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Genetics of child aggression, a systematic review.
- Published in:
- Translational Psychiatry, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41398-024-02870-7
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- Publication type:
- Article
Erratum to: Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.
- Published in:
- 2021
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- Publication type:
- corrected article
Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.
- Published in:
- 2021
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- Publication type:
- journal article
ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22389-5
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- Publication type:
- Article
SOFT syndrome in a patient from Chile.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 338, doi. 10.1002/ajmg.a.61015
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- Article
A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia.
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- British Journal of Haematology, 2018, v. 181, n. 6, p. 843, doi. 10.1111/bjh.14710
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- Publication type:
- Article
Quantum yields and potential energy surfaces: a theoretical study.
- Published in:
- Journal of Physical Organic Chemistry, 2007, v. 20, n. 11, p. 821, doi. 10.1002/poc.1245
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- Publication type:
- Article
Substituent effect of diarylethenes on IR spectra for application of non-destructive readout of photochromic recording.
- Published in:
- Journal of Physical Organic Chemistry, 2007, v. 20, n. 11, p. 998, doi. 10.1002/poc.1254
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- Publication type:
- Article
Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes.
- Published in:
- Translational Psychiatry, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41398-022-02033-6
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- Publication type:
- Article
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10482-9
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- Publication type:
- Article
Dynamics-Based Control and Path Planning Method for Long-Reach Coupled Tendon-Driven Manipulator.
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- Journal of Robotics & Mechatronics, 2024, v. 36, n. 1, p. 30, doi. 10.20965/jrm.2024.p0030
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- Publication type:
- Article
Enhancement of Control Stability Using Double Pulleys for Coupled Tendon-Driven Long-Reach Manipulator "Super Dragon".
- Published in:
- Journal of Robotics & Mechatronics, 2024, v. 36, n. 1, p. 21, doi. 10.20965/jrm.2024.p0021
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- Publication type:
- Article
Automatic Design of Serial Linkage Using Virtual Screw Joint.
- Published in:
- Journal of Robotics & Mechatronics, 2024, v. 36, n. 1, p. 149, doi. 10.20965/jrm.2024.p0149
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- Publication type:
- Article
Combination of dirty mass volume and APACHE II score predicts mortality in patients with colorectal perforation.
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- World Journal of Emergency Surgery, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13017-021-00359-y
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- Publication type:
- Article
Intestinal hypomotility due to longitudinal enterotomy can be alleviated by transverse closure.
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- Journal of Medical Investigation, 2023, v. 70, n. 1/2, p. 180, doi. 10.2152/jmi.70.180
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- Publication type:
- Article
RALA mutation in a patient with autism spectrum disorder and Noonan syndrome‐like phenotype.
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- Congenital Anomalies, 2019, v. 59, n. 6, p. 195, doi. 10.1111/cga.12327
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- Publication type:
- Article
The protective effect of epigallocatechin 3-gallate on mouse pancreatic islets via the Nrf2 pathway.
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- Surgery Today, 2019, v. 49, n. 6, p. 536, doi. 10.1007/s00595-019-1761-0
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- Publication type:
- Article
Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci.
- Published in:
- Nature Communications, 2017, v. 8, n. 2, p. 14519, doi. 10.1038/ncomms14519
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- Publication type:
- Article
Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia.
- Published in:
- Genome Biology, 2011, v. 12, n. 9, p. 1, doi. 10.1186/gb-2011-12-9-r92
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- Publication type:
- Article
GRIN2D variants in three cases of developmental and epileptic encephalopathy.
- Published in:
- Clinical Genetics, 2018, v. 94, n. 6, p. 538, doi. 10.1111/cge.13454
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- Publication type:
- Article
A novel CYCS mutation in the α‐helix of the CYCS C‐terminal domain causes non‐syndromic thrombocytopenia.
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- Clinical Genetics, 2018, v. 94, n. 6, p. 548, doi. 10.1111/cge.13423
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- Publication type:
- Article
Novel SUZ12 mutations in Weaver‐like syndrome.
- Published in:
- Clinical Genetics, 2018, v. 94, n. 5, p. 461, doi. 10.1111/cge.13415
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- Publication type:
- Article
A case of bipolar I disorder with a loss‐of‐function variant of schizophrenia risk gene SETD1A: possible expansion of the relevant clinical spectrum supported by a meta‐analysis.
- Published in:
- Psychiatry & Clinical Neurosciences, 2024, v. 78, n. 6, p. 374, doi. 10.1111/pcn.13669
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- Publication type:
- Article
Estimating contribution of rare non‐coding variants to neuropsychiatric disorders.
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- Psychiatry & Clinical Neurosciences, 2019, v. 73, n. 1, p. 2, doi. 10.1111/pcn.12774
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- Publication type:
- Article
Enrichment of deleterious variants of mitochondrial DNA polymerase gene ( POLG1) in bipolar disorder.
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- Psychiatry & Clinical Neurosciences, 2017, v. 71, n. 8, p. 518, doi. 10.1111/pcn.12496
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- Publication type:
- Article
Nominal association between a polymorphism in DGKH and bipolar disorder detected in a meta-analysis of East Asian case-control samples.
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- Psychiatry & Clinical Neurosciences, 2011, v. 65, n. 3, p. 280, doi. 10.1111/j.1440-1819.2011.02193.x
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- Publication type:
- Article
Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria.
- Published in:
- 2018
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- Publication type:
- Letter
Effective stepwise training and procedure standardization for young surgeons to perform laparoscopic left hepatectomy.
- Published in:
- 2017
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- Publication type:
- journal article
Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia.
- Published in:
- Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00131-9
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- Publication type:
- Article
MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 14, p. 2319, doi. 10.1093/hmg/ddz066
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- Publication type:
- Article
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.
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- Human Molecular Genetics, 2018, v. 27, n. 8, p. 1421, doi. 10.1093/hmg/ddy052
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- Publication type:
- Article
Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet's disease.
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- Arthritis Research & Therapy, 2019, v. 21, n. 1, p. N.PAG, doi. 10.1186/s13075-019-1928-5
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- Article
Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report.
- Published in:
- 2019
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- Publication type:
- journal article
Cover Picture: Practical Synthesis of Photochromic Diarylethenes in Integrated Flow Microreactor Systems (ChemSusChem 2/2012).
- Published in:
- ChemSusChem, 2012, v. 5, n. 2, p. 213, doi. 10.1002/cssc.201290004
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- Publication type:
- Article
Practical Synthesis of Photochromic Diarylethenes in Integrated Flow Microreactor Systems.
- Published in:
- ChemSusChem, 2012, v. 5, n. 2, p. 339, doi. 10.1002/cssc.201100376
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- Publication type:
- Article