Found: 21
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Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1692
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- Article
Germline and somatic mutations in the pathology of pineal cyst: A whole‐exome sequencing study of 93 individuals.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1691
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- Article
A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1683
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- Article
Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1689
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- Article
The first Japanese family of CDH3‐related hypotrichosis with juvenile macular dystrophy.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1688
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- Article
Expanding the phenotype of CACNA1C mutation disorders.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1673
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- Article
Costello syndrome with special cutaneous manifestations and HRAS G12D mutation: A case report and literature review.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1690
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- Article
Clinical value for the detection of fetal chromosomal deletions/duplications by noninvasive prenatal testing in clinical practice.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1687
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- Article
Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1682
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- Article
More severe phenotype of early‐onset osteoporosis associated with recessive form of LRP5 and combination with DKK1 or WNT3A.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1681
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- Article
A novel EDAR missense mutation identified by whole‐exome sequencing with non‐syndromic tooth agenesis in a Chinese family.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1684
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- Article
Genetic variants related to successful migraine prophylaxis with verapamil.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1680
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- Article
Novel HEXA variants in Korean children with Tay–Sachs disease with regression of neurodevelopment from infancy.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1677
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- Article
Novel mutations in BMP1 result in a patient with autosomal recessive osteogenesis imperfecta.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1676
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- Article
Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1675
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- Article
Genetic and clinical spectrums in Korean Charcot‐Marie‐Tooth disease patients with myelin protein zero mutations.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1678
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- Article
Investigating the ACE2 polymorphisms in COVID‐19 susceptibility: An in silico analysis.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1672
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- Article
A glimpse of the genetics of young‐onset Parkinson's disease in Central Asia.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1671
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- Article
RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1669
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- Article
Epimutation of MMACHC compound to a genetic mutation in cblC cases.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1625
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- Article
Issue Information.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1328
- Publication type:
- Article