Found: 17
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Workload measurement for molecular genetics laboratory: A survey study.
- Published in:
- PLoS ONE, 2018, v. 13, n. 11, p. 1, doi. 10.1371/journal.pone.0206855
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- Publication type:
- Article
The FMR1 CGG repeat test is not a candidate prescreening tool for identifying women with a high probability of being carriers of BRCA mutations.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 280, doi. 10.1038/ejhg.2013.193
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- Publication type:
- Article
Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome.
- Published in:
- Genes, 2023, v. 14, n. 2, p. 295, doi. 10.3390/genes14020295
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- Publication type:
- Article
FRAXE mutation in a mentally retarded subject and in his phenotypically normal twin brother.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 3, p. 157, doi. 10.1038/sj.ejhg.5200425
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- Publication type:
- Article
Effect of Nerve Growth Factor on Glucose Utilization and Nucleotide Content of Pheochromocytoma Cells (Clone PC12).
- Published in:
- Journal of Neurochemistry, 1986, v. 47, n. 2, p. 375, doi. 10.1111/j.1471-4159.1986.tb04512.x
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- Publication type:
- Article
ASPECTOS INFORMATIVOS DEL LENGUAJE VAGO.
- Published in:
- Lenguas Modernas, 2014, n. 43, p. 27
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- Publication type:
- Article
Mutations in GDI1 are responsible for X-linked non-specific mental retardation.
- Published in:
- 1998
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- Publication type:
- Erratum
Mutations in GDI1 are responsible for X-linked non-specific mental retardation.
- Published in:
- Nature Genetics, 1998, v. 19, n. 2, p. 134, doi. 10.1038/487
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- Publication type:
- Article
Array CGH defined interstitial deletion on chromosome 14: a new case.
- Published in:
- 2010
- By:
- Publication type:
- journal article
FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3-q28 in a male and his mother.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 221, doi. 10.1002/ajmg.a.33515
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- Publication type:
- Article
MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting.
- Published in:
- BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-79
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- Publication type:
- Article
FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene.
- Published in:
- Frontiers in Genetics, 2018, p. N.PAG, doi. 10.3389/fgene.2018.00442
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- Publication type:
- Article
Aortic dilation in Sotos syndrome: An underestimated feature?
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1819, doi. 10.1002/ajmg.a.61591
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- Publication type:
- Article
Paternal Uniparental Disomy Chromosome 14-Like Syndrome due a Maternal De Novo 160 kb Deletion at the 14q32.2 Region Not Encompassing the IG- and the MEG3-DMRs: Patient Report and Genotype-Phenotype Correlation.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3130, doi. 10.1002/ajmg.a.37293
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- Publication type:
- Article
14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1427, doi. 10.1002/ajmg.a.35334
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- Publication type:
- Article
Deletion of NSD1 exon 14 in Sotos syndrome: first description.
- Published in:
- Journal of Genetics, 2011, v. 90, n. 1, p. 119, doi. 10.1007/s12041-011-0017-6
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- Publication type:
- Article
Novel missense mutation (L1917P) involving sac-domain of NSD1 gene in a patient with Sotos syndrome.
- Published in:
- Journal of Genetics, 2011, v. 90, n. 1, p. 147, doi. 10.1007/s12041-011-0032-7
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- Publication type:
- Article