Found: 13
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Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 3, p. 1, doi. 10.1101/mcs.a005991
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- Publication type:
- Article
A novel mutation in EED associated with overgrowth.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 6, p. 339, doi. 10.1038/jhg.2015.26
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- Publication type:
- Article
Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-38782-1
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- Article
Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy.
- Published in:
- Brain: A Journal of Neurology, 2022, v. 145, n. 12, p. 4202, doi. 10.1093/brain/awac295
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- Article
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
- Published in:
- 2019
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- Publication type:
- Correction Notice
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-08800-2
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- Publication type:
- Article
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-06014-6
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- Publication type:
- Article
Loss of maternal EED results in postnatal overgrowth.
- Published in:
- Clinical Epigenetics, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13148-018-0526-8
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- Publication type:
- Article
Rare SUZ12 variants commonly cause an overgrowth phenotype.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 532, doi. 10.1002/ajmg.c.31748
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- Article
Phenotypic expansion and variable expressivity in individuals with JARID2‐related intellectual disability: A case series.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 2, p. 136, doi. 10.1111/cge.14149
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- Publication type:
- Article
Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies.
- Published in:
- Clinical Chemistry, 2022, v. 68, n. 9, p. 1177, doi. 10.1093/clinchem/hvac113
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- Publication type:
- Article
Haploinsufficiency of the basic helix–loop–helix transcription factor HAND2 causes congenital heart defects.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1263, doi. 10.1002/ajmg.a.61537
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- Publication type:
- Article
Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2360, doi. 10.1002/ajmg.a.36622
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- Publication type:
- Article