Cleidocranial dysplasia: clinical and molecular genetics

Por Mundlos, S.
Publicado em 1999

Genetic Disorders of the Skeleton: A Developmental Approach

Por Kornak, Uwe, Mundlos, Stefan
Publicado em 2003

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

Por Mundlos, S, Kühnelt, P, Adler, G
Publicado em 1990

Genes and quadrupedal locomotion in humans

Por Humphrey, Nicholas, Mundlos, Stefan, Türkmen, Seval
Publicado em 2008

Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies

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

Molecular genetics of intestinal glucose transport.

Por Wright, E M, Turk, E, Zabel, B, Mundlos, S, Dyer, J
Publicado em 1991

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

Por Witte, Florian, Chan, Danny, Economides, Aris N., Mundlos, Stefan, Stricker, Sigmar
Publicado em 2010

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

Por Ramesar, R S, Greenberg, J, Martin, R, Goliath, R, Bardien, S, Mundlos, S, Beighton, P
Publicado em 1996

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

Por Türkmen, S, Demirhan, O, Hoffmann, K, Diers, A, Zimmer, C, Sperling, K, Mundlos, S
Publicado em 2006

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

Por Lelieveld, Stefan H., Spielmann, Malte, Mundlos, Stefan, Veltman, Joris A., Gilissen, Christian
Publicado no Hum Mutat (2015)

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

Por Heinrich, Verena, Kamphans, Tom, Mundlos, Stefan, Robinson, Peter N, Krawitz, Peter M
Publicado no Bioinformatics (2017)

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

Por Robinson, Peter N., Köhler, Sebastian, Bauer, Sebastian, Seelow, Dominik, Horn, Denise, Mundlos, Stefan
Publicado em 2008

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

Por Villavicencio-Lorini, Pablo, Klopocki, Eva, Trimborn, Marc, Koll, Randi, Mundlos, Stefan, Horn, Denise
Publicado em 2013

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

Por Türkmen, Seval, Spielmann, Malte, Güneş, Nilay, Knaus, Alexej, Flöttmann, Ricarda, Mundlos, Stefan, Tüysüz, Beyhan
Publicado no Mol Syndromol (2017)

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

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

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

Por Demirhan, O, Turkmen, S, Schwabe, G, Soyupak, S, Akgul, E, Tastemir, D, Karahan, D, Mundlos, S, Lehmann, K
Publicado em 2005

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

Por Bortel, Emely L., Duda, Georg N., Mundlos, Stefan, Willie, Bettina M., Fratzl, Peter, Zaslansky, Paul
Publicado no Data Brief (2015)

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

Por Penzkofer, Tobias, Jäger, Marten, Figlerowicz, Marek, Badge, Richard, Mundlos, Stefan, Robinson, Peter N., Zemojtel, Tomasz
Publicado no Nucleic Acids Res (2017)

Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin

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

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

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