E-LIB Suche - Ergebnisse für: Fokstuen, Siv

1

Case report: desmoplakin cardiomyopathy presenting as an in..:

Massie, Emmanuelle ; Dominati, Arnaud ; Suchet, Sebastian...
European Heart Journal - Case Reports. 8 (2024) 4 - p. , 2024

Link: https://doi.org/10.1093/..

2

Noninvasive prenatal diagnosis of Mendelian disorders for c..:

Fokstuen, Siv ; Quteineh, Lina ; Schwitzgebel, Valérie M....
Clinical Genetics. 104 (2023) 5 - p. 505-515 , 2023

Link: https://doi.org/10.1111/..

3

Odyssey of a Misclassified Genomic Variant: Insight from an..:

Zgheib, Omar ; Trombetti, Andrea ; Juillerat, André.
Child Neurology Open. 10 (2023) - p. , 2023

Link: https://doi.org/10.1177/..

4

Brugada Syndrome Associated with Different Heterozygous SCN..:

Molitor, Nadine ; Medeiros-Domingo, Argelia ; Fokstuen, Siv...
Journal of Clinical Medicine. 11 (2022) 19 - p. 5625 , 2022

Link: https://doi.org/10.3390/..

5

Bi‐allelic loss of ERGIC1 causes relatively mild arthrogryp..:

Marconi, Caterina ; Lemmens, Laure ; Masclaux, Frédéric...
Clinical Genetics. 100 (2021) 3 - p. 329-333 , 2021

Link: https://doi.org/10.1111/..

6

Complex movement disorder in a patient with heterozygousYY1..:

Carminho‐Rodrigues, Maria Teresa ; Steel, Dora ; Sousa, Sergio B....
American Journal of Medical Genetics Part A. 182 (2020) 9 - p. 2129-2132 , 2020

Link: https://doi.org/10.1002/..

7

Management of delivery of a fetus with autosomal recessive ..:

Belin, Sarah ; Delco, Cristina ; Parvex, Paloma...
Journal of Medical Case Reports. 13 (2019) 1 - p. , 2019

Link: https://doi.org/10.1186/..

8

Entwicklung der genetischen und genomischen Medizin in der ..:

Filges, Isabel ; Bartholdi, Deborah ; Cichon, Sven...
Schweizerische Ärztezeitung. , 2018

Link: https://doi.org/10.4414/..

9

Recommendations for genetic testing and counselling after s..:

Medeiros-Domingo, Argelia ; Bolliger, Stephan A. ; Gräni, Christoph...
Swiss Medical Weekly. 148 (2018) 2728 - p. w14638 , 2018

Link: https://doi.org/10.57187..

10

Defining categories of actionability for secondary findings..:

Moret, Celine ; Mauron, Alex ; Fokstuen, Siv..
Journal of Medical Ethics. 43 (2017) 5 - p. 346-349 , 2017

Link: https://www.jstor.org/st..

11

Diagnostic Exome Sequencing to Elucidate the Genetic Basis ..:

Makrythanasis, Periklis ; Nelis, Mari ; Santoni, Federico A....
Human Mutation. 35 (2014) 10 - p. 1203-1210 , 2014

Link: https://doi.org/10.1002/..

12

Chromosomal rearrangements in patients with clinical featur..:

Fokstuen, Siv ; Kotzot, Dieter
American Journal of Medical Genetics Part A. 164 (2014) 6 - p. 1595-1605 , 2014

Link: https://doi.org/10.1002/..

13

Next generation diagnostics on cardiomyopathy:

Blouin, Jean-Louis ; Bevillard, Jeremy ; Makrythanasis, Periklis...
Molecular Cytogenetics. 7 (2014) Suppl 1 - p. I4 , 2014

Link: https://doi.org/10.1186/..

14

Elevated middle cerebral artery peak systolic velocity as a..:

Gwanmesia, Lorraine M. ; Samii, Kaveh ; Boulvain, Michel...
European Journal of Obstetrics & Gynecology and Reproductive Biology. 167 (2013) 2 - p. 235-236 , 2013

Link: https://doi.org/10.1016/..

15

Contamination of Amniotic Fluid With Maternal Balanced t(11..:

Fokstuen, Siv ; Binkert, Franz ; Munoz, Analia...
American Journal of Medical Genetics Part A. 161 (2013) 5 - p. 1101-1104 , 2013

Link: https://doi.org/10.1002/..