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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.Human Mutation|April 3, 2007
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung diseaseL de Pontual, A Pelet, M Clement-Ziza, et al.Prenatal Diagnosis|January 22, 2009
Binder phenotype: clinical and etiological heterogeneity of the so-called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literatureJ M Levaillant, D Moeglin, K Zouiten, et al.The British Journal of Dermatology|February 7, 2019
Inter-rater agreement and reliability of outcome measurement instruments and staging systems used in hidradenitis suppurativaL Thorlacius, A Garg, P T Riis, et al.Scientific Reports|December 3, 2017
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patientsD Baux, C Vaché, C Blanchet, et al.The British Journal of Dermatology|March 29, 2019
Pilonidal sinus disease: an intergluteal localization of hidradenitis suppurativa/acne inversa: a cross-sectional study among 2465 patientsF Benhadou, H H Van der Zee, J C Pascual, et al.Clinical Genetics|October 21, 2016
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?S El Chehadeh, R Touraine, F Prieur, et al.Nature|February 5, 2010
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2R G Walters, S Jacquemont, A Valsesia, et al.American Journal of Medical Genetics. Part A|September 19, 2009
Expanding CEP290 mutational spectrum in ciliopathiesLorena Travaglini, Francesco Brancati, Tania Attie-Bitach, et al.Pageof 28