Found: 22
Select item for more details and to access through your institution.
The spectrum of phenylalanine hydroxylase variants and genotype–phenotype correlation in phenylketonuria patients in Gansu, China.
- Published in:
- Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00475-7
- By:
- Publication type:
- Article
Result of a Pilot External Quality Assessment Scheme for Clinical Diagnosis of Inherited Metabolic Disorders in China.
- Published in:
- Clinical Laboratory, 2024, v. 70, n. 4, p. 747, doi. 10.7754/Clin.Lab.2023.230909
- By:
- Publication type:
- Article
Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-69565-z
- By:
- Publication type:
- Article
Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02742-1
- By:
- Publication type:
- Article
Case Report: A Novel GJB2 Missense Variant Inherited From the Low-Level Mosaic Mother in a Chinese Female With Palmoplantar Keratoderma With Deafness.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.938639
- By:
- Publication type:
- Article
Three Variants Affecting Exon 1 of Ectodysplasin A Cause X-Linked Hypohidrotic Ectodermal Dysplasia: Clinical and Molecular Characteristics.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.916340
- By:
- Publication type:
- 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
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
Five Novel COL7A1 Gene Mutations in Three Chinese Patients with Recessive Dystrophic Epidermolysis Bullosa.
- Published in:
- Annals of Clinical & Laboratory Science, 2018, v. 48, n. 1, p. 100
- By:
- Publication type:
- Article
Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients.
- Published in:
- Journal of Clinical Laboratory Analysis, 2021, v. 35, n. 1, p. 1, doi. 10.1002/jcla.23567
- By:
- Publication type:
- Article
Maternal UPD of chromosome 7 in a patient with Silver‐Russell syndrome and Pendred syndrome.
- Published in:
- Journal of Clinical Laboratory Analysis, 2020, v. 34, n. 9, p. 1, doi. 10.1002/jcla.23407
- By:
- Publication type:
- Article
Compound heterozygous variants of the FBXO7 gene resulting in infantile-onset Parkinsonian-pyramidal syndrome in siblings of a Chinese family.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Evaluation of droplet digital PCR for non-invasive prenatal diagnosis of phenylketonuria.
- Published in:
- Analytical & Bioanalytical Chemistry, 2019, v. 411, n. 27, p. 7115, doi. 10.1007/s00216-019-02087-4
- By:
- Publication type:
- Article
Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants.
- Published in:
- Metabolic Brain Disease, 2019, v. 34, n. 3, p. 733, doi. 10.1007/s11011-019-0387-7
- By:
- Publication type:
- Article
Identification of novel deep intronic PAH gene variants in patients diagnosed with phenylketonuria.
- Published in:
- Human Mutation, 2022, v. 43, n. 1, p. 56, doi. 10.1002/humu.24292
- By:
- Publication type:
- Article
A novel LOXHD1 variant in a Chinese couple with hearing loss.
- Published in:
- Journal of International Medical Research, 2019, v. 47, n. 12, p. 6082, doi. 10.1177/0300060519884197
- By:
- Publication type:
- Article
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
- By:
- Publication type:
- Article
Genetic analysis and literature review of a Poirier–Bienvenu neurodevelopmental syndrome family line caused by a de novo frameshift variant in CSNK2B.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2327
- By:
- Publication type:
- Article
Immune skeletal dysplasia with neurodevelopmental abnormalities caused by a novel variant of EXTL3 gene in a Chinese family.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2308
- By:
- Publication type:
- Article
Novel de novo mutation in ZBTB20 in a Chinese Primrose syndrome family and a review of the literature.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2304
- By:
- Publication type:
- Article
Evaluation of the clinical effects of non‐invasive prenatal screening for diseases associated with aneuploidy and copy number variation.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 9, p. 1, doi. 10.1002/mgg3.2200
- By:
- Publication type:
- Article
Detailed pedigree analyses and prenatal diagnosis for a family with mucopolysaccharidosis type II.
- Published in:
- BMC Medical Genomics, 2021, v. 14, p. 1, doi. 10.1186/s12920-021-01027-5
- By:
- Publication type:
- Article