Found: 22
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Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2024, v. 16, n. 2, p. 211, doi. 10.4274/jcrpe.galenos.2022.2022-4-14
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- Publication type:
- Article
Selection of Novel Reference Genes by RNA-Seq and Their Evaluation for Normalising Real-Time qPCR Expression Data of Anthocyanin-Related Genes in Lettuce and Wild Relatives.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 3052, doi. 10.3390/ijms24033052
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- Publication type:
- Article
Molecular Basis of the Schuurs–Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 17, p. 9649, doi. 10.3390/ijms23179649
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- Article
More Than One HMG-CoA Lyase: The Classical Mitochondrial Enzyme Plus the Peroxisomal and the Cytosolic Ones.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 24, p. 6124, doi. 10.3390/ijms20246124
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- Article
La obligación de revelar esquemas de planeación fiscal agresiva o abusiva en el ordenamiento colombiano.
- Published in:
- Revista del ICDT, 2018, n. 78, p. 199
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- Publication type:
- Article
Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1826
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- Publication type:
- Article
Heart Disease Characterization and Myocardial Strain Analysis in Patients with PACS1 Neurodevelopmental Disorder.
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- Journal of Clinical Medicine, 2023, v. 12, n. 12, p. 4052, doi. 10.3390/jcm12124052
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- Publication type:
- Article
Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway.
- Published in:
- Molecular Biology Reports, 2012, v. 39, n. 4, p. 4777, doi. 10.1007/s11033-011-1270-8
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- Publication type:
- Article
Targeted Gene Sequencing, Bone Health, and Body Composition in Cornelia de Lange Syndrome.
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- Applied Sciences (2076-3417), 2021, v. 11, n. 2, p. 710, doi. 10.3390/app11020710
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- Publication type:
- Article
Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 4, p. 405, doi. 10.1007/s10545-010-9097-3
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- Publication type:
- Article
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-94958-z
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- Publication type:
- Article
Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome.
- Published in:
- 2022
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- Publication type:
- journal article
A versatile PCR marker for pungency in Capsicum spp.
- Published in:
- Molecular Breeding, 2012, v. 30, n. 2, p. 889, doi. 10.1007/s11032-011-9672-9
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- Publication type:
- Article
Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.993064
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- Publication type:
- Article
Identification, validation and survey of a single nucleotide polymorphism (SNP) associated with pungency in Capsicum spp.
- Published in:
- Theoretical & Applied Genetics, 2007, v. 115, n. 7, p. 907, doi. 10.1007/s00122-007-0617-y
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- Publication type:
- Article
New inheritance studies related to Potato Virus Y (PVY) resistance in Capsicum annuum L. ‘Serrano Criollo de Morelos-334’.
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- Euphytica, 2006, v. 151, n. 1, p. 95, doi. 10.1007/s10681-006-9132-5
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- Publication type:
- Article
Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. E520, doi. 10.1002/humu.20966
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- Publication type:
- Article
Chemical Composition, Antimicrobial and Antioxidant Activities of the Essential Oil of Bursera graveolens (Burseraceae) From Perú.
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- Indian Journal of Pharmaceutical Education & Research, 2017, v. 51, p. S429, doi. 10.5530/ijper.51.3s.62
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- Publication type:
- Article
Serviços Ecossistêmicos da Geodiversidade: Avaliação e propostas de valoração em locais de interesse geológico do Parque Nacional de Ubajara, Ceará, Brasil.
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- Caderno de Geografia, 2020, v. 30, n. 62, p. 788, doi. 10.5752/p.2318-2962.2020v30n62p788
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- Publication type:
- Article
A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome.
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- Genes, 2022, v. 13, n. 8, p. 1413, doi. 10.3390/genes13081413
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- Publication type:
- Article
Evolución de la calidad del paisaje a partir del desarrollo turístico en Cayo Santa María (Villa Clara, Cuba).
- Published in:
- Boletín de la Asociación de Geógrafos Españoles, 2018, n. 78, p. 444, doi. 10.21138/bage.2720
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- Publication type:
- Article
Cinética de descontaminación de aguas de curtiembre utilizando biofloculantes.
- Published in:
- Tecnología y Ciencias del Agua, 2022, v. 13, n. 6, p. 1, doi. 10.24850/j-tyca-13-06-01
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- Publication type:
- Article