Works matching IS 16618769 AND DT 2012 AND VI 3 AND IP 2
Results: 8
Mirror-Image Asymmetry in Monozygotic Twins with Kabuki Syndrome.
- Published in:
- Molecular Syndromology, 2012, v. 3, n. 2, p. 94, doi. 10.1159/000341251
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- Article
Trichohepatoenteric Syndrome: Founder Mutation in Asian Indians.
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- Molecular Syndromology, 2012, v. 3, n. 2, p. 89, doi. 10.1159/000339896
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- Article
Duplication of the Miller-Dieker Critical Region in a Patient with a Subtelomeric Unbalanced Translocation t(10;17)(p15.3;p13.3).
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- Molecular Syndromology, 2012, v. 3, n. 2, p. 82, doi. 10.1159/000339639
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- Article
Novel VANGL1 Gene Mutations in 144 Slovakian, Romanian and German Patients with Neural Tube Defects.
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- Molecular Syndromology, 2012, v. 3, n. 2, p. 76, doi. 10.1159/000339668
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- Article
5q31 Microdeletions: Definition of a Critical Region and Analysis of LRRTM2, a Candidate Gene for Intellectual Disability.
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- Molecular Syndromology, 2012, v. 3, n. 2, p. 68, doi. 10.1159/000341252
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- Article
Applying Genomic Analysis to Newborn Screening.
- Published in:
- Molecular Syndromology, 2012, v. 3, n. 2, p. 59, doi. 10.1159/000341253
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- Article
Genetic Dissection of Marfan Syndrome and Related Connective Tissue Disorders: An Update 2012.
- Published in:
- Molecular Syndromology, 2012, v. 3, n. 2, p. 47, doi. 10.1159/000339441
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- Publication type:
- Article
Beware of Hemizygous Deletions That May Unmask Deleterious Variants.
- Published in:
- Molecular Syndromology, 2012, v. 3, n. 2, p. 45, doi. 10.1159/000339564
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- Publication type:
- Article