Journal Article (420)
281.
Journal Article
18 (21), pp. 4013 - 4021 (2009)
A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. Human Molecular Genetics 282.
Journal Article
149A (10), pp. 2327 - 2338 (2009)
Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options. American Journal of Medical Genetics Part A 283.
Journal Article
85 (4), pp. 457 - 464 (2009)
Clinical Diagnostics with Semantic Similarity Searches in Ontologies. The American Journal of Human Genetics 284.
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1792, pp. 903 - 914 (2009)
Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa. Biochimica et Biophysica Acta - Molecular Basis of Disease 285.
Journal Article
40 (9), pp. 1065 - 1067 (2009)
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nature Genetics 286.
Journal Article
41, pp. 1016 - 1021 (2009)
Mutations in PYCR1 cause cutis laxa with progeroid features. Nature Genetics 287.
Journal Article
94 (5), pp. 308 - 316 (2009)
Short ultraconserved promoter regions delineate a class of preferentially expressed alternatively spliced transcripts. Genomics 288.
Journal Article
41 (8), pp. 862 - 863 (2009)
Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia. Nature Genetics 289.
Journal Article
24 (7), pp. 1247 - 1262 (2009)
Promiscuous and depolarization-induced immediate-early response genes are induced by mechanical strain of osteoblasts. Journal of Bone and Mineral Research 290.
Journal Article
94 (7), pp. 2658 - 2664 (2009)
Expanded clinical spectrum in hepatocyte nuclear factor 1B-maturity-onset diabetes of the young. Journal of Clinical Endocrinology & Metabolism 291.
Journal Article
18 (12), pp. 2149 - 2165 (2009)
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Human Molecular Genetics 292.
Journal Article
15, pp. 674 - 681 (2009)
Impaired gastric acidification negatively affects calcium homeostasis and bone mass. Nature Medicine 293.
Journal Article
5, p. e1000487 - e1000487 (2009)
CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait. PLoS Genetics 294.
Journal Article
45 (5-6), pp. 252 - 263 (2009)
PBX1 is dispensable for neural commitment of RA-treated murine ES cells. In Vitro Cellular & Developmental Biology - Animal 295.
Journal Article
50 (5), pp. 816 - 828 (2009)
The Spt-Ada-Gcn5-acetyltransferase complex interaction motif of E2a is essential for a subset of transcriptional and oncogenic properties of E2a-Pbx1. Leukemia & Lymphoma 296.
Journal Article
458 (7242), pp. 1196 - 1200 (2009)
A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range. Nature 297.
Journal Article
9 (4), pp. 215 - 223 (2009)
Comprehensive expression analysis of all Wnt genes and their major secreted antagonists during mouse limb development and cartilage differentiation. Gene Expression Patterns 298.
Journal Article
119 (1), pp. 146 - 156 (2009)
Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis. Journal of Clinical Investigation 299.
Journal Article
75 (6), pp. 725 - 727 (2008)
Cleidocranial dysplasia in a mother and her two children. Joint Bone Spine 300.
Journal Article
3, p. 14 - 14 (2008)
Syntenator: Multiple gene order alignments with a gene-specific scoring function. Algorythms for Molecular Biology