E-LIB Suche - Ergebnisse für: Christin, Anne Sanlaville

1

Hepatoblastoma in children aged less than six months at dia..:

Dall'Igna, Patrizia ; Brugieres, Laurence ; Christin, Anne Sanlaville...
Pediatric Blood & Cancer. 65 (2017) 1 - p. , 2017

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

2

Molecular and Phenotypic Characterization of theRORB-Relate..:

Gokce-Samar, Zeynep ; Vetro, Annalisa ; De Bellescize, Julitta...
Neurology. 102 (2024) 2 - p. , 2024

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

3

Expectations, needs and mid-term outcomes in people accessi..:

Viora-Dupont, Eléonore ; Robert, Françoise ; Chassagne, Aline...
European Journal of Human Genetics. , 2024

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

4

Whole F8 gene sequencing identified pathogenic structural v..:

Jourdy, Yohann ; Chatron, Nicolas ; Frétigny, Mathilde...
Journal of Thrombosis and Haemostasis. 22 (2024) 6 - p. 1616-1626 , 2024

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

5

Steroid Profiling in the Amniotic Fluid: Reference Range fo..:

Pourquet, Anne ; Teoli, Jordan ; Bouty, Aurore...
The Journal of Clinical Endocrinology & Metabolism. 108 (2022) 5 - p. e129-e138 , 2022

Link: https://doi.org/10.1210/..

6

Double inversion paracentrique parentale du même bras chrom..:

Kuentz, Paul ; Vitobello, Antonio ; Keren, Boris...
Morphologie. 106 (2022) 354 - p. S17 , 2022

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

7

CNTNAP1-encephalopathy: Six novel patients surviving the ne..:

Garel, Pauline ; Lesca, Gaetan ; Ville, Dorothée...
European Journal of Paediatric Neurology. 37 (2022) - p. 98-104 , 2022

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

8

The Economic, Medical and Psychosocial Consequences of Whol..:

Lejeune, Catherine ; Robert-Viard, Charley ; Meunier-Beillard, Nicolas...
Frontiers in Genetics. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

9

Genome Sequencing for Genetics Diagnosis of Patients With I..:

Binquet, Christine ; Lejeune, Catherine ; Faivre, Laurence...
Frontiers in Genetics. 12 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

10

Chromosomal instability in the prediction of pituitary neur..:

Lasolle, Hélène ; Elsensohn, Mad-Hélénie ; Wierinckx, Anne...
Acta Neuropathologica Communications. 8 (2020) 1 - p. , 2020

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

11

Bi-allelic GAD1 variants cause a neonatal onset syndromic d..:

Poulat, Anne-Lise ; de Bellescize, Julitta ; Sanlaville, Damien...
Brain. 143 (2020) 5 - p. 1447-1461 , 2020

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

12

Comprehensive characterization of claudin-low breast tumors..:

Pommier, Roxane M. ; Sanlaville, Amélien ; Tonon, Laurie...
Nature Communications. 11 (2020) 1 - p. , 2020

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

13

Exome sequencing in 57 patients with self-limited focal epi..:

Rudolf, Gabrielle ; de Bellescize, Julitta ; de Saint Martin, Anne...
European Journal of Paediatric Neurology. 27 (2020) - p. 104-110 , 2020

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

14

Early-onset autoimmunity associated with SOCS1 haploinsuffi..:

Hadjadj, Jérôme ; Castro, Carla Noemi ; Tusseau, Maud...
Nature Communications. 11 (2020) 1 - p. , 2020

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

15

Asparagine synthetase deficiency: A novel case with an unus..:

Faoucher, Marie ; Poulat, Anne-Lise ; Chatron, Nicolas...
Molecular Genetics and Metabolism Reports. 21 (2019) - p. 100509 , 2019

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