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P634: Exonic SVs driven by Alu/Alu-mediated genomic rearrangements contribute on a large scale to alleles underlying human Mendelian rare disease traits

Genetics in Medicine Open, 2024, Vol.2, p.101540, Article 101540

2024

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A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode

American journal of human genetics, 2022-09, Vol.109 (9), p.1713-1723

2022

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El‐Hattab‐Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype

Clinical genetics, 2022-05, Vol.101 (5-6), p.530-540

2022

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Boosting Electrocatalytic Nitrate Reduction to Ammonia via Promoting Water Dissociation

ACS catalysis, 2023-08, Vol.13 (16), p.10846-10854

2023

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Binuclear Metal Phthalocyanines with Enhanced Activity in the Oxygen Evolution Reaction: A First-Principles Study

The journal of physical chemistry letters, 2024-03, Vol.15 (12), p.3336-3344

2024

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Rationally Modulating the Functions of Ni3Sn2‐NiSnOx Nanocomposite Electrocatalysts towards Enhanced Hydrogen Evolution Reaction

Angewandte Chemie International Edition, 2023-05, Vol.62 (19), p.n/a

International ed. in English, 2023

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Modulating crystal facets of photoanodes for photoelectrocatalytic scalable degradation of fluorinated pharmaceuticals in wastewater

Water research (Oxford), 2024-09, Vol.262, p.122101, Article 122101

2024

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Amino Acid Synthesis through C–N Coupling between α‑Ketoacids and Hydroxylamine from Nitrate Reduction

ACS catalysis, 2024-07, Vol.14 (13), p.10164-10171

2024

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Fabrication of perovskite solar cells with PCE of 21.84% in open air by bottom-up defect passivation and stress releasement

Chemical engineering journal (Lausanne, Switzerland : 1996), 2023-09, Vol.471, p.144279, Article 144279

2023

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Promoting C-C coupling for CO 2 reduction on Cu 2 O electrocatalysts with atomically dispersed Rh atoms

Chemical communications (Cambridge, England), 2024-05, Vol.60 (42), p.5550-5553

2024

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Promoting C–C coupling for CO2 reduction on Cu2O electrocatalysts with atomically dispersed Rh atoms

Chemical communications (Cambridge, England), 2024-05, Vol.60 (42), p.5550-5553

2024

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Promoting C-C coupling for CO reduction on CuO electrocatalysts with atomically dispersed Rh atoms

Chemical communications (Cambridge, England), 2024-05, Vol.6 (42), p.555-5553

2024

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Understanding the Synergistic Catalysis in Hydrogenation of Carbonyl Groups on Cu-Based Catalysts

ACS catalysis, 2024-02, Vol.14 (3), p.1620-1628

2024

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Rationally Modulating the Functions of Ni 3 Sn 2 -NiSnO x Nanocomposite Electrocatalysts towards Enhanced Hydrogen Evolution Reaction

Angewandte Chemie International Edition, 2023-05, Vol.62 (19), p.e202301562

2023

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A synchronous defluorination-oxidation process for efficient mineralization of fluoroarenes with photoelectrocatalysis

Chinese journal of catalysis, 2023-12, Vol.55, p.171-181

2023

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High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

American journal of human genetics, 2021-10, Vol.108 (10), p.1981-2005

2021

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Discovery of potential Toxoplasma gondii CDPK1 inhibitors with new scaffolds based on the combination of QSAR and scaffold‐hopping method with in vitro validation

Chemical biology & drug design, 2020-05, Vol.95 (5), p.476-484

2020

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Structural basis and energy landscape of apigenin-induced cancer cell apoptosis mechanism in PI3K/Akt pathway

Molecular simulation, 2016-01, Vol.42 (2), p.138-148

2016

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Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS‐related rare disease traits

Clinical genetics, 2023-09, Vol.104 (3), p.344-349

2023

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A novel homozygous SLC13A5 whole‐gene deletion generated by Alu/Alu‐mediated rearrangement in an Iraqi family with epileptic encephalopathy

American journal of medical genetics. Part A, 2021-07, Vol.185 (7), p.1972-1980

2021

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Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features

Human molecular genetics, 2023-10, Vol.32 (20), p.2981-2995

2023

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Expanding the phenotype of PPP1R21‐related neurodevelopmental disorder

Clinical genetics, 2024-06, Vol.105 (6), p.620-629

2024

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Photoelectrocatalytic reduction of CO2 catalyzed by TiO2/TiN nanotube heterojunction: Nitrogen assisted active hydrogen mechanism

Chinese journal of catalysis, 2023-04, Vol.47, p.243-253

2023

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P634: Exonic SVs driven by Alu/Alu-mediated genomic rearrangements contribute on a large scale to alleles underlying human Mendelian rare disease traits

A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode

El‐Hattab‐Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype

Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome

Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability

Boosting Electrocatalytic Nitrate Reduction to Ammonia via Promoting Water Dissociation

Binuclear Metal Phthalocyanines with Enhanced Activity in the Oxygen Evolution Reaction: A First-Principles Study

Rationally Modulating the Functions of Ni3Sn2‐NiSnOx Nanocomposite Electrocatalysts towards Enhanced Hydrogen Evolution Reaction

Modulating crystal facets of photoanodes for photoelectrocatalytic scalable degradation of fluorinated pharmaceuticals in wastewater

Amino Acid Synthesis through C–N Coupling between α‑Ketoacids and Hydroxylamine from Nitrate Reduction

Fabrication of perovskite solar cells with PCE of 21.84% in open air by bottom-up defect passivation and stress releasement

Promoting C-C coupling for CO 2 reduction on Cu 2 O electrocatalysts with atomically dispersed Rh atoms

Promoting C–C coupling for CO2 reduction on Cu2O electrocatalysts with atomically dispersed Rh atoms

Promoting C-C coupling for CO reduction on CuO electrocatalysts with atomically dispersed Rh atoms

Understanding the Synergistic Catalysis in Hydrogenation of Carbonyl Groups on Cu-Based Catalysts

Rationally Modulating the Functions of Ni 3 Sn 2 -NiSnO x Nanocomposite Electrocatalysts towards Enhanced Hydrogen Evolution Reaction

A synchronous defluorination-oxidation process for efficient mineralization of fluoroarenes with photoelectrocatalysis

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

Discovery of potential Toxoplasma gondii CDPK1 inhibitors with new scaffolds based on the combination of QSAR and scaffold‐hopping method with in vitro validation

Structural basis and energy landscape of apigenin-induced cancer cell apoptosis mechanism in PI3K/Akt pathway

Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS‐related rare disease traits

A novel homozygous SLC13A5 whole‐gene deletion generated by Alu/Alu‐mediated rearrangement in an Iraqi family with epileptic encephalopathy

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features

Expanding the phenotype of PPP1R21‐related neurodevelopmental disorder

Photoelectrocatalytic reduction of CO2 catalyzed by TiO2/TiN nanotube heterojunction: Nitrogen assisted active hydrogen mechanism

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