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Bruel, Ange‐Line
336  results:
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1

FOXG1 variants can be associated with milder phenotypes tha..:

Mazel, Benoit ; Delanne, Julian ; Garde, Aurore...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.  , 2024
Link: https://doi.org/10.1002/..
 
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2

Lessons from two series by physicians and caregivers' self‐..:

Ruault, Valentin ; Burger, Pauline ; Gradels‐Hauguel, Johanna...
Molecular Genetics & Genomic Medicine.  12 (2024)  1 - p. , 2024
Link: https://doi.org/10.1002/..
 
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3

Variants of NAV3, a neuronal morphogenesis protein, cause i..:

Ghaffar, Amama ; Akhter, Tehmeena ; Strømme, Petter...
Communications Biology.  7 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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4

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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5

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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6

Distinct neurodevelopmental and epileptic phenotypes associ..:

Mohammadi, Nazanin Azarinejad ; Ahring, Philip Kiær ; Yu Liao, Vivian Wan...
eBioMedicine.  106 (2024)  - p. 105236 , 2024
Link: https://doi.org/10.1016/..
 
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7

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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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

Confirmation and expansion of the phenotype of the TCEAL1-r..:

Albuainain, Fatimah ; Shi, Yuwei ; Lor-Zade, Sarah...
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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10

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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11

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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12

Prenatal diagnosis by trio exome sequencing in fetuses with..:

Tran Mau-Them, Frédéric ; Delanne, Julian ; Denommé-Pichon, Anne-Sophie...
Frontiers in Genetics.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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13

Stepwise use of genomics and transcriptomics technologies i..:

Colin, Estelle ; Duffourd, Yannis ; Chevarin, Martin...
Frontiers in Cell and Developmental Biology.  11 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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14

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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15

UQCRC2-related mitochondrial complex III deficiency, about ..:

Bansept, Claire ; Gaignard, Pauline ; Lebigot, Elise...
Mitochondrion.  68 (2023)  - p. 138-144 , 2023
Link: https://doi.org/10.1016/..
 
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