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β-Glucuronidase, Lipase and Esterase in the Testis of the Cryptorchid Rat.
- Published in:
- Nature, 1958, v. 181, n. 4603, p. 186, doi. 10.1038/181186a0
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- Publication type:
- Article
Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy.
- Published in:
- Life Science Alliance, 2023, v. 6, n. 8, p. 1, doi. 10.26508/lsa.202302025
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- Publication type:
- Article
Symbolic model checking quantum circuits in Maude.
- Published in:
- PeerJ Computer Science, 2024, p. 1, doi. 10.7717/peerj-cs.2098
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- Publication type:
- Article
Hybrid post-quantum Transport Layer Security formal analysis in Maude-NPA and its parallel version.
- Published in:
- PeerJ Computer Science, 2023, p. 1, doi. 10.7717/peerj-cs.1556
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- Publication type:
- Article
Modelling and verification of post-quantum key encapsulation mechanisms using Maude.
- Published in:
- PeerJ Computer Science, 2023, p. 1, doi. 10.7717/peerj-cs.1547
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- Publication type:
- Article
Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.
- Published in:
- Scientific Reports, 2014, p. 1, doi. 10.1038/srep07132
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- Publication type:
- Article
Novel compound heterozygous LIAS mutations cause glycine encephalopathy.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 10, p. 631, doi. 10.1038/jhg.2015.72
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- Publication type:
- Article
Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 6, p. 391, doi. 10.1038/jhg.2013.25
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- Publication type:
- Article
THE EFFECT OF UNILATERAL AND BILATERAL CRYPTORCHIDISMS UPON THE ACTIVITIES OF β-GLUCURONIDASE, LIPASE AND ESTERASE IN THE RAT TESTIS.
- Published in:
- Pathology International, 1958, v. 8, n. 2, p. 113, doi. 10.1111/j.1440-1827.1958.tb02648.x
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- Publication type:
- Article
Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 3, p. 207, doi. 10.1038/jhg.2012.7
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- Publication type:
- Article
De novo SOX11 mutations cause Coffin-Siris syndrome.
- Published in:
- Nature Communications, 2014, v. 5, n. 6, p. 4011, doi. 10.1038/ncomms5011
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- Publication type:
- Article
Reply to "Reduced CYFIP2 Stability by Arg87 Variants Causing Human Neurological Disorders".
- Published in:
- 2019
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- Publication type:
- letter
Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome.
- Published in:
- 2018
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- Publication type:
- journal article
De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy.
- Published in:
- 2018
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- Publication type:
- journal article
Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.
- Published in:
- Annals of Neurology, 2015, v. 78, n. 3, p. 375, doi. 10.1002/ana.24444
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- Publication type:
- Article
Short-lasting unilateral neuralgiform headache attacks with ispilateral facial flushing is a new variant of paroxysmal extreme pain disorder.
- Published in:
- Journal of Headache & Pain, 2015, v. 16, p. 1, doi. 10.1186/s10194-015-0519-3
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- Publication type:
- Article
<italic>De novo</italic> variants in <italic>CAMK2A</italic> and <italic>CAMK2B</italic> cause neurodevelopmental disorders.
- Published in:
- Annals of Clinical & Translational Neurology, 2018, v. 5, n. 3, p. 280, doi. 10.1002/acn3.528
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- Publication type:
- Article
A Layered and Parallelized Method of Eventual Model Checking.
- Published in:
- Information (2078-2489), 2023, v. 14, n. 7, p. 384, doi. 10.3390/info14070384
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- Publication type:
- Article
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.
- Published in:
- Nature Genetics, 2008, v. 40, n. 6, p. 782, doi. 10.1038/ng.150
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- Publication type:
- Article
Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 5, p. 590, doi. 10.1111/cge.14292
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- Publication type:
- Article
Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 6, p. 722, doi. 10.1111/cge.14066
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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.
- Published in:
- Clinical Genetics, 2018, v. 94, n. 6, p. 548, doi. 10.1111/cge.13423
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- Publication type:
- Article
The influence of Bouba- and Kiki-like shape on perceived taste of chocolate pieces.
- Published in:
- Frontiers in Psychology, 2023, p. 1, doi. 10.3389/fpsyg.2023.1170674
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- Publication type:
- Article
Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-23453-w
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- Publication type:
- Article
<i>FOXC2</i> Mutations in Familial and Sporadic Spinal Extradural Arachnoid Cyst.
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0080548
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- Publication type:
- Article
A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia.
- Published in:
- British Journal of Haematology, 2018, v. 181, n. 6, p. 843, doi. 10.1111/bjh.14710
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- Publication type:
- Article
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant.
- Published in:
- Human Genetics, 2022, v. 141, n. 2, p. 283, doi. 10.1007/s00439-021-02416-7
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- Publication type:
- Article
A hemizygous GYG2 mutation and Leigh syndrome: a possible link?
- Published in:
- Human Genetics, 2014, v. 133, n. 2, p. 225, doi. 10.1007/s00439-013-1372-6
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- Publication type:
- Article
Crystallization of the Ets1-Runx1-CBFβ-DNA complex formed on the TCRα gene enhancer.
- Published in:
- Acta Crystallographica: Section F, Structural Biology Communications, 2014, v. 70, n. 10, p. 1380, doi. 10.1107/S2053230X14018470
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- Publication type:
- Article
Specifying and Model Checking Distributed Control Algorithms at Meta-level.
- Published in:
- Computer Journal, 2022, v. 65, n. 12, p. 2998, doi. 10.1093/comjnl/bxab122
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- Publication type:
- Article
Divide & Conquer Approach to Leads-to Model Checking.
- Published in:
- Computer Journal, 2022, v. 65, n. 6, p. 1353, doi. 10.1093/comjnl/bxaa183
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- Publication type:
- Article
Structural basis of the regulation of the normal and oncogenic methylation of nucleosomal histone H3 Lys36 by NSD2.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-26913-5
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- Publication type:
- Article
A MORE FAITHFUL FORMAL DEFINITION OF THE DESIRED PROPERTY FOR DISTRIBUTED SNAPSHOT ALGORITHMS TO MODEL CHECK THE PROPERTY.
- Published in:
- Computing & Informatics, 2019, v. 38, n. 5, p. 1009, doi. 10.31577/cai_2019_5_1009
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- Publication type:
- Article
Backbone Dynamics of the c-Myb DNA-Binding Domain Complexed with a Specific DNA1.
- Published in:
- Journal of Biochemistry, 2000, v. 127, n. 6, p. 945, doi. 10.1093/oxfordjournals.jbchem.a022710
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- Publication type:
- Article
Foxo1 links insulin signaling to C/EBPα and regulates gluconeogenesis during liver development.
- Published in:
- EMBO Journal, 2007, v. 26, n. 15, p. 3607, doi. 10.1038/sj.emboj.7601784
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- Publication type:
- Article
A divide and conquer approach to leads‐to‐model checking.
- Published in:
- ITNOW, 2021, v. 63, n. 2, p. 66, doi. 10.1093/itnow/bwab063
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- Publication type:
- Article
A Divide and Conquer Approach to Eventual Model Checking.
- Published in:
- Mathematics (2227-7390), 2021, v. 9, n. 4, p. 368, doi. 10.3390/math9040368
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- Publication type:
- Article
Structural basis of transcription regulation by CNC family transcription factor, Nrf2.
- Published in:
- Nucleic Acids Research, 2022, v. 50, n. 21, p. 12543, doi. 10.1093/nar/gkac1102
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- Publication type:
- Article
Phosphorylation of an intrinsically disordered region of Ets1 shifts a multi-modal interaction ensemble to an auto-inhibitory state.
- Published in:
- Nucleic Acids Research, 2018, v. 46, n. 5, p. 2243, doi. 10.1093/nar/gkx1297
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- Publication type:
- Article
Structure of the human Bre1 complex bound to the nucleosome.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-46910-8
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- Publication type:
- Article
Molecular mechanisms of cooperative binding of transcription factors Runx1–CBFβ–Ets1 on the TCRα gene enhancer.
- Published in:
- PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0172654
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- Publication type:
- Article
On Proving Operational Termination Incrementally with Modular Conditional Dependency Pairs.
- Published in:
- IAENG International Journal of Computer Science, 2013, v. 40, n. 2, p. 117
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- Publication type:
- Article
Filling a cavity dramatically increases pressure stability of the c-Myb R2 subdomain.
- Published in:
- Proteins, 2001, v. 45, n. 1, p. 96, doi. 10.1002/prot.1128
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- Publication type:
- Article
Formal Verification of Multitask Hybrid Systems by the OTS/CafeOBJ Method.
- Published in:
- International Journal of Software Engineering & Knowledge Engineering, 2021, v. 31, n. 11/12, p. 1541, doi. 10.1142/S0218194021400118
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- Publication type:
- Article
A Generic Approach on How to Formally Specify and Model Check Path Finding Algorithms: Dijkstra, A* and LPA*.
- Published in:
- International Journal of Software Engineering & Knowledge Engineering, 2020, v. 30, n. 10, p. 1481, doi. 10.1142/S0218194020400215
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- Publication type:
- Article
PROOF SCORE APPROACH TO ANALYSIS OF ELECTRONIC COMMERCE PROTOCOLS.
- Published in:
- International Journal of Software Engineering & Knowledge Engineering, 2010, v. 20, n. 2, p. 253, doi. 10.1142/S0218194010004712
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- Publication type:
- Article
CRÈME:: AN AUTOMATIC INVARIANT PROVER OF BEHAVIORAL SPECIFICATIONS.
- Published in:
- International Journal of Software Engineering & Knowledge Engineering, 2007, v. 17, n. 6, p. 783, doi. 10.1142/S0218194007003458
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- Publication type:
- Article
SPECIFICATION AND VERIFICATION OF WORKFLOWS WITH RBAC MECHANISM AND SoD CONSTRAINTS.
- Published in:
- International Journal of Software Engineering & Knowledge Engineering, 2007, v. 17, n. 1, p. 3, doi. 10.1142/S0218194007003124
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- Publication type:
- Article
The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype.
- Published in:
- Human Mutation, 2020, v. 41, n. 3, p. 591, doi. 10.1002/humu.23964
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- Publication type:
- Article