Found: 41
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A novel variant in NSUN2 causes intellectual disability in a Chinese family.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01883-x
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- Publication type:
- Article
Appropriate whole genome amplification and pathogenic loci detection can improve the accuracy of preimplantation genetic diagnosis for deletional α-thalassemia.
- Published in:
- Frontiers in Endocrinology, 2024, p. 1, doi. 10.3389/fendo.2023.1176063
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- Publication type:
- Article
Novel germline variants in KMT2C in Chinese patients with Kleefstra syndrome-2.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1340458
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- Publication type:
- Article
Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, café‐au‐lait spots, and metabolic abnormality.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 2, p. 1, doi. 10.1002/mgg3.2408
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- Publication type:
- Article
Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 variation.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01805-x
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- Publication type:
- Article
A genetic variant in the MAST1 gene is associated with mega‐corpus‐callosum syndrome with hypoplastic cerebellar vermis, in a fetus.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2358
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- Publication type:
- Article
Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing‐site variant and a missense variant in the ROBO3 gene.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 9, p. 1, doi. 10.1002/mgg3.2215
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- Publication type:
- Article
Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review.
- Published in:
- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01567-y
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- Publication type:
- Article
Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3347, doi. 10.1093/brain/awad071
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- Publication type:
- Article
Genetic Basis of Congenital Central Hypothyroidism in Children: Expanding the Mutational Spectrum of POU1F1 and ATP6V0A4.
- Published in:
- International Journal of General Medicine, 2023, v. 16, p. 3355, doi. 10.2147/IJGM.S421382
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- Publication type:
- Article
Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Detection of gonosomal mosaicism by ultra‐deep sequencing and droplet digital PCR in patients with Emery–Dreifuss muscular dystrophy.
- Published in:
- 2023
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- Publication type:
- Case Study
Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review.
- Published in:
- 2023
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- Publication type:
- Case Study
Phenotypic Spectrum of Trisomy 18 Mosaicism: a New Patient and Literature Review.
- Published in:
- Clinical Laboratory, 2023, v. 69, n. 3, p. 625, doi. 10.7754/Clin.Lab.2022.220610
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- Publication type:
- Article
Reference intervals for erythrocyte parameters and hemoglobin electrophoresis parameters for young children in Guangxi.
- Published in:
- International Journal of Laboratory Hematology, 2023, v. 45, n. 1, p. 104, doi. 10.1111/ijlh.13965
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- Publication type:
- Article
De Novo SMARCC2 Variant in a Chinese Woman with Coffin-Siris Syndrome 8: a Case Report with Mild Intellectual Disability and Endocrinopathy.
- Published in:
- Journal of Molecular Neuroscience, 2022, v. 72, n. 6, p. 1293, doi. 10.1007/s12031-022-02010-0
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- Publication type:
- Article
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study.
- Published in:
- Human Mutation, 2022, v. 43, n. 5, p. 568, doi. 10.1002/humu.24347
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- Publication type:
- Article
Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing.
- Published in:
- BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01217-9
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- Publication type:
- Article
De Novo CSNK2B Mutations in Five Cases of Poirier–Bienvenu Neurodevelopmental Syndrome.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.811092
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- Publication type:
- Article
De Novo CSNK2B Mutations in Five Cases of Poirier–Bienvenu Neurodevelopmental Syndrome.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.811092
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- Publication type:
- Article
Case Report: Christianson Syndrome Caused by SLC9A6 Mutation: From Case to Genotype-Phenotype Analysis.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.783841
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- Publication type:
- Article
A High Proportion of Novel ACAN Mutations and Their Prevalence in a Large Cohort of Chinese Short Stature Children.
- Published in:
- 2021
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- Publication type:
- journal article
A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1683
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- Publication type:
- Article
A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report.
- Published in:
- Experimental & Therapeutic Medicine, 2021, v. 21, n. 4, p. N.PAG, doi. 10.3892/etm.2021.9742
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- Publication type:
- Article
Performance of Cell-Free DNA Screening for Fetal Common Aneuploidies and Sex Chromosomal Abnormalities: A Prospective Study from a Less Developed Autonomous Region in Mainland China.
- Published in:
- Genes, 2021, v. 12, n. 4, p. 478, doi. 10.3390/genes12040478
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- Publication type:
- Article
Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 4, p. 1, doi. 10.1002/mgg3.1624
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- Publication type:
- Article
Whole‐exome sequencing identified novel compound heterozygous variants in a Chinese neonate with liver failure and review of literature.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 12, p. 1, doi. 10.1002/mgg3.1515
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- Publication type:
- Article
Two novel mutations in DNAJC12 identified by whole‐exome sequencing in a patient with mild hyperphenylalaninemia.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1303
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- Publication type:
- Article
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00592
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- Publication type:
- Article
Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation-dependent probe amplification in an infant with congenital generalized lipodystrophy.
- Published in:
- Molecular Medicine Reports, 2020, v. 21, n. 6, p. 2296, doi. 10.3892/mmr.2020.11036
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- Publication type:
- Article
Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene‐disease relationship.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 5, p. 1, doi. 10.1002/mgg3.1212
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- Publication type:
- Article
Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01008-y
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- Publication type:
- Article
PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus.
- Published in:
- Frontiers in Genetics, 2020, p. 1, doi. 10.3389/fgene.2020.00198
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- Publication type:
- Article
Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0462-0
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- Publication type:
- Article
Two novel pathogenic variants of L1CAM gene in two fetuses with isolated X-linked hydrocephaly: A case report.
- Published in:
- Molecular Medicine Reports, 2018, v. 18, n. 6, p. 5760, doi. 10.3892/mmr.2018.9583
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- Publication type:
- Article
Mosaic UPD(7q)mat in a patient with silver Russell syndrome.
- Published in:
- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0337-1
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- Publication type:
- Article
A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
de novo interstitial deletions at the 11q23.3-q24.2 region.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0165-2
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- Publication type:
- Article
Clinical and molecular evaluations of siblings with "pure" 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3).
- Published in:
- 2014
- By:
- Publication type:
- Case Study