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Journal of the European Academy of Dermatology and Venereology : JEADV|September 21, 2021
Practical management of epidermolysis bullosa: consensus clinical position statement from the European Reference Network for Rare Skin DiseasesC Has, M El Hachem, H Bučková, et al.Journal of the European Academy of Dermatology and Venereology : JEADV|June 15, 2013
Absence of circulating mast cell precursors in paediatric mastocytosis: could it reflect a different pathophysiology between adults and children with mastocytosis?S Georgin-Lavialle, L Le Saché-de Peufeilhoux, L Martin, et al.Human Genetics|April 1, 1992
Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in PortugalC Caillaud, L Vilarinho, A Vilarinho, et al.Clinical Dysmorphology|October 23, 2001
Absent lacrimal ducts, distichiasis, dysmorphic features, and brachydactyly: a case reportM Holder-Espinasse, M C de Blois, L Faivre, et al.Journal De La Societe De Biologie|April 28, 2001
[Molecular genetics of Hirschsprung disease: a model of multigenic neurocristopathy]J Amiel, R Salomon, T Attié-Bitach, et al.Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|June 28, 2003
[Childhood-onset systemic lupus erythematosus]B Bader-Meunier, P Quartier, G Deschênes, et al.Gastroenterologie Clinique Et Biologique|January 1, 1997
[Mutations of the endothelin-3 gene in isolated and syndromic forms of Hirschsprung disease]C Bidaud, R Salomon, P Edery, et al.Kidney International|February 13, 2001
PAX2 mutations in oligomeganephroniaR Salomon, A L Tellier, T Attie-Bitach, et al.Journal of Inherited Metabolic Disease|January 1, 1994
Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one alleleN Gregersen, V Winter, S Lyonnet, et al.Human Mutation|May 2, 2008
Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlationC Crétolle, A Pelet, D Sanlaville, et al.Pageof 38