Found: 18
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Proximal Deletion 12q with a New Insight to Growth Retardation.
- Published in:
- 2020
- By:
- Publication type:
- Abstract
Novel PNKP mutations associated with reduced DNA single‐strand break repair and severe microcephaly, seizures, and developmental delay.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2295
- By:
- Publication type:
- Article
MLGA—a rapid and cost-efficient assay for gene copy-number analysis.
- Published in:
- Nucleic Acids Research, 2007, v. 35, n. 17, p. e115, doi. 10.1093/nar/gkm651
- By:
- Publication type:
- Article
Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 1, p. 10, doi. 10.1002/ajmg.b.32574
- By:
- Publication type:
- Article
Molecular and Clinical Characterization of 25 Individuals With Exonic Deletions of NRXN1 and Comprehensive Review of the Literature.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2013, v. 162B, n. 4, p. 388, doi. 10.1002/ajmg.b.32148
- By:
- Publication type:
- Article
De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1748, doi. 10.1002/ajmg.a.38840
- By:
- Publication type:
- Article
Whole ARX gene duplication is compatible with normal intellectual development.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2324, doi. 10.1002/ajmg.a.36564
- By:
- Publication type:
- Article
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1633, doi. 10.1002/ajmg.a.35423
- By:
- Publication type:
- Article
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 9, p. 959, doi. 10.1038/ejhg.2011.71
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- Publication type:
- Article
The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 5, p. 534, doi. 10.1038/ejhg.2010.215
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- Publication type:
- Article
Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 2, p. 143, doi. 10.1038/sj.ejhg.5201737
- By:
- Publication type:
- Article
A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 2, p. 325, doi. 10.1111/cge.13880
- By:
- Publication type:
- Article
Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 3, p. 436, doi. 10.1111/cge.13470
- By:
- Publication type:
- Article
Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.
- Published in:
- Human Mutation, 2017, v. 38, n. 10, p. 1394, doi. 10.1002/humu.23268
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- Publication type:
- Article
A Role for the Chromatin-Remodeling Factor BAZ1A in Neurodevelopment.
- Published in:
- Human Mutation, 2016, v. 37, n. 9, p. 964, doi. 10.1002/humu.23034
- By:
- Publication type:
- Article
Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array.
- Published in:
- Human Mutation, 2008, v. 29, n. 3, p. 398, doi. 10.1002/humu.20659
- By:
- Publication type:
- Article
A severe form of Noonan syndrome and autosomal dominant café-au-lait spots – evidence for different genetic origins.
- Published in:
- Acta Paediatrica, 2009, v. 98, n. 4, p. 693, doi. 10.1111/j.1651-2227.2008.01170.x
- By:
- Publication type:
- Article
Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms.
- Published in:
- Neurogenetics, 2011, v. 12, n. 1, p. 65, doi. 10.1007/s10048-010-0269-y
- By:
- Publication type:
- Article