F. Fellmann

Discipline

Sociologie (1) Sciences de l'information et de la communication (1) Histoire (1) Gestion et management (1) Economies et finances (1)

Type de document

Articles (22) Recensions (6) Autres (2)

Co-auteur

Date

Source

Mot-clé

Human beings (13) Cases (12) Cases (12) gène (9) maladie (7) adulte (7) Patients (7) Patients (7) adulte (7) maladie (7) puits (6) analyse (6) Families (6) Autopsy (6) Analysis (6) Autopsy (6) famille (5) âge (5) enfant (5) Diagnosis (5) Sudden death (5) Diagnosis (5) Cardiac arrest (5) Age (5) Age (5) Family (5) mutation (4) gestion (4) information (4) taux (4)

Documents écrit par F. Fellmann (24) | parle de F. Fellmann (0)

Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity.
E. Haro et al. (20 sept. 2021)
ACTN2 variant associated with a cardiac phenotype suggestive of left-dominant arrhythmogenic cardiomyopathy.
J.M. Good et al.
Herpes simplex encephalitis in adult patients with MASP-2 deficiency.
S. Bibert et al.
European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death.
F. Fellmann et al.
Patients avec variation du développement sexuel : un exemple de prise en charge interdisciplinaire [Patients with variations of sex development : an example of interdisciplinary care]
F. Phan-Hug et al. (9 nov. 2016)
Pheochromocytoma Masked by Mutation in the TH Gene.
K. Abid et al.
A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome.
B. Zemrani et al. (2016)
Sudden cardiac death in forensic medicine - Swiss recommendations for a multidisciplinary approach.
M. Wilhelm et al. (2015)
Sudden cardiac death among general population and sport related population in forensic experience.
N. Chappex et al. (2015)
Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness.
F. Severin et al. (2015)
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations
W. Dondorp et al. (2015)
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
W. Dondorp et al. (2015)
Sudden cardiac death in the young (5-39 years) in the canton of Vaud, Switzerland.
F. Hofer et al. (7 oct. 2014)
Analyses génétiques : comment réagir en cas de résultats inattendus ?
F. Fellmann et al.
Analyses génétiques : questions autour de résultats inattendus
F. Fellmann et al.
Two new families with hereditary minimal change disease.
H. Chehade et al. (22 mars 2013)
Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain.
P. Sen et al. (2013)
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
P. Stankiewicz et al. (2012)
A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.
C.H. Teirlinck et al. (2012)
Successful heart and liver transplantation in a Swiss patient with Glu89Lys transthyretin amyloidosis.
J. Niederhauser et al. (2011)
16q24.1 microdeletion in a premature newborn: Usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn.
F. Zufferey et al. (2011)
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
S. Jacquemont et al. (2011)
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.
R.G. Walters et al. (4 févr. 2010)
Molecular autopsy in sudden cardiac death and its implication for families: discussion of the practical, legal and ethical aspects of the multidisciplinary collaboration.
K. Michaud et al. (2009)