Found: 18
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Ganglioglioma, Epilepsy, and Intellectual Impairment due to Familial TSC1 Deletion.
- Published in:
- Journal of Child Neurology, 2018, v. 33, n. 7, p. 482, doi. 10.1177/0883073818767036
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- Article
A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures.
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- Neurogenetics, 2020, v. 21, n. 4, p. 259, doi. 10.1007/s10048-020-00615-4
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- Article
A novel severe N-terminal splice site KISS1R gene mutation causes hypogonadotropic hypogonadism but enables a normal development of neonatal external genitalia.
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- European Journal of Endocrinology, 2012, v. 167, n. 2, p. 209, doi. 10.1530/EJE-12-0127
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- Article
Preimplantation genetic testing (PGT) for copy number variants of uncertain significance (CNV- VUS) in the genomic era: to do or not to do?
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- Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 3, p. 719, doi. 10.1007/s10815-020-02055-3
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- Article
The Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Gene VRK1 Regulates Neuronal Migration through an Amyloid-β Precursor Protein-Dependent Mechanism.
- Published in:
- Journal of Neuroscience, 2015, v. 35, n. 3, p. 936, doi. 10.1523/JNEUROSCI.1998-14.2015
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- Article
Snord 3A: A Molecular Marker and Modulator of Prion Disease Progression.
- Published in:
- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0054433
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- Article
The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSD.
- Published in:
- Endocrine (1355008X), 2020, v. 69, n. 3, p. 650, doi. 10.1007/s12020-020-02327-z
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- Article
The yield of chromosomal microarray testing for cases of abnormal fetal head circumference.
- Published in:
- Journal of Perinatal Medicine, 2020, v. 48, n. 6, p. 553, doi. 10.1515/jpm-2020-0048
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- Article
Microarray analysis has no additional value in fetal aberrant right subclavian artery: description of 268 pregnancies and systematic literature review.
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- 2019
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- Publication type:
- journal article
A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis.
- Published in:
- 2015
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- Publication type:
- journal article
A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD).
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2801, doi. 10.1002/ajmg.a.34240
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- Article
What have we learned from 691 prenatal chromosomal microarrays for ventricular septal defects?
- Published in:
- 2020
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- Publication type:
- journal article
Combining cytogenetic and genomic technologies for deciphering challenging complex chromosomal rearrangements.
- Published in:
- Molecular Genetics & Genomics, 2022, v. 297, n. 4, p. 925, doi. 10.1007/s00438-022-01898-y
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- Publication type:
- Article
Incomplete methylation of a germ cell tumor (Seminoma) in a Prader‐Willi male.
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- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 5, p. 811, doi. 10.1002/mgg3.448
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- Publication type:
- Article
SHaploseek is a sequencing-only, high-resolution method for comprehensive preimplantation genetic testing.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-45292-z
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- Publication type:
- Article
SHaploseek is a sequencing-only, high-resolution method for comprehensive preimplantation genetic testing.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-45292-z
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- Publication type:
- Article
Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis.
- Published in:
- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0138893
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- Publication type:
- Article
TODRA, a lncRNA at the RAD51 Locus, Is Oppositely Regulated to RAD51, and Enhances RAD51-Dependent DSB (Double Strand Break) Repair.
- Published in:
- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0134120
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- Article