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Bruel, Ange‐Line
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1

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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2

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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3

RNA variant assessment using transactivation and transdiffe..:

Nicolas-Martinez, Emmylou C. ; Robinson, Olivia ; Pflueger, Christian...
The American Journal of Human Genetics.  111 (2024)  8 - p. 1673-1699 , 2024
Link: https://doi.org/10.1016/..
 
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4

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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5

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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6

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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7

Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further ..:

Jury, Jeanne ; Joubert, Madeleine ; Le Vaillant, Claudine...
Prenatal Diagnosis.  , 2024
Link: https://doi.org/10.1002/..
 
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8

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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9

Prenatal exome sequencing, a powerful tool for improving th..:

Thauvin‐Robinet, Christel ; Garde, Aurore ; Delanne, Julian...
Prenatal Diagnosis.  , 2024
Link: https://doi.org/10.1002/..
 
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10

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

Mazel, Benoit ; Delanne, Julian ; Garde, Aurore...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.  195 (2024)  6 - p. , 2024
Link: https://doi.org/10.1002/..
 
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11

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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12

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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13

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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14

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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15

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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