E-LIB Suche - Ergebnisse für: Ravix, C.

1

Severe neonatal seizures: From molecular diagnosis to preci..:

Milh, M. ; Cacciagli, P. ; Ravix, C....
Revue Neurologique. 172 (2016) 3 - p. 171-173 , 2016

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

2

Early-onset epileptic encephalopathies with "suppression-bu..:

Riccardi, F. ; Cacciagli, P. ; Lacoste, C....
European Journal of Paediatric Neurology. 21 (2017) - p. e167 , 2017

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

3

Genetic variants in components of the NALCN-UNC80-UNC79 ion..:

Bramswig, N.C ; Bertoli-Avella, A.M ; Albrecht, B...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s00439-018-1929-5. , 2018

Link: https://push-zb.helmholt..

4

P163 - Étude des déterminants génétiques des encéphalopathi..:

Milh, M. ; Mignon-Ravix, C. ; Cacciagli, P....
Archives de Pédiatrie. 17 (2010) 6 - p. 90 , 2010

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

5

Periventricular heterotopia, mental retardation, and epilep..:

Cardoso, C. ; Boys, A. ; Parrini, E....
Neurology. 72 (2009) 9 - p. 784-792 , 2009

Link: https://doi.org/10.1212/..

6

Genetic variants in components of the NALCN–UNC80–UNC79 ion..:

Bramswig, Nuria C. ; Bertoli-Avella, Aida M. ; Albrecht, Beate...
Human Genetics. 137 (2018) 9 - p. 753-768 , 2018

Link: https://doi.org/10.1007/..

7

Biallelic variants in PCDHGC4 cause a novel neurodevelopmen..:

Iqbal, M ; Maroofian, R ; Çavdarlı, B...
http://edoc.mdc-berlin.de/20487/1/20487oa.pdf. , 2021

Link: http://edoc.mdc-berlin.d..

8

Biallelic variants in PCDHGC4 cause a novel neurodevelopmen..:

Iqbal, M ; Maroofian, R ; Çavdarlı, B...
https://openaccess.sgul.ac.uk/id/eprint/113472/1/s41436-021-01260-4.pdf. , 2021

Link: https://openaccess.sgul...

9

Biallelic variants in PCDHGC4 cause a novel neurodevelopmen..:

Iqbal, M ; Maroofian, R ; Cavdarli, B...
https://discovery.ucl.ac.uk/id/eprint/10133042/1/s41436-021-01260-4.pdf. , 2021

Link: https://discovery.ucl.ac..

10

Telomeric 22q13 deletions resulting from rings, simple dele..:

Luciani, J ; de Mas, P ; Depetris, D...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735584. , 2003

Link: http://www.ncbi.nlm.nih...

11

Maternally inherited duplication of the possible imprinted ..:

Mignon-Ravix, C ; Mugneret, F ; Stavropoulou, C...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734862. , 2001

Link: http://www.ncbi.nlm.nih...

12

Biallelic variants in PCDHGC4 cause a novel neurodevelopmen..:

Iqbal, Maria ; Maroofian, Reza ; Çavdarlı, Büşranur...
Genetics in Medicine. 23 (2021) 11 - p. 2138-2149 , 2021

Link: https://doi.org/10.1038/..

13

Mosaicism of XX and XXY cells accounts for high copy number..:

Martin, Gabriel V. ; Kanaan, Sami B. ; Hemon, Marie F....
Scientific Reports. 9 (2019) 1 - p. , 2019

Link: https://doi.org/10.1038/..

14

Hyperoxia-induced Cellular Senescence in Fetal Airway Smoot..:

Parikh, Pavan ; Britt, Rodney D ; Manlove, Logan J...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6604224/. , 2019

Link: http://www.ncbi.nlm.nih...

15

Genetic variants in components of the NALCN–UNC80–UNC79 ion..:

Bramswig, Nuria C ; Bertoli-Avella, Aida M ; Albrecht, Beate...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6671679/. , 2018

Link: http://www.ncbi.nlm.nih...