Found: 8
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Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01024-y
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- Publication type:
- Article
Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-3
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- Publication type:
- Article
Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.
- Published in:
- 2013
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- Publication type:
- journal article
A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0157-0
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- Publication type:
- Article
The expanding clinical phenotype of germline ABL1‐associated congenital heart defects and skeletal malformations syndrome.
- Published in:
- Human Mutation, 2020, v. 41, n. 10, p. 1738, doi. 10.1002/humu.24075
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- Publication type:
- Article
Haploinsufficiency of ANO6, NELL2 and DBX2 in a boy with intellectual disability and growth delay.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1890, doi. 10.1002/ajmg.a.37079
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- Publication type:
- Article
Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1622, doi. 10.1002/ajmg.a.36498
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- Publication type:
- Article
Hyperphagia, Mild Developmental Delay But Apparently No Structural Brain Anomalies in a Boy Without SOX 3 Expression.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1137, doi. 10.1002/ajmg.a.35823
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- Publication type:
- Article