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Schaefer, Élise
415  results:
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1

Clinical spectrum of rare bone fragility disorders and resp..:

Charpié, Maëlle ; Brunelle, Perrine ; Baujat, Geneviève...
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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2

Recurrent familial case of early childhood sudden death: Co..:

Krebs-Drouot, Lila ; Schalk, Audrey ; Schaefer, Elise...
Forensic Science International: Genetics.  71 (2024)  - p. 103028 , 2024
Link: https://doi.org/10.1016/..
 
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3

Copy Number Variation and Epilepsy: State of the Art in the..:

Baer, Sarah ; Schalk, Audrey ; Miguet, Marguerite...
Pediatric Neurology.  159 (2024)  - p. 16-25 , 2024
Link: https://doi.org/10.1016/..
 
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4

Cat eye syndrome: Clinical, cytogenetics and familial findi..:

Jedraszak, Guillaume ; Jobic, Florence ; Receveur, Aline...
American Journal of Medical Genetics Part A.  194 (2023)  4 - p. , 2023
Link: https://doi.org/10.1002/..
 
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5

The ribose methylation enzyme FTSJ1 has a conserved role in..:

Brazane, Mira ; Dimitrova, Dilyana G ; Pigeon, Julien...
Life Science Alliance.  6 (2023)  4 - p. e202201877 , 2023
Link: https://doi.org/10.26508..
 
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6

The neurodevelopmental and facial phenotype in individuals ..:

Aerden, Mio ; Denommé-Pichon, Anne-Sophie ; Bonneau, Dominique...
European Journal of Human Genetics.  31 (2023)  4 - p. 461-468 , 2023
Link: https://doi.org/10.1038/..
 
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7

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/..
 
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8

Variants in FGF10 cause early onset of severe childhood int..:

Schütz, Katharina ; Schmidt, Axel ; Schwerk, Nicolaus...
Pediatric Pulmonology.  58 (2023)  11 - p. 3095-3105 , 2023
Link: https://doi.org/10.1002/..
 
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9

Structural mapping of GABRB3 variants reveals genotype–phen..:

Johannesen, Katrine M. ; Iqbal, Sumaiya ; Guazzi, Milena...
Genetics in Medicine.  24 (2022)  3 - p. 681-693 , 2022
Link: https://doi.org/10.1016/..
 
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10

Episignature Mapping of TRIP12 Provides Functional Insight ..:

van der Laan, Liselot ; Rooney, Kathleen ; Alders, Mariëlle...
International Journal of Molecular Sciences.  23 (2022)  22 - p. 13664 , 2022
Link: https://doi.org/10.3390/..
 
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11

Neurocognitive and neurobehavioral characterization of two ..:

Durand, Benjamin ; Schaefer, Elise ; Burger, Pauline...
Clinical Genetics.  102 (2022)  4 - p. 296-304 , 2022
Link: https://doi.org/10.1111/..
 
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12

Same performance of exome sequencing before and after fetal..:

Bourgon, Nicolas ; Garde, Aurore ; Bruel, Ange-Line...
European Journal of Human Genetics.  30 (2022)  8 - p. 967-975 , 2022
Link: https://doi.org/10.1038/..
 
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13

Recessive NUP54 Variants Underlie Early‐Onset Dystonia with..:

Harrer, Philip ; Schalk, Audrey ; Shimura, Masaru...
Annals of Neurology.  93 (2022)  2 - p. 330-335 , 2022
Link: https://doi.org/10.1002/..
 
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14

The EPIGENE network: A French initiative to harmonize and i..:

Arnaud, Lionel ; Abi Warde, Marie-Thérèse ; Barcia, Giulia...
European Journal of Medical Genetics.  65 (2022)  3 - p. 104445 , 2022
Link: https://doi.org/10.1016/..
 
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15

The different clinical facets of SYN1-related neurodevelopm..:

Parenti, Ilaria ; Leitão, Elsa ; Kuechler, Alma...
Frontiers in Cell and Developmental Biology.  10 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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