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Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.
Scheidecker S, Etard C, Haren L, Stoetzel C, Hull S, Arno G, Plagnol V, Drunat S, Passemard S, Toutain A, Obringer C, Koob M, Geoffroy V, Marion V, Strähle U, Ostergaard P, Verloes A, Merdes A, Moore AT, Dollfus H. Scheidecker S, et al. Among authors: koob m. Am J Hum Genet. 2015 Apr 2;96(4):666-74. doi: 10.1016/j.ajhg.2015.02.011. Epub 2015 Mar 26. Am J Hum Genet. 2015. PMID: 25817018 Free PMC article.
Osteosclerotic bone dysplasia in siblings with a Fam20C mutation.
Fradin M, Stoetzel C, Muller J, Koob M, Christmann D, Debry C, Kohler M, Isnard M, Astruc D, Desprez P, Zorres C, Flori E, Dollfus H, Doray B. Fradin M, et al. Among authors: koob m. Clin Genet. 2011 Aug;80(2):177-83. doi: 10.1111/j.1399-0004.2010.01516.x. Epub 2010 Jul 23. Clin Genet. 2011. PMID: 20825432
A possible cranio-oro-facial phenotype in Cockayne syndrome.
Bloch-Zupan A, Rousseaux M, Laugel V, Schmittbuhl M, Mathis R, Desforges E, Koob M, Zaloszyc A, Dollfus H, Laugel V. Bloch-Zupan A, et al. Among authors: koob m. Orphanet J Rare Dis. 2013 Jan 14;8:9. doi: 10.1186/1750-1172-8-9. Orphanet J Rare Dis. 2013. PMID: 23311583 Free PMC article.
Neuroimaging in Cockayne syndrome.
Koob M, Laugel V, Durand M, Fothergill H, Dalloz C, Sauvanaud F, Dollfus H, Namer IJ, Dietemann JL. Koob M, et al. AJNR Am J Neuroradiol. 2010 Oct;31(9):1623-30. doi: 10.3174/ajnr.A2135. Epub 2010 Jun 3. AJNR Am J Neuroradiol. 2010. PMID: 20522568 Free PMC article.
Raine syndrome: expanding the radiological spectrum.
Koob M, Doray B, Fradin M, Astruc D, Dietemann JL. Koob M, et al. Pediatr Radiol. 2011 Mar;41(3):389-93. doi: 10.1007/s00247-010-1875-4. Epub 2010 Nov 13. Pediatr Radiol. 2011. PMID: 21076826
A pediatric case of Fisher-Bickerstaff spectrum.
Tsapis M, Laugel V, Koob M, de Saint Martin A, Fischbach M. Tsapis M, et al. Among authors: koob m. Pediatr Neurol. 2010 Feb;42(2):147-50. doi: 10.1016/j.pediatrneurol.2009.09.009. Pediatr Neurol. 2010. PMID: 20117755
124 results