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Thauvin-Robinet, Christel
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1

Patients with complex and very-early-onset ATL1-related spa..:

Hamamie-Chaar, Angélique ; Renaud, Mathilde ; Gençpinar, Pinar...
Journal of Neurology.  , 2024
Link: https://doi.org/10.1007/..
 
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2

Correspondence on "The ClinGen Brain Malformation Variant C..:

Horta, Edgar ; Dahlen, Eric ; Engel, Camille...
Genetics in Medicine.  , 2024
Link: https://doi.org/10.1016/..
 
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3

Compound Heterozygous WARS2 Variants Including a Hypomorphi..:

Schneider, Vincent ; Dupont, Gwendoline ; Madinier, Guillaume...
The Cerebellum.  , 2024
Link: https://doi.org/10.1007/..
 
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4

The detection of a strong episignature for Chung–Jansen syn..:

Vos, Niels ; Haghshenas, Sadegheh ; van der Laan, Liselot...
Human Genetics.  143 (2024)  6 - p. 761-773 , 2024
Link: https://doi.org/10.1007/..
 
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5

Whole F8 gene sequencing identified pathogenic structural v..:

Jourdy, Yohann ; Chatron, Nicolas ; Frétigny, Mathilde...
Journal of Thrombosis and Haemostasis.  22 (2024)  6 - p. 1616-1626 , 2024
Link: https://doi.org/10.1016/..
 
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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

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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8

Clinical phenotype of the PIK3R1-related vascular overgrowt..:

Kuentz, Paul ; Engel, Camille ; Laeng, Mathieu...
British Journal of Dermatology.  , 2024
Link: https://doi.org/10.1093/..
 
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9

Characterization of Vps13b-mutant mice reveals neuroanatomi..:

Montillot, Charlotte ; Skutunova, Emilia ; Ayushma...
Neurobiology of Disease.  185 (2023)  - p. 106259 , 2023
Link: https://doi.org/10.1016/..
 
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10

TRAPPC6B biallelic variants cause a neurodevelopmental diso..:

Almousa, Hashem ; Lewis, Sara A ; Bakhtiari, Somayeh...
Brain.  147 (2023)  1 - p. 311-324 , 2023
Link: https://doi.org/10.1093/..
 
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11

A rare double diagnosis identified via exome sequencing in ..:

Thomas, Quentin ; Vitobello, Antonio ; Fromont, Agnès..
Neurological Sciences.  44 (2023)  5 - p. 1795-1797 , 2023
Link: https://doi.org/10.1007/..
 
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12

Surgical management of Chiari malformation type 1 associate..:

Di Rocco, Federico ; Licci, Maria Lucia ; Garde, Aurore...
European Journal of Medical Genetics.  66 (2023)  2 - p. 104678 , 2023
Link: https://doi.org/10.1016/..
 
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13

Heterozygous pathogenic variants in POMC are not responsibl..:

Le Collen, Lauriane ; Delemer, Brigitte ; Poitou, Christine...
Genetics in Medicine.  25 (2023)  7 - p. 100857 , 2023
Link: https://doi.org/10.1016/..
 
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14

Pathogenic RAB34 variants impair primary cilium assembly an..:

Bruel, Ange-Line ; Ganga, Anil Kumar ; Nosková, Lenka...
Human Molecular Genetics.  32 (2023)  18 - p. 2822-2831 , 2023
Link: https://doi.org/10.1093/..
 
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15

Spectre clinique et mutationnel des malformations vasculair..:

Kuentz, Paul ; Engel, Camille ; Laeng, Mathieu...
Morphologie.  107 (2023)  359 - p. 100617 , 2023
Link: https://doi.org/10.1016/..
 
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