Journal Article (420)
321.
Journal Article
237 (2), pp. 339 - 353 (2008)
Redundant function of the heparan sulfate 6-O-endosulfatases Sulf1 and Sulf2 during skeletal development. Developmental Dynamics 322.
Journal Article
17 (9), pp. 122 - 133 (2008)
Brachydactyly type A2 associated with a defect in proGDF5 processing. Human Molecular Genetics 323.
Journal Article
45 (6), pp. 370 - 375 (2008)
A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. Journal of Medical Gentics 324.
Journal Article
45 (6), pp. 370 - 375 (2008)
A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. Journal of Medical Gentics 325.
Journal Article
45 (6), pp. 370 - 375 (2008)
A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. Journal of Medical Gentics 326.
Journal Article
40 (1), pp. 32 - 34 (2008)
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nature Genetics 327.
Journal Article
31, p. e83 - e83 (2008)
HNF1B Abnormality (Mature-Onset Diabetes of the Young 5) in Children and Adolescents: High prevalence in autoantibody-negative type 1 diabetes with kidney defects. Diabetes Care 328.
Journal Article
4 (1), pp. 81 - 95 (2008)
The generalised k-Truncated Suffix Tree for time- and space-efficient searches in multiple DNA or protein sequences. International Journal of Bioinformatics Research and Applications: Ijbra 329.
Journal Article
143 (22), pp. 2668 - 2674 (2007)
Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome. American Journal of Medical Genetics / Part A 330.
Journal Article
48 (10), pp. 2063 - 2067 (2007)
Immunoglobulin receptor evolution in follicular lymphoma and a review of literature. Leukemia & Lymphoma 331.
Journal Article
81 (4), pp. 866 - 868 (2007)
Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1. American Journal of Human Genetics: AJHG 332.
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23 (22), pp. 3024 - 3031 (2007)
Improved detection of overrepresentation of Gene-Ontology annotations with parent child analysis. Bioinformatics 333.
Journal Article
81 (12), pp. 388 - 396 (2007)
A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. The American Journal of Human Genetics: AJHG 334.
Journal Article
51 (8), pp. 753 - 759 (2007)
A comparative analysis of Meox1 and Meox2 in the developing somites and limbs of the chick embryo. International Journal of Developmental Biology (Ijdb) 335.
Journal Article
46 (4), pp. 359 - 372 (2007)
Amplification and translocation of 3q26 with overexpression of EVI1 in Fanconi anemia-derived childhood acute myeloid leukemia with biallelic FANCD1/BRCA2 disruption. Genes, Chromosomes and Cancer 336.
Journal Article
40 (3), pp. 597 - 603 (2007)
Endochondral ossification in vitro is influenced by mechanical bending. Bone 337.
Journal Article
16 (8), pp. 232 - 240 (2007)
Multiple roles for neurofibromin in skeletal development and growth. Human Molecular Genetics 338.
Journal Article
143 (2), pp. 195 - 199 (2007)
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. American Journal of Medical Genetics/ Part A 339.
Journal Article
80 (2), pp. 232 - 240 (2007)
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius. American Journal of Human Genetics: AJHG / American Society of Human Genetics 340.
Journal Article
80 (2), pp. 232 - 240 (2007)
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius. American Journal of Human Genetics: AJHG / American Society of Human Genetics