Works in Molecular Genetics & Genomic Medicine, 2021, Vol 9, Issue 3
Results: 21
Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1620
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- Article
Vitamin D status and CYP27B1‐1260 promoter polymorphism in Tunisian patients with systemic lupus erythematosus.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1618
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- Article
Identification and characterization of six β‐crystallin gene mutations associated with congenital cataract in Chinese families.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1617
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- Article
Negotiating political power and stigma around fragile X Syndrome in a rural village in Cameroon: A tale of a royal family and a community.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1615
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- Article
The Rh blood group system and its role in alloimmunization rate among sickle cell disease and sickle thalassemia patients in Iran.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1614
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- Article
A novel SPINK5 donor splice site variant in a child with Netherton syndrome.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1611
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- Article
Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in Cameroon.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1609
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- Article
Characteristic facial features and cortical blindness distinguish the DOCK7‐related epileptic encephalopathy.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1607
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- Article
A novel Xp11.22–22.33 deletion suggesting a possible mechanism of congenital cervical spinal muscular atrophy.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1606
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- Article
A report on seven fetal cases associated with 15q11‐q13 microdeletion and microduplication.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1605
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- Article
Whole genome sequencing reveals translocation breakpoints disrupting TP63 gene underlying split hand/foot malformation in a Chinese family.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1604
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- Article
A rare gene variation cap +1 (A>C) (HBB: c. −50A>C) associated with codon 5 (‐CT) (HBB: c.17_18delCT) mutation in Syrian family.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1602
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- Article
Gene correction of the CLN3 c.175G>A variant in patient‐derived induced pluripotent stem cells prevents pathological changes in retinal organoids.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1601
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Netherton syndrome caused by compound heterozygous mutation, c.80A>G mutation in SPINK5 and large‐sized genomic deletion mutation, and successful treatment of intravenous immunoglobulin.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1600
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- Article
BMPR1B gene in brachydactyly type 2–A family with de novo R486W mutation and a disease phenotype.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1594
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- Article
Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1593
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- Article
Duplication of 9p24.3 in three unrelated patients and their phenotypes, considering affected genes, and similar recurrent variants.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1592
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- Article
Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1559
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- Article
Allelic and genotype frequencies of major CYP2B6 polymorphisms in the Pakistani population.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1527
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- Article
Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1494
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- Article
Issue Information.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1325
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- Article