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Journal of Medical Genetics|January 1, 1991
Two distinct mutations at a single BamHI site in phenylketonuriaD Melle, P Verelst, F Rey, et al.Orphanet Journal of Rare Diseases|May 13, 2017
Probable DRESS syndrome induced by IL-1 inhibitorsL Polivka, J S Diana, A Soria, et al.European Journal of Human Genetics : EJHG|August 31, 2001
TP63 gene mutation in ADULT syndromeJ Amiel, G Bougeard, C Francannet, et al.Dermatology (Basel, Switzerland)|February 11, 2010
Cutaneous Richter's syndrome, prognosis, and clinical, histological and immunohistological patterns: report of four cases and review of the literatureT Duong, F Grange, N Auffret, et al.Journal of Cutaneous Pathology|July 21, 2009
Early skin biopsy is helpful for the diagnosis and management of neonatal and infantile erythrodermasS Leclerc-Mercier, C Bodemer, E Bourdon-Lanoy, et al.The Journal of Investigative Dermatology|November 1, 1990
Reversal effects of topical retinoic acid on the skin of kidney transplant recipients under systemic corticotherapyO De Lacharriére, C Escoffier, A M Gracia, et al.European Journal of Pediatrics|July 1, 1992
X-linked hydrocephalus: clinical heterogeneity at a single gene locusF Serville, S Lyonnet, A Pelet, et al.Archives Des Maladies Du Coeur Et Des Vaisseaux|May 1, 1995
[Gene localisation in 12q12 in Holt-Oram atrio-digital syndrome]D Bonnet, J Terrett, E Pequignot-Viegas, et al.Journal of Medical Genetics|April 1, 1995
Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung diseaseT Attié, M Till, A Pelet, et al.Prenatal Diagnosis|March 1, 2000
Dicentric marker derived from chromosome 22 associated with mild clinical signs: a case reportL Lohmann, N Chelloug, B Rosales, et al.Pageof 38