRE1, and analysis of TEX19 gene missense SNPs.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1707
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- Article
A De Novo case of autosomal dominant mitochondrial membrane protein‐associated neurodegeneration.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1706
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- Article
The impact of CYP19A1 variants and haplotypes on breast cancer risk, clinicopathological features and prognosis.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1705
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- Article
LAMB2 novel variant c.2885‐9 C>A affects RNA splicing in a minigene assay.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1704
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Preparing genomic revolution: Attitudes, clinical practice, and training needs in delivering genetic counseling in primary care in Hong Kong and Shenzhen, China.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1702
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Blood group genotyping in alloimmunized multi‐transfused thalassemia patients from Iran.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1701
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Genetic polymorphism of vitamin D receptors and plasminogen activator inhibitor‐1 and osteonecrosis risk in childhood acute lymphoblastic leukemia.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1700
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Genetic variations in DNA repair gene NEIL1 associated with radiation pneumonitis risk in lung cancer patients.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1698
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- Article
Hyperhaemolysis in a pregnant woman with a homozygous β<sup>0</sup>‐thalassemia mutation and two genetic modifiers.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1696
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Polymorphisms in the CYP2A6 and ABCC4 genes are associated with a protective effect on chronic myeloid leukemia in the Brazilian Amazon population.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1694
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The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1693
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Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1665
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Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1623
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- Article
Issue Information.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1329
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- Article
A novel missense variant in cathepsin C gene leads to PLS in a Chinese patient: A case report and literature review.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1686
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- Article