Front & Back Matter.
- Published in:
- Molecular Syndromology, 2012, v. 2, n. 2, p. X, doi. 10.1159/000336788
- Publication type:
- Article
Works matching IS 16618769 AND DT 2012 AND VI 2 AND IP 2
Results: 8
1
2
First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome.
- Published in:
- Molecular Syndromology, 2012, v. 2, n. 2, p. 53, doi. 10.1159/000335545
- By:
- Publication type:
- Article
3
Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability.
- Published in:
- Molecular Syndromology, 2012, v. 2, n. 2, p. 60, doi. 10.1159/000335159
- By:
- Publication type:
- Article
4
Searching for Copy Number Changes in Nonsyndromic X-Linked Intellectual Disability.
- Published in:
- Molecular Syndromology, 2012, v. 2, n. 2, p. 64, doi. 10.1159/000334289
- By:
- Publication type:
- Article
5
Recurrent Transmission of a 17q12 Microdeletion and a Variable Clinical Spectrum.
- Published in:
- Molecular Syndromology, 2012, v. 2, n. 2, p. 72, doi. 10.1159/000335344
- By:
- Publication type:
- Article
6
Novel Tandem Duplication in Exon 1 of the SNURF/SNRPN Gene in a Child with Transient Excessive Eating Behaviour and Weight Gain.
- Published in:
- Molecular Syndromology, 2012, v. 2, n. 2, p. 76, doi. 10.1159/000335220
- By:
- Publication type:
- Article
7
Differences in Copy Number Variation between Discordant Monozygotic Twins as a Model for Exploring Chromosomal Mosaicism in Congenital Heart Defects.
- Published in:
- Molecular Syndromology, 2012, v. 2, n. 2, p. 81, doi. 10.1159/000335284
- By:
- Publication type:
- Article
8
Unique Combination of 22q11 and 14qter Microdeletion Syndromes Detected Using Oligonucleotide Array-CGH.
- Published in:
- Molecular Syndromology, 2012, v. 2, n. 2, p. 88, doi. 10.1159/000335334
- By:
- Publication type:
- Article