E-LIB Suche - Ergebnisse für: Burglen, Lydie

1

CHD8-related disorders redefined: an expanding spectrum of ..:

Sorrentino, Ugo ; Boesch, Sylvia ; Doummar, Diane...
Journal of Neurology. 271 (2024) 5 - p. 2859-2865 , 2024

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

2

Prenatal diagnosis of pontocerebellar hypoplasia with postn..:

Jaillard, Alienor ; Valence, Stéphanie ; Vande Perre, Saskia...
Prenatal Diagnosis. 44 (2024) 1 - p. 35-48 , 2024

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

3

Author Correction: Variants in SART3 cause a spliceosomopat..:

Ayers, Katie L. ; Eggers, Stefanie ; Rollo, Ben N....
Nature Communications. 14 (2023) 1 - p. , 2023

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

4

Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spe..:

Angelini, Chloé ; Durand, Christelle Marie ; Fergelot, Patricia...
Movement Disorders. 38 (2023) 11 - p. 2103-2115 , 2023

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

5

Gain-of-function variants in the ion channel gene TRPM3 und..:

Van Hoeymissen, Evelien ; Burglen, Lydie ; Qebibo, Leila...
eLife. 12 (2023) - p. , 2023

Link: https://doi.org/10.7554/..

6

Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, e..:

Faqeih, Eissa A. ; Alghamdi, Malak Ali ; Almahroos, Marwa A....
Genetics in Medicine. 25 (2023) 2 - p. 100323 , 2023

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

7

Growth charts in DYRK1A syndrome:

Lanvin, Pierre‐Louis ; Goronflot, Thomas ; Isidor, Bertrand...
American Journal of Medical Genetics Part A. 194 (2023) 1 - p. 9-16 , 2023

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

8

Deficiency of the minor spliceosome component U4atac snRNA ..:

Khatri, Deepak ; Putoux, Audrey ; Cologne, Audric...
Proceedings of the National Academy of Sciences. 120 (2023) 9 - p. , 2023

Link: https://doi.org/10.1073/..

9

Characterization of novel CACNA1A splice variants by RNA‐se..:

Riant, Florence ; Burglen, Lydie ; Corpechot, Michaelle...
Clinical Genetics. 104 (2023) 3 - p. 365-370 , 2023

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

10

Variants in SART3 cause a spliceosomopathy characterised by..:

Ayers, Katie L. ; Eggers, Stefanie ; Rollo, Ben N....
Nature Communications. 14 (2023) 1 - p. , 2023

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

11

Bi-allelic variants in INTS11 are associated with a complex..:

Tepe, Burak ; Macke, Erica L. ; Niceta, Marcello...
The American Journal of Human Genetics. 110 (2023) 5 - p. 774-789 , 2023

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

12

1p36 deletion syndrome: Review and mapping with further cha..:

Jacquin, Clémence ; Landais, Emilie ; Poirsier, Céline...
American Journal of Medical Genetics Part A. 191 (2022) 2 - p. 445-458 , 2022

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

13

Pontocerebellar Hypoplasia Type 1D: A Case Report and Compr..:

Dabaj, Ivana ; Hassani, Adnan ; Burglen, Lydie...
Journal of Clinical Medicine. 11 (2022) 15 - p. 4335 , 2022

Link: https://doi.org/10.3390/..

14

Endocannabinoid dysfunction in neurological disease: neuro-..:

Bainbridge, Matthew N ; Mazumder, Aloran ; Ogasawara, Daisuke...
Brain. 145 (2022) 10 - p. 3383-3390 , 2022

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

15

Toward clinical and molecular dissection of frontonasal dys..:

Lehalle, Daphné ; Bruel, Ange‐Line ; Vitobello, Antonio...
American Journal of Medical Genetics Part A. 188 (2022) 7 - p. 2036-2047 , 2022

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