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Aneuploidy and DNA Methylation as Mirrored Features of Early Human Embryo Development.
- Published in:
- Genes, 2020, v. 11, n. 9, p. 1084, doi. 10.3390/genes11091084
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- Publication type:
- Article
NLRP7 variants in spontaneous abortions with multilocus imprinting disturbances from women with recurrent pregnancy loss.
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- Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 11, p. 2893, doi. 10.1007/s10815-021-02312-z
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- Publication type:
- Article
LINE-1 retrotransposon methylation in chorionic villi of first trimester miscarriages with aneuploidy.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 1, p. 139, doi. 10.1007/s10815-020-02003-1
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- Publication type:
- Article
Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0097-0
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- Publication type:
- Article
Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22.
- Published in:
- 2018
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- Publication type:
- Case Study
Identification of differentially methylated genes in first-trimester placentas with trisomy 16.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-021-04107-9
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- Publication type:
- Article
A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2395, doi. 10.1002/ajmg.a.40478
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- Publication type:
- Article
Skewed X-Chromosome Inactivation as a Possible Marker of X-Linked CNV in Women with Pregnancy Loss.
- Published in:
- Cytogenetic & Genome Research, 2022, v. 162, n. 3, p. 97, doi. 10.1159/000524342
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- Publication type:
- Article
Differential DNA Methylation of the IMMP2L Gene in Families with Maternally Inherited 7q31.1 Microdeletions is Associated with Intellectual Disability and Developmental Delay.
- Published in:
- Cytogenetic & Genome Research, 2021, v. 161, n. 3/4, p. 105, doi. 10.1159/000514491
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- Publication type:
- Article
Delineation of Clinical Manifestations of the Inherited Xq24 Microdeletion Segregating with sXCI in Mothers: Two Novel Cases with Distinct Phenotypes Ranging from UBE2A Deficiency Syndrome to Recurrent Pregnancy Loss.
- Published in:
- 2020
- By:
- Publication type:
- Abstract