Cleidocranial dysplasia: clinical and molecular genetics

per Mundlos, S.
Publicat 1999

Genetic Disorders of the Skeleton: A Developmental Approach

per Kornak, Uwe, Mundlos, Stefan
Publicat 2003

Monitoring enzyme replacement treatment in exocrine pancreatic insufficiency using the cholesteryl octanoate breath test.

per Mundlos, S, Kühnelt, P, Adler, G
Publicat 1990

Genes and quadrupedal locomotion in humans

per Humphrey, Nicholas, Mundlos, Stefan, Türkmen, Seval
Publicat 2008

Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies

per Köhler, Sebastian, Schulz, Marcel H., Krawitz, Peter, Bauer, Sebastian, Dölken, Sandra, Ott, Claus E., Mundlos, Christine, Horn, Denise, Mundlos, Stefan, Robinson, Peter N.
Publicat 2009

Molecular genetics of intestinal glucose transport.

per Wright, E M, Turk, E, Zabel, B, Mundlos, S, Dyer, J
Publicat 1991

Receptor tyrosine kinase-like orphan receptor 2 (ROR2) and Indian hedgehog regulate digit outgrowth mediated by the phalanx-forming region

per Witte, Florian, Chan, Danny, Economides, Aris N., Mundlos, Stefan, Stricker, Sigmar
Publicat 2010

Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity.

per Ramesar, R S, Greenberg, J, Martin, R, Goliath, R, Bardien, S, Mundlos, S, Beighton, P
Publicat 1996

Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p

per Türkmen, S, Demirhan, O, Hoffmann, K, Diers, A, Zimmer, C, Sperling, K, Mundlos, S
Publicat 2006

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein‐Coding Regions

per Lelieveld, Stefan H., Spielmann, Malte, Mundlos, Stefan, Veltman, Joris A., Gilissen, Christian
Publicat a Hum Mutat (2015)

A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data

per Heinrich, Verena, Kamphans, Tom, Mundlos, Stefan, Robinson, Peter N, Krawitz, Peter M
Publicat a Bioinformatics (2017)

The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

per Robinson, Peter N., Köhler, Sebastian, Bauer, Sebastian, Seelow, Dominik, Horn, Denise, Mundlos, Stefan
Publicat 2008

Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4

per Villavicencio-Lorini, Pablo, Klopocki, Eva, Trimborn, Marc, Koll, Randi, Mundlos, Stefan, Horn, Denise
Publicat 2013

A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia

per Türkmen, Seval, Spielmann, Malte, Güneş, Nilay, Knaus, Alexej, Flöttmann, Ricarda, Mundlos, Stefan, Tüysüz, Beyhan
Publicat a Mol Syndromol (2017)

High resolution 3D laboratory x-ray tomography data of femora from young, 1–14 day old C57BL/6 mice

per Emely L. Bortel, Georg N. Duda, Stefan Mundlos, Bettina M. Willie, Peter Fratzl, Paul Zaslansky
Publicat 2015-09-01

A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies

per Demirhan, O, Turkmen, S, Schwabe, G, Soyupak, S, Akgul, E, Tastemir, D, Karahan, D, Mundlos, S, Lehmann, K
Publicat 2005

High resolution 3D laboratory x-ray tomography data of femora from young, 1–14 day old C57BL/6 mice

per Bortel, Emely L., Duda, Georg N., Mundlos, Stefan, Willie, Bettina M., Fratzl, Peter, Zaslansky, Paul
Publicat a Data Brief (2015)

L1Base 2: more retrotransposition-active LINE-1s, more mammalian genomes

per Penzkofer, Tobias, Jäger, Marten, Figlerowicz, Marek, Badge, Richard, Mundlos, Stefan, Robinson, Peter N., Zemojtel, Tomasz
Publicat a Nucleic Acids Res (2017)

Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin

per Osswald Monika, Kossler Nadine, Kühnisch Jirko, Kolanczyk Mateusz, Stumpp Sabine, Thurisch Boris, Kornak Uwe, Mundlos Stefan
Publicat 2008-07-01

Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)

per Kjaer, K, Hansen, L, Schwabe, G, Marques-de-Faria, A, Eiberg, H, Mundlos, S, Tommerup, N, Rosenberg, T
Publicat 2005