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Denommé‐Pichon, Anne‐Sophie
356  results:
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1

Developmental epileptic encephalopathy in DLG4‐related syna..:

Kassabian, Benedetta ; Levy, Amanda M. ; Gardella, Elena...
Epilepsia.  65 (2024)  4 - p. 1029-1045 , 2024
Link: https://doi.org/10.1111/..
 
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2

Further description of two individuals with de novo p.(Glu1..:

Malbos, Marlène ; Wakeling, Emma ; Gautier, Thierry...
Clinical Genetics.  105 (2024)  5 - p. 555-560 , 2024
Link: https://doi.org/10.1111/..
 
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3

Understanding the new BRD4‐related syndrome: Clinical and g..:

Jouret, Guillaume ; Heide, Solveig ; Sorlin, Arthur...
Clinical Genetics.  102 (2022)  2 - p. 117-122 , 2022
Link: https://doi.org/10.1111/..
 
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4

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/..
 
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5

Phenotypic characterization of seven individuals with Marba..:

Marbach, Felix ; Lipska‐Ziętkiewicz, Beata S. ; Knurowska, Agata...
American Journal of Medical Genetics Part A.  188 (2022)  9 - p. 2627-2636 , 2022
Link: https://doi.org/10.1002/..
 
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6

Interest of exome sequencing trio‐like strategy based on po..:

Tran Mau‐Them, Frederic ; Duffourd, Yannis ; Vitobello, Antonio...
Molecular Genetics & Genomic Medicine.  9 (2021)  12 - p. , 2021
Link: https://doi.org/10.1002/..
 
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7

Congenital hypothyroidism and hearing loss without inner ea..:

Ziegler, Alban ; Denommé‐Pichon, Anne‐Sophie ; Boucher, Sophie...
Clinical Genetics.  99 (2020)  4 - p. 604-606 , 2020
Link: https://doi.org/10.1111/..
 
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8

AICA‐ribosiduria due toATICdeficiency: Delineation of the p..:

Ramond, Francis ; Rio, Marlène ; Héron, Bénédicte...
Journal of Inherited Metabolic Disease.  43 (2020)  6 - p. 1254-1264 , 2020
Link: https://doi.org/10.1002/..
 
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9

Next‐generation sequencing approaches and challenges in the..:

Bruel, Ange‐Line ; Vitobello, Antonio ; Tran Mau‐Them, Frédéric...
Clinical Genetics.  98 (2020)  5 - p. 433-444 , 2020
Link: https://doi.org/10.1111/..
 
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10

A novel mutation in the transmembrane 6 domain of GABBR2 le..:

Vuillaume, Marie‐Laure ; Jeanne, Médéric ; Xue, Li...
Annals of Neurology.  83 (2018)  2 - p. 437-439 , 2018
Link: https://doi.org/10.1002/..
 
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11

Structural variant calling and clinical interpretation in 6..:

Demidov, German ; Laurie, Steven ; Torella, Annalaura...
European Journal of Human Genetics.  32 (2024)  8 - p. 998-1004 , 2024
Link: https://doi.org/10.1038/..
 
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12

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/..
 
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13

Expansion of the neurodevelopmental phenotype of individual..:

Paulet, Alix ; Bennett-Ness, Cavan ; Ageorges, Faustine...
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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14

Correction: Expansion of the neurodevelopmental phenotype o..:

Paulet, Alix ; Bennett-Ness, Cavan ; Ageorges, Faustine...
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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15

Biallelic null variants in PNPLA8 cause microcephaly by red..:

Nakamura, Yuji ; Shimada, Issei S ; Maroofian, Reza...
Brain.  , 2024
Link: https://doi.org/10.1093/..
 
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