Online First Articles
Articles are fully citable:
they have been allocated DOIs even though they have not been assigned yet to a specific issue.
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In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome
Wolff, D. ;
Endele, S. ;
Azzarello-Burri, S. ;
Hoyer, J. ;
Zweier, M. ;
Schanze, I. ;
Schmitt, B. ;
Rauch, A. ;
Reis, A. ;
Zweier, C. ;
Mol Syndromol (DOI:10.1159/000337323)
Published Online: March 16, 2012
Free Abstract Article (Fulltext)
Article (PDF 763 KB)
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Novel Compound Heterozygous Mutations in the Cathepsin K Gene in Japanese Female Siblings with Pyknodysostosis
Matsushita, M. ;
Kitoh, H. ;
Kaneko, H. ;
Mishima, K. ;
Itoh, Y. ;
Hattori, T. ;
Ishiguro, N.
Mol Syndromol (DOI:10.1159/000336581)
Published Online: March 6, 2012
Free Abstract Article (Fulltext)
Article (PDF 402 KB)
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A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome
Vulto-van Silfhout, A.T. ;
de Brouwer, A.P.M. ;
de Leeuw, N. ;
Obihara, C.C. ;
Brunner, H.G. ;
de Vries, B.B.A.
Mol Syndromol (DOI:10.1159/000336191)
Published Online: February 10, 2012
Free Abstract Article (Fulltext)
Article (PDF 426 KB)
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LEOPARD Syndrome Caused by Tyr279Cys Mutation in the PTPN11 Gene
Martínez-Quintana, E. ;
Rodríguez-González, F.
Mol Syndromol (DOI:10.1159/000335995)
Published Online: January 31, 2012
Free Abstract Article (Fulltext)
Article (PDF 356 KB)
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Update on Kleefstra Syndrome
Willemsen, M.H. ;
Vulto-van Silfhout, A.T. ;
Nillesen, W.M. ;
Wissink-Lindhout, W.M. ;
van Bokhoven, H. ;
Philip, N. ;
Berry-Kravis, E.M. ;
Kini, U. ;
van Ravenswaaij-Arts, C.M.A. ;
Delle Chiaie, B. ;
Innes, A.M.M. ;
Houge, G. ;
Kosonen, T. ;
Cremer, K. ;
Fannemel, M. ;
Stray-Pedersen, A. ;
Reardon, W. ;
Ignatius, J. ;
Lachlan, K. ;
Mircher, C. ;
Helderman van den Enden, P.T.J.M. ;
Mastebroek, M. ;
Cohn-Hokke, P.E. ;
Yntema, H.G. ;
Drunat, S. ;
Kleefstra, T.
Mol Syndromol (DOI:10.1159/000335648)
Published Online: January 24, 2012
Free Abstract Article (Fulltext)
Article (PDF 489 KB)
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Adult Phenotypes in Angelman- and Rett-Like Syndromes
Willemsen, M.H. ;
Rensen, J.H.M. ;
van Schrojenstein-Lantman de Valk, H.M.J. ;
Hamel, B.C.J. ;
Kleefstra, T.
Mol Syndromol (DOI:10.1159/000335661)
Published Online: January 13, 2012
Free Abstract Article (Fulltext)
Article (PDF 473 KB)
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Pitt-Hopkins Syndrome
Peippo, M. ;
Ignatius, J.
Mol Syndromol (DOI:10.1159/000335287)
Published Online: December 29, 2011
Free Abstract Article (Fulltext)
Article (PDF 624 KB)
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The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)
Phelan, K. ;
McDermid, H.E.
Mol Syndromol (DOI:10.1159/000334260)
Published Online: November 22, 2011
Free Abstract Article (Fulltext)
Article (PDF 801 KB)
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CDKL5-Related Disorders: From Clinical Description to Molecular Genetics
Bahi-Buisson, N. ;
Bienvenu, T.
Mol Syndromol (DOI:10.1159/000331333)
Published Online: September 13, 2011
Free Abstract Article (Fulltext)
Article (PDF 561 KB)
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Severe Intellectual Disability Associated with Recessive Defects in CNTNAP2 and NRXN1
Zweier, C.
Mol Syndromol (DOI:10.1159/000331270)
Published Online: September 8, 2011
Free Abstract Article (Fulltext)
Article (PDF 212 KB)
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Mild to Moderate Intellectual Disability and Significant Speech and Language Deficits in Patients with FOXP1 Deletions and Mutations
Horn, D.
Mol Syndromol (DOI:10.1159/000330916)
Published Online: August 30, 2011
Free Abstract Article (Fulltext)
Article (PDF 194 KB)
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Molecular and Clinical Aspects of Angelman Syndrome
Dagli, A. ;
Buiting, K. ;
Williams, C.A.
Mol Syndromol (DOI:10.1159/000328837)
Published Online: July 28, 2011
Free Abstract Article (Fulltext)
Article (PDF 517 KB)
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MECP2 Duplication Syndrome
Van Esch, H.
Mol Syndromol (DOI:10.1159/000329580)
Published Online: July 5, 2011
Free Abstract Article (Fulltext)
Article (PDF 200 KB)
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FOXG1-Related Disorders: From Clinical Description to Molecular Genetics
Florian, C. ;
Bahi-Buisson, N. ;
Bienvenu, T.
Mol Syndromol (DOI:10.1159/000327329)
Published Online: April 29, 2011
Free Abstract Article (Fulltext)
Article (PDF 349 KB)
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