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The British Journal of Dermatology|November 13, 2018
Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutationD Bessis, J Miquel, E Bourrat, et al.Blood|May 26, 1999
Prognostic factors in primary cutaneous lymphomas other than mycosis fungoides and the Sézary syndrome. The French Study Group on Cutaneous LymphomasF Grange, G Hedelin, P Joly, et al.Journal of Medical Genetics|July 15, 2006
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disordersM-L Jacquemont, D Sanlaville, R Redon, et al.Journal of Medical Genetics|April 16, 2002
Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardationM Rio, F Molinari, S Heuertz, et al.American Journal of Human Genetics|October 12, 2001
Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structuresJ Amiel, Y Espinosa-Parrilla, J Steffann, et al.Journal of the European Academy of Dermatology and Venereology : JEADV|December 14, 2024
Oral health care pathways for patients with epidermolysis bullosa: A position statement from the European reference network for rare skin diseasesS Krämer, A L Hillebrecht, K Bekes, et al.Journal of Medical Genetics|May 1, 2007
Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletionsJ Andrieux, C Villenet, S Quief, et al.Clinical Genetics|July 16, 2004
Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardationG Borck, M Rio, D Sanlaville, et al.American Journal of Human Genetics|April 14, 2000
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brainR L Touraine, T Attié-Bitach, E Manceau, et al.The British Journal of Dermatology|August 19, 2015
Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromesA-C Bursztejn, T A Briggs, Y del Toro Duany, et al.Pageof 38