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Burglen, Lydie
353
results:
Search for persons
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Online (353)
Mediatypes
Articles (Online) (80)
OpenAccess-fulltext (273)
Languages
english (333)
french (7)
Sorted by: Relevance
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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/..
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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/..
1-15