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Case Report: Identification Pathogenic Abnormal Splicing of BBS1 Causing Bardet-Biedl Syndrome Type I (BBS1) due to Missense Mutation

Frontiers in genetics, 2022-05, Vol.13, p.849562

2022

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Case report: Prenatal diagnosis of Kagami–Ogata syndrome in a Chinese family

Frontiers in genetics, 2022-08, Vol.13

2022

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Case report: FOXP1 syndrome caused by a de novo splicing variant (c.1652+5 G>A) of the FOXP1 gene

Frontiers in genetics, 2022-08, Vol.13

2022

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Novel homozygous silent mutation of ITGB3 gene caused Glanzmann thrombasthenia

Frontiers in pediatrics, 2023-01, Vol.10, p.1062900-1062900

2023

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Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening

Molecular cytogenetics, 2022-09, Vol.15 (1), p.1-39, Article 39

2022

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Case report: A compound heterozygous mutations in ASNS broadens the spectrum of asparagine synthetase deficiency in the prenatal diagnosis

Frontiers in pediatrics, 2023-10, Vol.11

2023

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Case Report: De novo DDX3X mutation caused intellectual disability in a female with skewed X-chromosome inactivation on the mutant allele

Frontiers in genetics, 2022-10, Vol.13

2022

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Corrigendum: Case Report: Prenatal Diagnosis for a Rett Syndrome Family Caused by a Novel MECP2 Deletion With Heteroduplexes of PCR Product

Frontiers in pediatrics, 2022-04, Vol.10, p.823860-823860

2022

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Identification of a likely pathogenic structural variation in the LAMA1 gene by Bionano optical mapping

Npj genomic medicine, 2020-08, Vol.5 (1), p.31, Article 31

2020

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Synonymous variant at the terminal nucleotide in exon 3 of F7 causes abnormal splicing: A case report

Molecular genetics & genomic medicine, 2024-07, Vol.12 (7), p.e2492-n/a

2024

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A Novel Silent Mutation in the L1CAM Gene Causing Fetal Hydrocephalus Detected by Whole-Exome Sequencing

Frontiers in genetics, 2019-09, Vol.10

2019

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Case Report: Prenatal Diagnosis for a Rett Syndrome Family Caused by a Novel MECP2 Deletion With Heteroduplexes of PCR Product

Frontiers in pediatrics, 2021-10, Vol.9, p.748641

2021

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Heterozygous Deletion of the SHOX Gene Enhancer in two Females With Clinical Heterogeneity Associating With Skewed XCI and Escaping XCI

Frontiers in genetics, 2019-11, Vol.10

2019

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Plant phenolic extracts for the quality protection of frying oil during deep frying: Sources, effects, and mechanisms

Grain & oil science and technology (Online), 2023-09, Vol.6 (3), p.148-161

2023

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Non-invasive prenatal screening for Emanuel syndrome

Molecular cytogenetics, 2020-03, Vol.13 (1), p.9-9, Article 9

2020

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Validation and depth evaluation of recurrent neural network‐based ultra low‐pass genome sequencing for the detection of absence of heterozygosity: A multi‐centre study of 409 cases

Clinical and translational medicine, 2024-07, Vol.14 (7), p.e1752-n/a

2024

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Single‐cell landscape analysis reveals systematic senescence in mammalian Down syndrome

Clinical and translational medicine, 2023-07, Vol.13 (7), p.e1310-n/a

2023

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Enhanced catalytic performance of Cu-doped MnFe2O4 magnetic ferrites: Tetracycline hydrochloride attacked by superoxide radicals efficiently in a strong alkaline environment

Chemosphere (Oxford), 2022-06, Vol.297, p.134154-134154, Article 134154

2022

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The application of NIPT using combinatorial probe-anchor synthesis to identify sex chromosomal aneuploidies (SCAs) in a cohort of 570 pregnancies

Molecular cytogenetics, 2018-12, Vol.11 (1), p.59-59, Article 59

2018

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HSD17B12 dosage insufficiency induced premature ovarian insufficiency in humans and mice

Clinical and translational medicine, 2022-02, Vol.12 (2), p.e737-n/a

2022

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Efficient removal of tetracycline hydrochloride by high entropy oxides in visible photo-Fenton catalytic process

Environmental technology, 2024-10, Vol.45 (22), p.4656-4669

2024

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Efficient degradation of tetracycline hydrochloride by peroxymonosulfate activated by composite materials FeSe2/Fe3O4 under visible light

Chemical physics letters, 2022-10, Vol.805, p.139944, Article 139944

2022

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Performance and mechanism of co-doped Ce–Mn perovskite for degradation of tetracycline via heterogeneous photocatalysis coupled PMS oxidation

Materials science in semiconductor processing, 2023-02, Vol.154, p.107229, Article 107229

2023

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A novel F8 variant in a Chinese hemophilia A family and involvement of X-chromosome inactivation: A case report

Medicine (Baltimore), 2023-05, Vol.102 (18), p.e33665-e33665

2023

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Magnetically separable NiFe2O4/sepiolite catalyst for enhanced ozonation treatment of quinoline and bio-treated coking wastewater in a catalytic ozonation system

Process safety and environmental protection, 2022-03, Vol.159, p.422-432

2022

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Case Report: Identification Pathogenic Abnormal Splicing of BBS1 Causing Bardet-Biedl Syndrome Type I (BBS1) due to Missense Mutation

Case report: Prenatal diagnosis of Kagami–Ogata syndrome in a Chinese family

Case report: FOXP1 syndrome caused by a de novo splicing variant (c.1652+5 G>A) of the FOXP1 gene

Novel homozygous silent mutation of ITGB3 gene caused Glanzmann thrombasthenia

Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening

Case report: A compound heterozygous mutations in ASNS broadens the spectrum of asparagine synthetase deficiency in the prenatal diagnosis

Case Report: De novo DDX3X mutation caused intellectual disability in a female with skewed X-chromosome inactivation on the mutant allele

Corrigendum: Case Report: Prenatal Diagnosis for a Rett Syndrome Family Caused by a Novel MECP2 Deletion With Heteroduplexes of PCR Product

Identification of a likely pathogenic structural variation in the LAMA1 gene by Bionano optical mapping

Synonymous variant at the terminal nucleotide in exon 3 of F7 causes abnormal splicing: A case report

A Novel Silent Mutation in the L1CAM Gene Causing Fetal Hydrocephalus Detected by Whole-Exome Sequencing

Case Report: Prenatal Diagnosis for a Rett Syndrome Family Caused by a Novel MECP2 Deletion With Heteroduplexes of PCR Product

Heterozygous Deletion of the SHOX Gene Enhancer in two Females With Clinical Heterogeneity Associating With Skewed XCI and Escaping XCI

Plant phenolic extracts for the quality protection of frying oil during deep frying: Sources, effects, and mechanisms

Non-invasive prenatal screening for Emanuel syndrome

Validation and depth evaluation of recurrent neural network‐based ultra low‐pass genome sequencing for the detection of absence of heterozygosity: A multi‐centre study of 409 cases

Single‐cell landscape analysis reveals systematic senescence in mammalian Down syndrome

Enhanced catalytic performance of Cu-doped MnFe2O4 magnetic ferrites: Tetracycline hydrochloride attacked by superoxide radicals efficiently in a strong alkaline environment

The application of NIPT using combinatorial probe-anchor synthesis to identify sex chromosomal aneuploidies (SCAs) in a cohort of 570 pregnancies

HSD17B12 dosage insufficiency induced premature ovarian insufficiency in humans and mice

Efficient removal of tetracycline hydrochloride by high entropy oxides in visible photo-Fenton catalytic process

Efficient degradation of tetracycline hydrochloride by peroxymonosulfate activated by composite materials FeSe2/Fe3O4 under visible light

Performance and mechanism of co-doped Ce–Mn perovskite for degradation of tetracycline via heterogeneous photocatalysis coupled PMS oxidation

A novel F8 variant in a Chinese hemophilia A family and involvement of X-chromosome inactivation: A case report

Magnetically separable NiFe2O4/sepiolite catalyst for enhanced ozonation treatment of quinoline and bio-treated coking wastewater in a catalytic ozonation system

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