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Attié-Bitach, Tania
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1

Expanding the phenotypic spectrum of LIG4 pathogenic variat..:

Nicolle, Romain ; Boutaud, Lucile ; Loeuillet, Laurence...
European Journal of Human Genetics.  32 (2024)  5 - p. 545-549 , 2024
Link: https://doi.org/10.1038/..
 
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2

Objectivizing issues in the diagnosis of complex rare disea..:

Faviez, Carole ; Chen, Xiaoyi ; Garcelon, Nicolas...
BMC Medical Informatics and Decision Making.  24 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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3

A cell fate decision map reveals abundant direct neurogenes..:

Coquand, Laure ; Brunet Avalos, Clarisse ; Macé, Anne-Sophie...
Nature Cell Biology.  26 (2024)  5 - p. 698-709 , 2024
Link: https://doi.org/10.1038/..
 
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4

Next generation phenotyping for diagnosis and phenotype–gen..:

Hennocq, Quentin ; Willems, Marjolaine ; Amiel, Jeanne...
Scientific Reports.  14 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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5

The phenotype of MEGF8-related Carpenter syndrome (CRPT2) i..:

Watts, Laura M. ; Bertoli, Marta ; Attie-Bitach, Tania...
European Journal of Human Genetics.  32 (2024)  7 - p. 864-870 , 2024
Link: https://doi.org/10.1038/..
 
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6

Differential alternative splicing analysis links variation ..:

Hannes, Laurens ; Atzori, Marta ; Goldenberg, Alice...
Genetics in Medicine.  26 (2024)  4 - p. 101059 , 2024
Link: https://doi.org/10.1016/..
 
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7

Clinico-biological refinement of BCL11B-related disorder an..:

Sabbagh, Quentin ; Haghshenas, Sadegheh ; Piard, Juliette...
Genetics in Medicine.  26 (2024)  1 - p. 101007 , 2024
Link: https://doi.org/10.1016/..
 
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8

Extending the clinical spectrum of X-linked Tonne-Kalscheue..:

Cuinat, Silvestre ; Quélin, Chloé ; Effray, Claire...
Journal of Medical Genetics.  , 2024
Link: https://doi.org/10.1136/..
 
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9

Clinical and functional heterogeneity associated with the d..:

Caron, Véronique ; Chassaing, Nicolas ; Ragge, Nicola...
Genetics in Medicine.  25 (2023)  8 - p. 100856 , 2023
Link: https://doi.org/10.1016/..
 
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10

De novo missense variants in phosphatidylinositol kinase PI..:

Morleo, Manuela ; Venditti, Rossella ; Theodorou, Evangelos...
The American Journal of Human Genetics.  110 (2023)  8 - p. 1377-1393 , 2023
Link: https://doi.org/10.1016/..
 
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11

Discovering a new part of the phenotypic spectrum of Coffin..:

van der Sluijs, Pleuntje J. ; Joosten, Marieke ; Alby, Caroline...
Genetics in Medicine.  25 (2023)  2 - p. 100004 , 2023
Link: https://doi.org/10.1016/..
 
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12

First reports of fetal SMARCC1 related hydrocephalus:

Rive Le Gouard, Nicolas ; Nicolle, Romain ; Lefebvre, Mathilde...
European Journal of Medical Genetics.  66 (2023)  8 - p. 104797 , 2023
Link: https://doi.org/10.1016/..
 
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13

AI-based diagnosis in mandibulofacial dysostosis with micro..:

Hennocq, Quentin ; Bongibault, Thomas ; Marlin, Sandrine...
Frontiers in Pediatrics.  11 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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14

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/..
 
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15

The genetic landscape and clinical spectrum of nephronophth..:

Petzold, Friederike ; Billot, Katy ; Chen, Xiaoyi...
Kidney International.  104 (2023)  2 - p. 378-387 , 2023
Link: https://doi.org/10.1016/..
 
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