Found: 14
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9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.
- Published in:
- Neurogenetics, 2019, v. 20, n. 3, p. 145, doi. 10.1007/s10048-019-00581-6
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- Publication type:
- Article
Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1358334
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- Publication type:
- Article
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 11, p. 5912, doi. 10.3390/ijms23115912
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- Article
Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 13, p. 1575, doi. 10.1002/pd.6271
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- Article
SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00631
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- Publication type:
- Article
When alpha spectrin null alleles meet low expression alpha spectrin polymorphisms.
- Published in:
- British Journal of Haematology, 2023, v. 203, n. 4, p. 684, doi. 10.1111/bjh.19038
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- Publication type:
- Article
New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-52
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- Publication type:
- Article
Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00955
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- Publication type:
- Article
13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome – case report and review of the literature.
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- 2018
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- Publication type:
- Case Study
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0126-7
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- Publication type:
- Article
Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiency.
- Published in:
- Human Mutation, 2020, v. 41, n. 5, p. 983, doi. 10.1002/humu.23988
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- Publication type:
- Article
Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2526, doi. 10.1002/ajmg.a.62345
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- Publication type:
- Article
Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: Clinical report and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 221, doi. 10.1002/ajmg.a.36815
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- Publication type:
- Article
Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1056
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- Publication type:
- Article