A New Case of the Rare 10q22.3q23.2 Microdeletion Flanked by Low-Copy Repeats 3/4.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 3, p. 161, doi. 10.1159/000469965
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- Publication type:
- Article
Works matching IS 16618769 AND DT 2017 AND VI 8 AND IP 3
Results: 7
1
2
Molecular Characterization of Koolen De Vries Syndrome in Two Girls with Idiopathic Intellectual Disability from Central Brazil.
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- Molecular Syndromology, 2017, v. 8, n. 3, p. 155, doi. 10.1159/000456910
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- Publication type:
- Article
3
Novel Marfan Syndrome-Associated Mutation in the FBN1 Gene Caused by Parental Mosaicism and Leading to Abnormal Limb Patterning.
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- Molecular Syndromology, 2017, v. 8, n. 3, p. 148, doi. 10.1159/000467909
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- Publication type:
- Article
4
Variable Penetrance of the 15q11.2 BP1-BP2 Microduplication in a Family with Cognitive and Language Impairment.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 3, p. 139, doi. 10.1159/000468192
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- Publication type:
- Article
5
Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 3, p. 131, doi. 10.1159/000456062
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- Publication type:
- Article
6
Intragenic CNTNAP2 Deletions: A Bridge Too Far?
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 3, p. 118, doi. 10.1159/000456021
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- Publication type:
- Article
7
Of Simple and Complex Genome Rearrangements, Chromothripsis, Chromoanasynthesis, and Chromosome Chaos.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 3, p. 115, doi. 10.1159/000454964
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- Publication type:
- Article