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American Journal of Medical Genetics. Part A|June 27, 2015
Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parentsN Houcinat, B Llanas, S Moutton, et al.Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|August 9, 2022
Rare metabolic disease mimicking COL4A1/COL4A2 fetal brain phenotypeT Coste, C Aloui, F Petit, et al.Clinical Genetics|February 21, 2018
Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid featuresS Moutton, A-L Bruel, M Assoum, 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.Clinical Genetics|September 26, 2015
Fetal phenotypes in otopalatodigital spectrum disordersS Naudion, S Moutton, I Coupry, et al.Clinical Genetics|March 16, 2017
Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutationsN Lehman, A C Mazery, A Visier, et al.Clinical Genetics|November 20, 2015
Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national surveyM Lefebvre, D Sanlaville, N Marle, et al.Pageof 1