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Journal of Medical Genetics|November 13, 2007
Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathyH Rosas-Vargas, N Bahi-Buisson, C Philippe, et al.Journal of Medical Genetics|January 16, 1998
Features of DiGeorge syndrome and CHARGE association in five patientsP de Lonlay-Debeney, V Cormier-Daire, J Amiel, et al.Journal of Medical Genetics|March 8, 2003
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiencyM Chol, S Lebon, P Bénit, et al.Journal of Medical Genetics|September 25, 2008
2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?S Jaillard, C Dubourg, M Gérard-Blanluet, et al.The Journal of Clinical Endocrinology and Metabolism|April 30, 2010
Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humansM Lebrun, N Richard, G Abeguilé, et al.Human Molecular Genetics|April 4, 2001
Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombinationL Y Brown, S Odent, V David, et al.Archives of Disease in Childhood|January 24, 2006
Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assaysL Pasquier, V Laugel, L Lazaro, et al.American Journal of Medical Genetics|November 15, 2000
Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]?S Briault, L Villard, U Rogner, et al.Journal of Medical Genetics|October 4, 2005
Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotypeC Bendavid, B R Haddad, A Griffin, et al.Molecular Genetics and Metabolism Reports|April 17, 2025
The recurrent p.Glu3Lys variant in EHHADH is responsible for Fanconi syndrome with early liver dysfunction and mitochondrial abnormalitiesP Rollier, A Cospain, M Barth, et al.Pageof 11