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American Journal of Medical Genetics|April 29, 1998
CHARGE syndrome: report of 47 cases and reviewA L Tellier, V Cormier-Daire, V Abadie, et al.
Nature Genetics|January 1, 1997
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene familyQ Y Li, R A Newbury-Ecob, J A Terrett, et al.
The British Journal of Dermatology|February 5, 2020
Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragilityC Has, J W Bauer, C Bodemer, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV|March 3, 2022
Proposal for a 6-step approach for differential diagnosis of neonatal erythrodermaE Cuperus, A Bygum, L Boeckmann, et al.
Molecular Genetics & Genomic Medicine|April 2, 2014
High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosisAhlem Amouri, Faten Talmoudi, Olfa Messaoud, et al.
International Journal of Pediatric Otorhinolaryngology|June 19, 2023
Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter reviewL Rhamati, A Marcolla, A M Guerrot, et al.
American Journal of Human Genetics|October 24, 2001
Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndromeS Kenwrick, H Woffendin, T Jakins, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV|July 18, 2024
Acute generalized exanthematous pustulosis: European expert consensus for diagnosis and managementF Tetart, S Walsh, B Milpied, et al.
Journal of Medical Genetics|October 30, 2007
Hirschsprung disease, associated syndromes and genetics: a reviewJ Amiel, E Sproat-Emison, M Garcia-Barcelo, et al.
Orphanet Journal of Rare Diseases|September 23, 2020
Management of ocular involvement in the acute phase of Stevens-Johnson syndrome and toxic epidermal necrolysis: french national audit of practices, literature review, and consensus agreementD Thorel, S Ingen-Housz-Oro, G Royer, et al.
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