E-LIB Suche - Ergebnisse für: Racine, Caroline A

1

Discovery of pathogenic variants in EFEMP2 and RAG1 and und..:

Favier, Maud ; Dard, Rodolph ; Gorincour, Guillaume...
Prenatal Diagnosis. , 2024

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

2

Patients with complex and very-early-onset ATL1-related spa..:

Hamamie-Chaar, Angélique ; Renaud, Mathilde ; Gençpinar, Pinar...
Journal of Neurology. , 2024

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

3

Elevated Mood Induced by Subthalamic Nucleus Deep Brain Sti..:

Coutinho, Patricia B. ; Johnson, Kara A. ; Seritan, Andreea L....
Tremor and Other Hyperkinetic Movements. 14 (2024) 1 - p. , 2024

Link: https://doi.org/10.5334/..

4

Laboratory Studies, Neuroimaging, and Neuropsychological Te..:

, In: Age-Adjusted Psychiatric Treatment for the Older Patient,

Seritan, Andreea L. ; Bruns, Elizabeth B. ; Bledsoe, Ian O.. - p. 51-76 , 2024

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

5

FOXG1 variants can be associated with milder phenotypes tha..:

Mazel, Benoit ; Delanne, Julian ; Garde, Aurore...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. , 2024

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

6

Early prenatal diagnosis of causative homozygous variants i..:

Favier, Maud ; Delanne, Julian ; Gorincour, Guillaume...
Prenatal Diagnosis. 44 (2024) 3 - p. 352-356 , 2024

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

7

Neuropsychological and social predictors of participation i..:

Hahn, Amelia ; Lazar, Ann A. ; Cernera, Stephanie...
Deep Brain Stimulation. , 2024

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

8

Combining globally search for a regular expression and prin..:

Tran Mau-Them, Frédéric ; Overs, Alexis ; Bruel, Ange-Line...
Frontiers in Genetics. 14 (2023) - p. , 2023

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

9

Prenatal diagnosis by trio exome sequencing in fetuses with..:

Tran Mau-Them, Frédéric ; Delanne, Julian ; Denommé-Pichon, Anne-Sophie...
Frontiers in Genetics. 14 (2023) - p. , 2023

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

10

Patient satisfaction, experience and preferences in the imp..:

Lançon, Allan ; Beaudouin, Amandine ; Lambert, Laetitia...
European Journal of Medical Genetics. 66 (2023) 10 - p. 104841 , 2023

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

11

UNC45A deficiency causes microvillus inclusion disease–like..:

Duclaux-Loras, Rémi ; Lebreton, Corinne ; Berthelet, Jérémy...
Journal of Clinical Investigation. 132 (2022) 10 - p. , 2022

Link: https://doi.org/10.1172/..

12

Variant-specific changes in RAC3 function disrupt corticoge..:

Scala, Marcello ; Nishikawa, Masashi ; Ito, Hidenori...
Brain. 145 (2022) 9 - p. 3308-3327 , 2022

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

13

Copy number variants calling from WES data through eXome hi..:

Tisserant, Emilie ; Vitobello, Antonio ; Callegarin, Davide...
Annals of Human Genetics. 86 (2022) 4 - p. 171-180 , 2022

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

14

A rigorous in silico genomic interrogation at 1p13.3 reveal..:

Ben-Mahmoud, Afif ; Jun, Kyung Ran ; Gupta, Vijay...
Frontiers in Molecular Neuroscience. 15 (2022) - p. , 2022

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

15

10 years of CEMARA database in the AnDDI-Rares network: a u..:

Messiaen, Claude ; Racine, Caroline ; Khatim, Ahlem...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

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