Found: 18
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In vivo time-resolved autofluorescence measurements to test for glycation of human skin.
- Published in:
- Journal of Biomedical Optics, 2008, v. 13, n. 1, p. 14004, doi. 10.1117/1.2830658
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- Publication type:
- Article
Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1783, doi. 10.1002/ajmg.a.61281
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- Publication type:
- Article
Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencing.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 842, doi. 10.1002/ajmg.a.61096
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- Publication type:
- Article
Duodenal atresia in 17q12 microdeletion including HNF1B: A new associated malformation in this syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3076, doi. 10.1002/ajmg.a.36767
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- Publication type:
- Article
First report of a de novo 18q11.2 microdeletion including GATA6 associated with complex congenital heart disease and renal abnormalities.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1773, doi. 10.1002/ajmg.a.35974
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- Publication type:
- Article
Familial Microdeletion of 17q24.3 Upstream of SOX 9 Is Associated With Isolated Pierre Robin Sequence Due to Position Effect.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1167, doi. 10.1002/ajmg.a.35847
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- Publication type:
- Article
Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2871, doi. 10.1002/ajmg.a.34286
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- Publication type:
- Article
Cleft Lip and Palate in a Patient with 5q35.2-q35.3 Microdeletion: The Importance of Chromosomal Microarray Testing in the Craniofacial Clinic.
- Published in:
- 2013
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- Publication type:
- Case Study
Disruption of Glycerol Metabolism by RNAi Targeting of Genes Encoding Glycerol Kinase Results in a Range of Phenotype Severity in <i>Drosophila</i>.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0071664
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- Publication type:
- Article
Glycerol Hypersensitivity in a Drosophila Model for Glycerol Kinase Deficiency Is Affected by Mutations in Eye Pigmentation Genes.
- Published in:
- PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0031779
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- Publication type:
- Article
Glycerol kinase deficiency alters expression of genes involved in lipid metabolism, carbohydrate metabolism, and insulin signaling.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 6, p. 646, doi. 10.1038/sj.ejhg.5201801
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- Publication type:
- Article
Suicide risk in adolescents with fetal alcohol spectrum disorders.
- Published in:
- Birth Defects Research, 2019, v. 111, n. 12, p. 822, doi. 10.1002/bdr2.1465
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- Publication type:
- Article
Modeling craniofacial and skeletal congenital birth defects to advance therapies.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. R2, p. R86, doi. 10.1093/hmg/ddw171
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- Publication type:
- Article
SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
- Published in:
- Human Mutation, 2019, v. 40, n. 7, p. 908, doi. 10.1002/humu.23731
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- Publication type:
- Article
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
- Published in:
- Human Mutation, 2016, v. 37, n. 2, p. 148, doi. 10.1002/humu.22924
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- Publication type:
- Article
IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1.
- Published in:
- Human Mutation, 2004, v. 24, n. 3, p. 273, doi. 10.1002/humu.9269
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- Publication type:
- Article
Targeted disruption of glycerol kinase gene in mice: expression analysis in liver shows alterations in network partners related to glycerol kinase activity.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 3, p. 405, doi. 10.1093/hmg/ddi457
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- Publication type:
- Article
Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders.
- Published in:
- JAMA: Journal of the American Medical Association, 2014, v. 312, n. 18, p. 1880, doi. 10.1001/jama.2014.14604
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- Publication type:
- Article