University research records
Université Montpellier 1
6 imported, source-linked research records. Open-access records.
Open-access records
Back to university profile →6 matching research records
Topic: Somatic mosaicism. Only records linked to Université Montpellier 1 are included. Historical ingestion is still running; these are imported records, not a count of all research worldwide.
Showing 1–6 of 6 matching records. Counts update as records arrive.
Fibroblast Growth Factor Receptor 3 Epidermal Naevus Syndrome with Urothelial Mosaicism for the Activating p.Ser249Cys FGFR3 Mutation
January 1, 2017 · 6 citations · Open access
Open original record →Simultaneous Hyper- and Hypomethylation at Imprinted Loci in a Subset of Patients withGNASEpimutations Underlies a Complex and Different Mechanism of Multilocus Methylation Defect in Pseudohypoparathyroidism Type 1b
May 6, 2013 · 58 citations · Open access
Open original record →Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling
April 10, 2013 · 4 citations · Open access
Open original record →Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms
December 1, 2012 · 45 citations · Open access
Open original record →New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?
November 25, 2009 · 15 citations · Open access
Open original record →Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase
January 20, 2009 · 386 citations · Open access
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