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Serey-Gaut, Margaux
8  Ergebnisse:
Personensuche X
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1

Bi-allelic TTI1 variants cause an autosomal-recessive neuro..:

Serey-Gaut, Margaux ; Cortes, Marisol ; Makrythanasis, Periklis...
The American Journal of Human Genetics.  110 (2023)  3 - p. 499-515 , 2023
Link: https://doi.org/10.1016/..
 
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2

HDR syndrome: Large cohort and systematic review:

Rive Le Gouard, Nicolas ; Lafond‐Rive, Valentin ; Jonard, Laurence...
Clinical Genetics.  , 2024
Link: https://doi.org/10.1111/..
 
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3

Genetic Evaluation of Prelingual Hearing Impairment: Recomm..:

Jonard, Laurence ; Brotto, Davide ; Moreno-Pelayo, Miguel A....
Audiology Research.  13 (2023)  3 - p. 341-346 , 2023
Link: https://doi.org/10.3390/..
 
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4

Genetic Evaluation of Prelingual Hearing Impairment: Recomm..:

Laurence Jonard ; Davide Brotto ; Miguel A. Moreno-Pelayo...
https://www.mdpi.com/2039-4349/13/3/29.  , 2023
Link: https://doi.org/10.3390/..
 
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5

Genetic Evaluation of Prelingual Hearing Impairment: Recomm..:

Laurence Jonard ; Davide Brotto ; Miguel A. Moreno-Pelayo...
https://dx.doi.org/10.3390/audiolres13030029.  , 2023
Link: https://doi.org/10.3390/..
 
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6

BCL11A intellectual developmental disorder: defining the cl..:

Angela Peron ; Felice D'Arco ; Kimberly A. Aldinger...
numberofpages:32.  , 2021
Link: http://hdl.handle.net/24..
 
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7

Genetic Evaluation of Prelingual Hearing Impairment: Recomm..:

Jonard, Laurence ; Brotto, Davide ; Moreno-Pelayo, Miguel A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10204519/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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8

Audiological phenotyping evaluation in KBG syndrome: Descri..:

Rhamati, L. ; Marcolla, A. ; Guerrot, A.M....
International Journal of Pediatric Otorhinolaryngology.  171 (2023)  - p. 111606 , 2023
Link: https://doi.org/10.1016/..
 
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