A Female Patient with FMR1 Premutation and Mosaic X Chromosome Aneuploidy and Two Sons with Intellectual Disability.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 2, p. 110, doi. 10.1159/000453060
- By:
- Publication type:
- Article
Works matching IS 16618769 AND DT 2017 AND VI 8 AND IP 2
Results: 9
1
2
A Novel Mutation in PITX2 in a Patient with Axenfeld-Rieger Syndrome.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 2, p. 107, doi. 10.1159/000454963
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- Publication type:
- Article
3
First Two Cases of Bloom Syndrome in Russia: Lack of Skin Manifestations in a BLM c.1642C>T (p.Q548X) Homozygote as a Likely Cause of Underdiagnosis.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 2, p. 103, doi. 10.1159/000454820
- By:
- Publication type:
- Article
4
Familial 5q12.3 Microdeletion: Evidence for a Locus Associated with Epilepsy.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 2, p. 98, doi. 10.1159/000454725
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- Publication type:
- Article
5
Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 2, p. 93, doi. 10.1159/000455028
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- Publication type:
- Article
6
Hippocampal Characteristics and Invariant Sequence Elements Distribution of GLRA2 and GLRA3 C-to-U Editing.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 2, p. 85, doi. 10.1159/000453300
- By:
- Publication type:
- Article
7
A Novel Heterozygous Intragenic Sequence Variant in DLX6 Probably Underlies First Case of Autosomal Dominant Split-Hand/Foot Malformation Type 1.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 2, p. 79, doi. 10.1159/000453350
- By:
- Publication type:
- Article
8
Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 2, p. 58, doi. 10.1159/000455752
- By:
- Publication type:
- Article
9
Retrotransposing Gremlins May Disrupt Our Brain’s Genomes.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 2, p. 55, doi. 10.1159/000453247
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- Publication type:
- Article