Found: 14
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BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.
- Published in:
- EMBO Molecular Medicine, 2021, v. 13, n. 12, p. 1, doi. 10.15252/emmm.202013787
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- Publication type:
- Article
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.
- Published in:
- Nature Genetics, 2011, v. 43, n. 11, p. 1074, doi. 10.1038/ng.944
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- Publication type:
- Article
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
- Published in:
- Human Genetics, 2022, v. 141, n. 2, p. 257, doi. 10.1007/s00439-021-02412-x
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- Publication type:
- Article
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
- Published in:
- Human Genetics, 2018, v. 137, n. 5, p. 375, doi. 10.1007/s00439-018-1887-y
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- Publication type:
- Article
Second-trimester prenasal and prefrontal skin thickening - association with MECP2 triplication syndrome.
- Published in:
- 2013
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- Publication type:
- journal article
Second-trimester prenasal and prefrontal skin thickening-Association with MECP2 triplication syndrome.
- Published in:
- Journal of Clinical Ultrasound, 2013, v. 41, n. 7, p. 434, doi. 10.1002/jcu.22065
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- Publication type:
- Article
Stepwise sequential aneuploidy screening in clinical practice.
- Published in:
- Journal of Clinical Ultrasound, 2012, v. 40, n. 1, p. 26, doi. 10.1002/jcu.20898
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- Publication type:
- Article
Prenatal sonographic features of dyssegmental dysplasia Rolland-Desbuquois type.
- Published in:
- 2011
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- Publication type:
- journal article
First-trimester prenatal sonographic diagnosis of omphalocele-exstrophy-imperforate anus-spinal defects complex.
- Published in:
- 2009
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- Publication type:
- journal article
Jagged1 ( JAG1) mutations in patients with tetralogy of fallot or pulmonic stenosis.
- Published in:
- Human Mutation, 2010, v. 31, n. 5, p. 594, doi. 10.1002/humu.21231
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- Publication type:
- Article
Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1711, doi. 10.1002/ajmg.a.38854
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- Publication type:
- Article
Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1795, doi. 10.1002/ajmg.a.36524
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- Publication type:
- Article
Investigation of NRXN1 deletions: Clinical and molecular characterization.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 717, doi. 10.1002/ajmg.a.35780
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- Publication type:
- Article
Genotype-phenotype analysis of 4q deletion syndrome: Proposal of a critical region.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2139, doi. 10.1002/ajmg.a.35502
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- Publication type:
- Article