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American Journal of Medical Genetics. Part A|October 12, 2013
Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 → p22Anya Blassnig-Ezeh, Claude Bandelier, Anne Frühmesser, et al.Molecular Genetics and Metabolism Reports|November 30, 2016
Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher diseaseJulie Harvengt, Catherine Wanty, Boel De Paepe, et al.Pediatric Dermatology|September 15, 2018
Angiosarcoma arising from congenital primary lymphedemaPauline Janssens, Valérie Dekeuleneer, An Van Damme, et al.Journal of Medical Genetics|May 24, 2023
Ureteropelvic junction obstruction with primary lymphoedema associated with CELSR1 variantsMurat Alpaslan, Sandrine Mestré-Godin, Aurélie Lay, et al.Journal of Medical Genetics|July 14, 2019
RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformationNicole Revencu, Elodie Fastre, Marie Ravoet, et al.American Journal of Medical Genetics. Part A|February 7, 2024
Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variantsMartina De Bortoli, Marta Ivars, Nicole Revencu, et al.American Journal of Medical Genetics. Part A|January 21, 2016
Exploring the genetic basis of 3MC syndrome: Findings in 12 further familiesJill Urquhart, Rebecca Roberts, Deepthi de Silva, et al.Iscience|April 23, 2021
Aberrant sialylation in a patient with a HNF1α variant and liver adenomatosisLuisa Sturiale, Marie-Cécile Nassogne, Angelo Palmigiano, et al.Nature Cardiovascular Research|August 28, 2024
A case report of sirolimus use in early fetal management of lymphatic malformationEmmanuel Seront, Jean Marc Biard, An Van Damme, et al.Frontiers in Pediatrics|May 13, 2022
Arteriovenous Cerebral High Flow Shunts in Children: From Genotype to PhenotypeBerivan Tas, Daniele Starnoni, Stanislas Smajda, et al.Pageof 7