Showing results (1-10 of 30) with videos related to
Sort By:
Pageof 3
American Journal of Medical Genetics. Part A|March 26, 2014
Chromosomal rearrangements in patients with clinical features of Silver-Russell syndromeSiv Fokstuen, Dieter KotzotRevue Medicale Suisse|May 3, 2023
[Rare causes of Hypophosphatemia: diagnostic approach]Andrea Trombetti, Siv Fokstuen, Paloma ParvexRevue Medicale Suisse|February 25, 2014
[Antenatal diagnosis: the revolution of new technologies]Siv Fokstuen, Frédérique Sloan-Béna, Olivier lrionChild Neurology Open|September 4, 2023
Odyssey of a Misclassified Genomic Variant: Insight from an Incidental Finding AssessmentOmar Zgheib, Andrea Trombetti, André Juillerat, et al.American Journal of Medical Genetics. Part A|February 5, 2003
FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patientsSiv Fokstuen, Stylianos E Antonarakis, Jean-Louis BlouinCongenital Anomalies|August 24, 2010
Are abdominal wall defects and external genitalia anomalies randomly expressed in some families?Ambroise Wonkam, Philipe Extermann, Jacques Birraux, et al.Clinical Genetics|January 31, 2025
Toe Polydactyly and Supernumerary Nipple: Broadening the Phenotypic Spectrum of STAR SyndromeOmar Zgheib, Léa Jacques, Louise Frizon, et al.Journal of Medical Ethics|January 1, 2017
Defining categories of actionability for secondary findings in next-generation sequencingCeline Moret, Alex Mauron, Siv Fokstuen, et al.Journal of Clinical Medicine|October 14, 2022
Brugada Syndrome Associated with Different Heterozygous <i>SCN5A</i> Variants in Two Unrelated FamiliesNadine Molitor, Argelia Medeiros-Domingo, Siv Fokstuen, et al.Journal of Medical Case Reports|December 13, 2019
Management of delivery of a fetus with autosomal recessive polycystic kidney disease: a case report of abdominal dystocia and review of the literatureSarah Belin, Cristina Delco, Paloma Parvex, et al.Pageof 3