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Identification of a Novel CNV at 8q13 in a Family With Branchio-Oto-Renal Syndrome and Epilepsy.
- Published in:
- 2020
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- Publication type:
- journal article
Targeting BMAL1 reverses drug resistance of acute myeloid leukemia cells and promotes ferroptosis through HMGB1-GPX4 signaling pathway.
- Published in:
- Journal of Cancer Research & Clinical Oncology, 2024, v. 150, n. 5, p. 1, doi. 10.1007/s00432-024-05753-y
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- Publication type:
- Article
A model‐based tracking method for measuring 3D dynamic joint motion using an alternating biplane x‐ray imaging system.
- Published in:
- Medical Physics, 2018, v. 45, n. 8, p. 3637, doi. 10.1002/mp.13042
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- Publication type:
- Article
Phenotypic Spectrum of Idiopathic Hypogonadotropic Hypogonadism Patients With CHD7 Variants From a Large Chinese Cohort.
- Published in:
- 2019
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- Publication type:
- journal article
RORα Suppresses Cancer-Associated Inflammation by Repressing Respiratory Complex I-Dependent ROS Generation.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 19, p. 10665, doi. 10.3390/ijms221910665
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- Publication type:
- Article
Analysis of PLXNA1, NRP1, and NRP2 variants in a cohort of patients with isolated hypogonadotropic hypogonadism.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1816
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- Publication type:
- Article
Application of Machine Learning to Ultrasonography in Identifying Anatomical Landmarks for Cricothyroidotomy Among Female Adults: A Multi-center Prospective Observational Study.
- Published in:
- Journal of Digital Imaging, 2024, v. 37, n. 1, p. 363, doi. 10.1007/s10278-023-00929-3
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- Publication type:
- Article
Insertion of a knockout-first cassette in Ampd1 gene leads to neonatal death by disruption of neighboring genes expression.
- Published in:
- Scientific Reports, 2016, p. 35970, doi. 10.1038/srep35970
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- Publication type:
- Article
Genetic and functional analysis of a Li Fraumeni syndrome family in China.
- Published in:
- Scientific Reports, 2016, p. 20221, doi. 10.1038/srep20221
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- Publication type:
- Article
Leg and Joint Stiffness in Children with Spastic Diplegic Cerebral Palsy during Level Walking.
- Published in:
- PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0143967
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- Publication type:
- Article
Correction: Measurement of Mandibular Growth Using Cone-Beam Computed Tomography: A Miniature Pig Model Study.
- Published in:
- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0132200
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- Publication type:
- Article
Genetic Diagnosis of Two Dopa-Responsive Dystonia Families by Exome Sequencing.
- Published in:
- PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0106388
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- Publication type:
- Article
Measurement of Mandibular Growth Using Cone-Beam Computed Tomography: A Miniature Pig Model Study.
- Published in:
- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0096540
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- Publication type:
- Article
Identification of <i>CHIP</i> as a Novel Causative Gene for Autosomal Recessive Cerebellar Ataxia.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0081884
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- Publication type:
- Article
Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II.
- Published in:
- Human Genetics, 2012, v. 131, n. 3, p. 491, doi. 10.1007/s00439-011-1098-2
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- Publication type:
- Article
Membrane associated collagen XIII promotes cancer metastasis and enhances anoikis resistance.
- Published in:
- 2018
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- Publication type:
- journal article
Discovery of a Novel Variant of SEMA3A in a Chinese Patient with Isolated Hypogonadotropic Hypogonadism.
- Published in:
- International Journal of Endocrinology, 2021, p. 1, doi. 10.1155/2021/7752526
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- Publication type:
- Article
Comparison of measurements of mandible growth using cone beam computed tomography and its synthesized cephalograms.
- Published in:
- 2014
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- Publication type:
- journal article
A genome‐wide CRISPR screen identifies USP1 as a novel regulator of the mammalian circadian clock.
- Published in:
- FEBS Journal, 2024, v. 291, n. 3, p. 445, doi. 10.1111/febs.16990
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- Publication type:
- Article
Use of three points to determine the accuracy of guided implantation.
- Published in:
- PLoS ONE, 2019, v. 14, n. 12, p. 1, doi. 10.1371/journal.pone.0225823
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- Publication type:
- Article
Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 12, p. 3490
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- Publication type:
- Article
Reconstruction of Three-Dimensional Tibiofemoral Kinematics Using Single-Plane Fluoroscopy and a Personalized Kinematic Model.
- Published in:
- Applied Sciences (2076-3417), 2021, v. 11, n. 20, p. 9415, doi. 10.3390/app11209415
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- Publication type:
- Article
An Automated Three-Dimensional Bone Pose Tracking Method Using Clinical Interleaved Biplane Fluoroscopy Systems: Application to the Knee.
- Published in:
- Applied Sciences (2076-3417), 2020, v. 10, n. 23, p. 8426, doi. 10.3390/app10238426
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- Publication type:
- Article
A functional spectrum of PROKR2 mutations identified in isolated hypogonadotropic hypogonadism.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 10, p. 1722, doi. 10.1093/hmg/ddad014
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- Publication type:
- Article
A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher-Neuhäuser syndrome.
- Published in:
- Molecular Medicine Reports, 2018, v. 18, n. 1, p. 261, doi. 10.3892/mmr.2018.8955
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- Publication type:
- Article
Functional analysis of SEMA3A variants identified in Chinese patients with isolated hypogonadotropic hypogonadism.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 5, p. 696, doi. 10.1111/cge.13723
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- Publication type:
- Article
Use of artificial intelligence to recover mandibular morphology after disease.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-73394-5
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- Publication type:
- Article
RNF216 Regulates the Migration of Immortalized GnRH Neurons by Suppressing Beclin1-Mediated Autophagy.
- Published in:
- Frontiers in Endocrinology, 2019, p. N.PAG, doi. 10.3389/fendo.2019.00012
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- Publication type:
- Article
SLIT2 Rare Sequencing Variants Identified in Idiopathic Hypogonadotropic Hypogonadism.
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- Hormone Research in Paediatrics, 2022, v. 95, n. 4, p. 384, doi. 10.1159/000525769
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- Publication type:
- Article
Locus-specific DNA methylation of Mecp2 promoter leads to autism-like phenotypes in mice.
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- Cell Death & Disease, 2020, v. 11, n. 2, p. 1, doi. 10.1038/s41419-020-2290-x
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- Publication type:
- Article
Contactin-associated protein-like 2 (CNTNAP2) mutations impair the essential α-secretase cleavages, leading to autism-like phenotypes.
- Published in:
- Signal Transduction & Targeted Therapy, 2024, p. 1, doi. 10.1038/s41392-024-01768-6
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- Publication type:
- Article
Oxytocin inhibits the activity of acid‐sensing ion channels through the vasopressin, V<sub>1A</sub> receptor in primary sensory neurons.
- Published in:
- British Journal of Pharmacology, 2014, v. 171, n. 12, p. 3065, doi. 10.1111/bph.12635
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- Publication type:
- Article
Oxytocin inhibits the activity of acid-sensing ion channels through the vasopressin, V1A receptor in primary sensory neurons.
- Published in:
- 2014
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- Publication type:
- journal article
Necdin regulates BMAL1 stability and circadian clock through SGT1-HSP90 chaperone machinery.
- Published in:
- Nucleic Acids Research, 2020, v. 48, n. 14, p. 7944, doi. 10.1093/nar/gkaa601
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- Publication type:
- Article
The Roles of Post-translational Modifications on α-Synuclein in the Pathogenesis of Parkinson's Diseases.
- Published in:
- Frontiers in Neuroscience, 2019, p. N.PAG, doi. 10.3389/fnins.2019.00381
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- Publication type:
- Article
Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2
- Published in:
- FEBS Letters, 2012, v. 586, n. 23, p. 4126, doi. 10.1016/j.febslet.2012.10.006
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- Publication type:
- Article
CNTNAP2 intracellular domain (CICD) generated by γ-secretase cleavage improves autism-related behaviors.
- Published in:
- Signal Transduction & Targeted Therapy, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41392-023-01431-6
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- Publication type:
- Article
Suppression of Akt-mTOR pathway rescued the social behavior in Cntnap2-deficient mice.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-39434-5
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- Publication type:
- Article
INTRA- AND INTER-RATER RELIABILITY OF <italic>IN VIVO</italic> THREE-DIMENSIONAL MEASUREMENT OF THE SCAPULAR POSES USING A MARKER-BASED LOCATOR.
- Published in:
- Biomedical Engineering: Applications, Basis & Communications, 2018, v. 30, n. 1, p. N.PAG, doi. 10.4015/S1016237218500011
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- Publication type:
- Article
BIOMECHANICAL STRATEGIES AND THE LOADS IN THE LOWER LIMBS DURING DOWNHILL WALKING WITH DIFFERENT INCLINATION ANGLES.
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- Biomedical Engineering: Applications, Basis & Communications, 2014, v. 26, n. 6, p. -1, doi. 10.4015/S1016237214500719
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- Publication type:
- Article
MUSCLE RECRUITMENT PATTERNS AND CONSISTENCY, AND THEIR CORRELATION WITH MOTOR TIME DURING A KARATE FRONT KICK.
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- Biomedical Engineering: Applications, Basis & Communications, 2013, v. 25, n. 6, p. -1, doi. 10.4015/S1016237213500592
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- Publication type:
- Article
TRUNK FLEXION STRATEGY AND THE LOADS IN THE LOWER LIMBS WHEN WALKING UP SURFACES OF DIFFERENT SLOPES.
- Published in:
- Biomedical Engineering: Applications, Basis & Communications, 2012, v. 24, n. 4, p. 295, doi. 10.4015/S1016237212500202
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- Publication type:
- Article
PATTERNS AND CONSISTENCY OF MUSCLE RECRUITMENT FOR A KARATE JAB.
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- Biomedical Engineering: Applications, Basis & Communications, 2011, v. 23, n. 1, p. 75, doi. 10.4015/S1016237211002396
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- Publication type:
- Article
FMRP binds Per1 mRNA and downregulates its protein expression in mice.
- Published in:
- Molecular Brain, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13041-023-01023-z
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- Publication type:
- Article