Skip to Main Content
S. Karger AG Open Menu
header search
Search
Advanced Search
Skip Nav Destination

Issues

Volume 4, Issue 6
September 2013
Molecular Syndromology Cover Image for Volume 4, Issue 6
All Issues
ISSN 1661-8769
EISSN 1661-8777
In this Issue

Molecular Syndromology 2013, Vol. 4, No. 6

Editorial

Late Breaking Chromosomes
M. Poot
Mol Syndromol (2013) 4 (6): 255–256. https://doi.org/10.1159/000354281
View articletitled, SCM.SharedControls.Infrastructure.TitleDisplayModel?.Text
Open the PDF for in another window

Original Article

Mutations in the VEGFR3 Signaling Pathway Explain 36% of Familial Lymphedema
A. Mendola; M.J. Schlögel; A. Ghalamkarpour; A. Irrthum; H.L. Nguyen; E. Fastré; A. Bygum; C. van der Vleuten; C. Fagerberg; E. Baselga; I. Quere; J.B. Mulliken; L.M. Boon; P. Brouillard; M. Vikkula; The Lymphedema Research Group
Mol Syndromol (2013) 4 (6): 257–266. https://doi.org/10.1159/000354097
View articletitled, SCM.SharedControls.Infrastructure.TitleDisplayModel?.Text
Open the PDF for in another window
Array-CGH Analysis Suggests Genetic Heterogeneity in Rhombencephalosynapsis
F. Démurger; L. Pasquier; C. Dubourg; V. Dupé; I. Gicquel; C. Evain; L. Ratié; S. Jaillard; M. Beri; B. Leheup; J. Lespinasse; D. Martin-Coignard; S. Mercier; C. Quelin; P. Loget; P. Marcorelles; A. Laquerrière; C. Bendavid; S. Odent; V. David
Mol Syndromol (2013) 4 (6): 267–272. https://doi.org/10.1159/000353878
View articletitled, SCM.SharedControls.Infrastructure.TitleDisplayModel?.Text
Open the PDF for in another window
FTO and INSIG2 Genotyping Combined with Metabolic and Anthropometric Phenotyping of Morbidly Obese Patients
Topic Article Package: Topic Article Package: Diabetes
E. Burgdörfer; M. Korenkov; D. Jonas; D. Weise; T. Haaf; U. Zechner; O. Bartsch
Mol Syndromol (2013) 4 (6): 273–279. https://doi.org/10.1159/000353563
View articletitled, SCM.SharedControls.Infrastructure.TitleDisplayModel?.Text
Open the PDF for in another window

Case Report

Interstitial Deletions at 6q14.1q15 Associated with Developmental Delay and a Marfanoid Phenotype
R.B. Lowry; J.E. Chernos; M.S. Connelly; J.P.H. Wyse
Mol Syndromol (2013) 4 (6): 280–284. https://doi.org/10.1159/000354038
View articletitled, SCM.SharedControls.Infrastructure.TitleDisplayModel?.Text
Open the PDF for in another window
Delineation of a de novo 7q21.3q31.1 Deletion by CGH-SNP Arrays in a Girl with Multiple Congenital Anomalies Including Severe Glaucoma
L. Martínez-Jacobo; C. Córdova-Fletes; R. Ortiz-López; F. Rivas; C. Saucedo-Carrasco; A. Rojas-Martínez
Mol Syndromol (2013) 4 (6): 285–291. https://doi.org/10.1159/000353510
View articletitled, SCM.SharedControls.Infrastructure.TitleDisplayModel?.Text
Open the PDF for in another window
Cognitive Deficit, Learning Difficulties, Severe Behavioral Abnormalities and Healed Cleft Lip in a Patient with a 1.2-Mb Distal Microduplication at 22q11.2
L.A. Ribeiro-Bicudo; C. de Campos Legnaro; B.F. Gamba; R.M. Candido Sandri; A. Richieri-Costa
Mol Syndromol (2013) 4 (6): 292–296. https://doi.org/10.1159/000354095
View articletitled, SCM.SharedControls.Infrastructure.TitleDisplayModel?.Text
Open the PDF for in another window

Short Report

Complex Phenotype Associated with 17q21.31 Microdeletion
H. Dornelles-Wawruk; A. Pic-Taylor; C. Rosenberg; A.C.V. Krepischi; H.P.N. Safatle; I. Ferrari; J.F. Mazzeu
Mol Syndromol (2013) 4 (6): 297–301. https://doi.org/10.1159/000354120
View articletitled, SCM.SharedControls.Infrastructure.TitleDisplayModel?.Text
Open the PDF for in another window
Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2
O. Patat; C.M.A. van Ravenswaaij-Arts; J. Tantau; N. Corsten-Janssen; J.P. van Tintelen; T. Dijkhuizen; J. Kaplan; N. Chassaing
Mol Syndromol (2013) 4 (6): 302–305. https://doi.org/10.1159/000353727
View articletitled, SCM.SharedControls.Infrastructure.TitleDisplayModel?.Text
Open the PDF for in another window

 

Contents Vol. 4, 2013
Mol Syndromol (2013) 4 (6): I–IV. https://doi.org/10.1159/000347016
View articletitled, SCM.SharedControls.Infrastructure.TitleDisplayModel?.Text
Open the PDF for in another window
Long-Term Renal Transplant Success is Possible in Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome: A Case Report
Hereditary Spastic Paraplegy Associated with the AP4S1 Gene: A Case Series Highlighting Diagnostic Pitfalls and Phenotypic Variability
CRB2-Related Syndrome in Two New Patients: Three Novel Variants
A Novel Compound Heterozygous CYP27A1 Variant in Cerebrotendinous Xanthomatosis: A Case Report from a Non-Consanguineous Family
  • Online ISSN 1661-8777
  • Print ISSN 1661-8769
This Feature Is Available To Subscribers Only

or Create an Account

Close Modal
Close Modal