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Zeitschriftenartikel (241)
41.
Zeitschriftenartikel
24 (8), S. 1132 - 1136 (2016)
Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia. European journal of human genetics 42.
Zeitschriftenartikel
37 (8), S. 737 - 744 (2016)
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. Human Mutations 43.
Zeitschriftenartikel
170A (5), S. 1202 - 1207 (2016)
Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement. American Journal of Medical Genetics Part A 44.
Zeitschriftenartikel
32 (4), S. 225 - 237 (2016)
Breaking TADs: How Alterations of Chromatin Domains Result in Disease. Trends in Genetics 45.
Zeitschriftenartikel
170A (4), S. 1080 - 1085 (2016)
An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing. American Journal of Medical Genetics Part A 46.
Zeitschriftenartikel
170 (3), S. 615 - 621 (2016)
A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation. American Journal of Medical Genetics Part A 47.
Zeitschriftenartikel
67 (1), S. 78 - 83 (2016)
Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach. Polish Journal of Pathology 48.
Zeitschriftenartikel
26 (2), S. 183 - 191 (2016)
Exome Sequencing and CRISPR/Cas Genome Editing Identify Mutations of ZAK as a Cause of Limb Defects in Humans and Mice. Genome Research 49.
Zeitschriftenartikel
135 (10), S. 2368 - 2376 (2015)
GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting. The Journal of Investigative Dermatology: an International Journal for Research in Cutaneous Biology 50.
Zeitschriftenartikel
97 (3), S. 483 - 492 (2015)
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. The American Journal of Human Genetics 51.
Zeitschriftenartikel
58 (8), S. 376 - 380 (2015)
FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies. European Journal of Medical Genetics 52.
Zeitschriftenartikel
36 (8), S. 815 - 822 (2015)
Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions. Human Mutations 53.
Zeitschriftenartikel
60 (8), S. 419 - 425 (2015)
Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations? JOURNAL OF HUMAN GENETICS 54.
Zeitschriftenartikel
52 (7), S. 476 - 483 (2015)
Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type. Journal of Medical Genetics 55.
Zeitschriftenartikel
23 (6), S. 1870 - 1873 (2015)
Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient. European journal of human genetics 56.
Zeitschriftenartikel
47 (6), S. 647 - 653 (2015)
PDE3A mutations cause autosomal dominant hypertension with brachydactyly. Nature Genetics 57.
Zeitschriftenartikel
36 (6), S. 593 - 598 (2015)
DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies. Human Mutations 58.
Zeitschriftenartikel
161 (5), S. 1012 - 1025 (2015)
Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions. Cell 59.
Zeitschriftenartikel
73, S. 111 - 119 (2015)
Improved bone defect healing by a superagonistic GDF5 variant derived from a patient with multiple synostoses syndrome. Bone 60.
Zeitschriftenartikel
10 (3), e0119030 (2015)
Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient. PLoS One