Filtrer vos résultats
- 3
- 1
- 4
- 4
- 1
- 1
- 1
- 1
- 4
- 4
- 3
- 2
- 2
- 2
- 2
- 2
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 4
- 3
- 3
- 3
- 2
- 2
- 2
- 2
- 2
- 2
- 2
- 2
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
|
|
triés par
|
Severe X-linked chondrodysplasia punctata in nine new female fetusesPrenatal Diagnosis, 2015, 35 (7), pp.675-684. ⟨10.1002/pd.4591⟩
Article dans une revue
istex
hal-01376847v1
|
|||
|
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathyHuman Molecular Genetics, 2004, 13 (20), pp.2493 - 2503. ⟨10.1093/hmg/ddh265⟩
Article dans une revue
hal-01668977v1
|
||
Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patientsJournal of Medical Genetics, 2018, 55 (6), pp.422-429. ⟨10.1136/jmedgenet-2017-104939⟩
Article dans une revue
hal-02012240v1
|
|||
Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnosesEuropean Journal of Medical Genetics, 2017, 60 (11), pp.595 - 604. ⟨10.1016/j.ejmg.2017.08.011⟩
Article dans une revue
hal-01626052v1
|