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Molecular Syndromology 2011, Vol. 2, No. 2
Original Article
First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome
J. Beygo; K. Buiting; S. Seland; H.-J. Lüdecke; U. Hehr; C. Lich; B. Prager; D.R. Lohmann; D. Wieczorek
Mol Syndromol (2012) 2 (2): 53–59.
https://doi.org/10.1159/000335545
Short Report
Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability
Mol Syndromol (2012) 2 (2): 60–63.
https://doi.org/10.1159/000335159
Original Article
Searching for Copy Number Changes in Nonsyndromic X-Linked Intellectual Disability
G.E. Utine; P.Ö. Kiper; Y. Alanay; G. Haliloğlu; D. Aktaş; K. Boduroğlu; E. Tunçbilek; M. Alikaşifoğlu
Mol Syndromol (2012) 2 (2): 64–71.
https://doi.org/10.1159/000334289
Short Report
Recurrent Transmission of a 17q12 Microdeletion and a Variable Clinical Spectrum
Topic Article Package:
Topic Article Package: Diabetes
Mol Syndromol (2012) 2 (2): 72–75.
https://doi.org/10.1159/000335344
Original Article
Case Report
Unique Combination of 22q11 and 14qter Microdeletion Syndromes Detected Using Oligonucleotide Array-CGH
Mol Syndromol (2012) 2 (2): 88–93.
https://doi.org/10.1159/000335334
