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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

BMC medical genomics, 2024-01, Vol.17 (1), p.44-44, Article 44

2024

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Novel germline variants in KMT2C in Chinese patients with Kleefstra syndrome-2

Frontiers in neurology, 2024, Vol.15, p.1340458-1340458

2024

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Characteristics of Allan-Herndon-Dudley Syndrome in Chinese children: Identification of two novel pathogenic variants of the SLC16A2 gene

Frontiers in pediatrics, 2022-11, Vol.10, p.1050023-1050023

2022

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Clinical and genetic analysis of trichohepatoneurodevelopmental syndrome caused by a CCDC47 variant

Heliyon, 2024-03, Vol.10 (6), p.e27955-e27955, Article e27955

2024

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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

Molecular genetics & genomic medicine, 2024-02, Vol.12 (2), p.e2408-n/a

2024

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Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing-site variant and a missense variant in the ROBO3 gene

Molecular genetics & genomic medicine, 2023-09, Vol.11 (9), p.e2215-n/a

2023

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Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations

Heliyon, 2023-10, Vol.9 (10), p.e20223-e20223, Article e20223

2023

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Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement

Molecular genetics & genomic medicine, 2021-04, Vol.9 (4), p.e1624-n/a

2021

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Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis

BMC medical genomics, 2024-01, Vol.17 (1)

2024

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Association of the rs1760944 polymorphism in the APEX1 base excision repair gene with risk of nasopharyngeal carcinoma in a population from an endemic area in South China

Journal of clinical laboratory analysis, 2018-02, Vol.32 (2), p.n/a

2018

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The Association of Single-Nucleotide Polymorphism rs13181 in ERCC2 with Risk and Prognosis of Nasopharyngeal Carcinoma in an Endemic Chinese Population

Pharmacogenomics and personalized medicine, 2021-01, Vol.14, p.359-367

2021

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Association of Single-Nucleotide Polymorphisms in DC-SIGN with Nasopharyngeal Carcinoma Susceptibility

Disease markers, 2017-01, Vol.2017, p.6309754-6

2017

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Association of polymorphisms hOGG1 rs1052133 and hMUTYH rs3219472 with risk of nasopharyngeal carcinoma in a Chinese population

OncoTargets and therapy, 2016-01, Vol.9 (Issue 1), p.755-760

2016

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Association of polymorphisms hOGGI rs1052133 and hMUTYH rs3219472 with risk of nasopharyngeal carcinoma in a Chinese population

OncoTargets and therapy, 2016, Vol.9, p.755-760

2016

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Correlation of variable repeat number in the neck regions of DC-SIGN and DC-SIGNR with susceptibility to nasopharyngeal carcinoma in a Chinese population

Cancer management and research, 2018-01, Vol.10, p.3193-3198

2018

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A Convolutional Neural Network Accelerator Architecture with Fine-Granular Mixed Precision Configurability

2020 IEEE International Symposium on Circuits and Systems (ISCAS), 2020, p.1-5

2020

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Low Power and Temperature- Resilient Compute-In-Memory Based on Subthreshold-FeFET

2024 Design, Automation & Test in Europe Conference & Exhibition (DATE), 2024, p.1-6

2024

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Preliminary studies of a new accelerator-driven minor actinide burner in industrial scale

Nuclear engineering and design, 2015-10, Vol.292, p.57-68

2015

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LAVENDER: A steady-state core analysis code for design studies of accelerator driven subcritical reactors

Nuclear engineering and design, 2014-10, Vol.278, p.434-444

2014

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Beam transient analyses of Accelerator Driven Subcritical Reactors based on neutron transport method

Nuclear engineering and design, 2015-12, Vol.295, p.489-499

2015

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A Reconfigurable Multiplier for Signed Multiplications with Asymmetric Bit-Widths

ACM journal on emerging technologies in computing systems, 2021-10, Vol.17 (4), p.1-16

2021

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Computational Associative Memory with Amorphous Metal‐Oxide Channel 3D NAND‐Compatible Floating‐Gate Transistors

Advanced electronic materials, 2022-12, Vol.8 (12), p.n/a

2022

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Reactor core transient analysis of an innovative high‐level nuclear waste transmuter with metal fuel

International journal of energy research, 2017-07, Vol.41 (9), p.1322-1334

2017

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Computational Associative Memory with Amorphous Metal‐Oxide Channel 3D NAND‐Compatible Floating‐Gate Transistors (Adv. Electron. Mater. 12/2022)

Advanced electronic materials, 2022-12, Vol.8 (12), p.n/a

2022

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Reactor core transient analysis of an innovative high-level nuclear waste transmuter with metal fuel: Transient analysis of a transmuter with metal fuel

International journal of energy research, 2017-07, Vol.41 (9), p.1322-1334

2017

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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

Novel germline variants in KMT2C in Chinese patients with Kleefstra syndrome-2

Characteristics of Allan-Herndon-Dudley Syndrome in Chinese children: Identification of two novel pathogenic variants of the SLC16A2 gene

Clinical and genetic analysis of trichohepatoneurodevelopmental syndrome caused by a CCDC47 variant

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

Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing-site variant and a missense variant in the ROBO3 gene

Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations

Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement

Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis

Association of the rs1760944 polymorphism in the APEX1 base excision repair gene with risk of nasopharyngeal carcinoma in a population from an endemic area in South China

The Association of Single-Nucleotide Polymorphism rs13181 in ERCC2 with Risk and Prognosis of Nasopharyngeal Carcinoma in an Endemic Chinese Population

Association of Single-Nucleotide Polymorphisms in DC-SIGN with Nasopharyngeal Carcinoma Susceptibility

Association of polymorphisms hOGG1 rs1052133 and hMUTYH rs3219472 with risk of nasopharyngeal carcinoma in a Chinese population

Association of polymorphisms hOGGI rs1052133 and hMUTYH rs3219472 with risk of nasopharyngeal carcinoma in a Chinese population

Correlation of variable repeat number in the neck regions of DC-SIGN and DC-SIGNR with susceptibility to nasopharyngeal carcinoma in a Chinese population

A Convolutional Neural Network Accelerator Architecture with Fine-Granular Mixed Precision Configurability

Low Power and Temperature- Resilient Compute-In-Memory Based on Subthreshold-FeFET

Preliminary studies of a new accelerator-driven minor actinide burner in industrial scale

LAVENDER: A steady-state core analysis code for design studies of accelerator driven subcritical reactors

Beam transient analyses of Accelerator Driven Subcritical Reactors based on neutron transport method

A Reconfigurable Multiplier for Signed Multiplications with Asymmetric Bit-Widths

Computational Associative Memory with Amorphous Metal‐Oxide Channel 3D NAND‐Compatible Floating‐Gate Transistors

Reactor core transient analysis of an innovative high‐level nuclear waste transmuter with metal fuel

Computational Associative Memory with Amorphous Metal‐Oxide Channel 3D NAND‐Compatible Floating‐Gate Transistors (Adv. Electron. Mater. 12/2022)

Reactor core transient analysis of an innovative high-level nuclear waste transmuter with metal fuel: Transient analysis of a transmuter with metal fuel

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