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Molecular Microbiology|September 29, 2016
Identification of aminopyrimidine-sulfonamides as potent modulators of Wag31-mediated cell elongation in mycobacteriaVinayak Singh, Neeraj Dhar, János Pató, et al.
American Journal of Medical Genetics. Part A|April 8, 2015
Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature reviewLaïla El Khattabi, Sylvie Jaillard, Joris Andrieux, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 29, 2019
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsyMaria J Nabais Sá, Hanka Venselaar, Laurens Wiel, et al.
Clinical Genetics|December 6, 2021
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosumRoseline Vibert, Cyril Mignot, Boris Keren, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 2, 2018
Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrumVictoria E R Parker, Kim M Keppler-Noreuil, Laurence Faivre, et al.
Journal of Medical Genetics|December 20, 2011
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial featuresAnna-Maja Molin, J Andrieux, D A Koolen, et al.
European Journal of Medical Genetics|January 18, 2015
15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patientsClémence Vanlerberghe, Florence Petit, Valérie Malan, et al.
Molecular Syndromology|November 4, 2010
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS SignL Desmyter, M Ghassibe, N Revencu, et al.
Prenatal Diagnosis|March 11, 2015
Severe X-linked chondrodysplasia punctata in nine new female fetusesMathilde Lefebvre, Fabienne Dufernez, Ange-Line Bruel, et al.
American Journal of Medical Genetics. Part A|September 9, 2016
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11Alice Goldenberg, Florence Riccardi, Aude Tessier, et al.
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