Found: 16
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Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 6, p. 1, doi. 10.1002/mgg3.2434
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- Article
Genetic analysis and literature review of a Poirier–Bienvenu neurodevelopmental syndrome family line caused by a de novo frameshift variant in CSNK2B.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2327
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- Article
Immune skeletal dysplasia with neurodevelopmental abnormalities caused by a novel variant of EXTL3 gene in a Chinese family.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2308
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- Article
Novel de novo mutation in ZBTB20 in a Chinese Primrose syndrome family and a review of the literature.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2304
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- Article
Identification of a novel ANK1 mutation in hereditary spherocytosis co‐existing with BWS.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1903
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- Article
A novel LOXHD1 variant in a Chinese couple with hearing loss.
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- Journal of International Medical Research, 2019, v. 47, n. 12, p. 6082, doi. 10.1177/0300060519884197
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- Article
Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02742-1
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- Article
The spectrum of phenylalanine hydroxylase variants and genotype–phenotype correlation in phenylketonuria patients in Gansu, China.
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- Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00475-7
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- Article
Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients.
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- Journal of Clinical Laboratory Analysis, 2021, v. 35, n. 1, p. 1, doi. 10.1002/jcla.23567
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- Article
Maternal UPD of chromosome 7 in a patient with Silver‐Russell syndrome and Pendred syndrome.
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- Journal of Clinical Laboratory Analysis, 2020, v. 34, n. 9, p. 1, doi. 10.1002/jcla.23407
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- Article
Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-69565-z
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- Article
Detailed pedigree analyses and prenatal diagnosis for a family with mucopolysaccharidosis type II.
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- BMC Medical Genomics, 2021, v. 14, p. 1, doi. 10.1186/s12920-021-01027-5
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- Article
Case Report: A Novel GJB2 Missense Variant Inherited From the Low-Level Mosaic Mother in a Chinese Female With Palmoplantar Keratoderma With Deafness.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.938639
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- Article
Three Variants Affecting Exon 1 of Ectodysplasin A Cause X-Linked Hypohidrotic Ectodermal Dysplasia: Clinical and Molecular Characteristics.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.916340
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- Article
Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.869210
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- Article
Case Report: A Novel De Novo Missense Mutation of the GRIA2 Gene in a Chinese Case of Neurodevelopmental Disorder With Language Impairment.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.794766
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- Article