Publikationen von S. Mundlos
Alle Typen
Zeitschriftenartikel (266)
101.
Zeitschriftenartikel
94 (2), S. 278 - 287 (2014)
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation. The American Journal of Human Genetics 102.
Zeitschriftenartikel
9 (1), e86115 (2014)
Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1. PLoS One 103.
Zeitschriftenartikel
23 (12), S. 2091 - 2102 (2013)
Distinct global shifts in genomic binding profiles of limb malformation associated HOXD13 mutations. Genome Research 104.
Zeitschriftenartikel
21 (4), S. 367 - 372 (2013)
Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects. European journal og human genetics: EJHG ; the official journal of the European Society of Human Genetics 105.
Zeitschriftenartikel
50 (1), S. 47 - 53 (2013)
Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A. Journal of Medical Genetics 106.
Zeitschriftenartikel
2012, S. e - e (2012)
Identification of a Novel Missense Mutation in EDAR Causing Autosomal Recessive Hypohidrotic Ectodermal Dysplasia with Bilateral Amastia and Palmoplantar Hyperkeratosis. British Journal of Dermatology 107.
Zeitschriftenartikel
2012, S. e - e (2012)
Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4. European journal og human genetics: EJHG ; the official journal of the European Society of Human Genetics 108.
Zeitschriftenartikel
131 (11), S. 1761 - 1773 (2012)
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Human Genetics 109.
Zeitschriftenartikel
51 (4), S. 651 - 660 (2012)
Deterioration of fracture healing in the mouse model of NF1 long bone dysplasia. Bone 110.
Zeitschriftenartikel
91 (4), S. 629 - 635 (2012)
Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. American Journal of Human Genetics 111.
Zeitschriftenartikel
91 (1), S. 146 - 151 (2012)
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. American Journal of Human Genetics 112.
Zeitschriftenartikel
49 (7), S. 437 - 441 (2012)
Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia. Journal of Medical Genetics (London) 113.
Zeitschriftenartikel
20 (7), S. 754 - 761 (2012)
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes. European journal og human genetics: EJHG ; the official journal of the European Society of Human Genetics 114.
Zeitschriftenartikel
20 (6), S. 705 - 708 (2012)
Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly. European journal og human genetics: EJHG ; the official journal of the European Society of Human Genetics 115.
Zeitschriftenartikel
40 (6), S. 2426 - 2431 (2012)
The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process. Nucleic Acids Research (London) 116.
Zeitschriftenartikel
287 (9), S. 6318 - 6325 (2012)
Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. The Journal of Biological Chemistry 117.
Zeitschriftenartikel
49 (2), S. 119 - 125 (2012)
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. Journal of Medical Genetics (London) 118.
Zeitschriftenartikel
49 (2), S. 119 - 125 (2012)
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. J Med Genet 119.
Zeitschriftenartikel
21 (4), S. 623 - 633 (2012)
Odd-skipped related genes regulate differentiation of embryonic limb mesenchyme and bone marrow mesenchymal stromal cells. Stem Cells and Development 120.
Zeitschriftenartikel
88 (1), S. 70 - 75 (2011)
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. American Journal of Human Genetics