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Therapeutische Umschau. Revue Therapeutique|October 31, 2013
[Genetic testing in the fetus and child]Deborah Bartholdi, Peter MinyAnnals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc|December 2, 2017
Late-onset severe long QT syndromeBabken Asatryan, André Schaller, Deborah Bartholdi, et al.Clinical Case Reports|February 16, 2018
Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case reportCornelia Hofstaetter, Carolina Courage, Deborah Bartholdi, et al.European Journal of Medical Genetics|March 18, 2008
Gomez-Lopez-Hernandez syndrome: an easily missed diagnosisAndrea Poretti, Deborah Bartholdi, Sonja Gobara, et al.Molecular Vision|April 26, 2006
Identification of the genetic defect in the original Wagner syndrome familyBarbara Kloeckener-Gruissem, Deborah Bartholdi, Marie-Therese Abdou, et al.European Journal of Medical Genetics|February 12, 2008
Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literatureDeborah Bartholdi, Sandra P Toelle, Bernhard Steiner, et al.European Journal of Human Genetics : EJHG|December 5, 2013
Further delineation of the SATB2 phenotypeDennis Döcker, Max Schubach, Moritz Menzel, et al.European Journal of Haematology|May 24, 2014
Transient myeloproliferative disorder in neonates without Down syndrome: case report and reviewAlexandra Schifferli, Johann Hitzler, Deborah Bartholdi, et al.Journal of Nephrology|April 22, 2026
Natural history of patients with familial focal segmental glomerulosclerosis associated with TRPC6 variantsHeidi Sarrasin, Daniel Sidler, Deborah Bartholdi, et al.European Journal of Human Genetics : EJHG|December 4, 2004
Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndromeEva Wey, Deborah Bartholdi, Mariluce Riegel, et al.Pageof 5