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Bertoli-Avella, Aida
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1

Facing the challenges to shorten the diagnostic odyssey: fi..:

Velasco, Harvy Mauricio ; Bertoli-Avella, Aida ; Jaramillo, Carolina Jaramillo...
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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2

Bi-allelic ACBD6 variants lead to a neurodevelopmental synd..:

Kaiyrzhanov, Rauan ; Rad, Aboulfazl ; Lin, Sheng-Jia...
Brain.  147 (2023)  4 - p. 1436-1456 , 2023
Link: https://doi.org/10.1093/..
 
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3

At a glance: the largest Niemann-Pick type C1 cohort with 6..:

Guatibonza Moreno, Pilar ; Pardo, Luba M. ; Pereira, Catarina...
European Journal of Human Genetics.  31 (2023)  10 - p. 1108-1116 , 2023
Link: https://doi.org/10.1038/..
 
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4

Inactivation of DRG1, encoding a translation factor GTPase,..:

Westrip, Christian A.E. ; Paul, Franziska ; Al-Murshedi, Fathiya...
Genetics in Medicine.  25 (2023)  9 - p. 100893 , 2023
Link: https://doi.org/10.1016/..
 
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5

AXIN1 bi-allelic variants disrupting the C-terminal DIX dom..:

Terhal, Paulien ; Venhuizen, Anton J. ; Lessel, Davor...
The American Journal of Human Genetics.  110 (2023)  9 - p. 1470-1481 , 2023
Link: https://doi.org/10.1016/..
 
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6

A founder DBR1 variant causes a lethal form of congenital i..:

Shamseldin, Hanan E. ; Sadagopan, Mukunth ; Martini, Javier...
Human Genetics.  142 (2023)  10 - p. 1491-1498 , 2023
Link: https://doi.org/10.1007/..
 
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7

Biallelic MAD2L1BP (p31comet) mutation is associated with m..:

Abdel-Salam, Ghada M. H. ; Hellmuth, Susanne ; Gradhand, Elise...
JCI Insight.  8 (2023)  22 - p. , 2023
Link: https://doi.org/10.1172/..
 
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8

Alternative splicing of BUD13 determines the severity of a ..:

Kornak, Uwe ; Saha, Namrata ; Keren, Boris...
Genetics in Medicine.  24 (2022)  9 - p. 1927-1940 , 2022
Link: https://doi.org/10.1016/..
 
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9

A novel variant in SMG9 causes intellectual disability, con..:

Rahikkala, Elisa ; Urpa, Lea ; Ghimire, Bishwa...
European Journal of Human Genetics.  30 (2022)  5 - p. 619-627 , 2022
Link: https://doi.org/10.1038/..
 
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10

OP033: An integrated multiomic panel as an excellent tool f..:

Almeida, Ligia ; Pereira, Catarina ; Aanicai, Ruxandra...
Genetics in Medicine.  24 (2022)  3 - p. S361 , 2022
Link: https://doi.org/10.1016/..
 
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11

Novel C19orf12 loss-of-function variant leading to neurodeg..:

Lefter, Antonia ; Mitrea, Iulia ; Mitrea, Dan...
Neurocase.  27 (2021)  6 - p. 481-483 , 2021
Link: https://doi.org/10.1080/..
 
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12

The Leukodystrophy Spectrum in Saudi Arabia: Epidemiologica..:

Alfadhel, Majid ; Almuqbil, Mohammed ; Al Mutairi, Fuad...
Frontiers in Pediatrics.  9 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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13

A disorder clinically resembling cystic fibrosis caused by ..:

Bertoli-Avella, Aida ; Hotakainen, Ronja ; Al Shehhi, Maryam...
Journal of Medical Genetics.  59 (2021)  10 - p. 993-1001 , 2021
Link: https://doi.org/10.1136/..
 
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14

Inherited deficiency of stress granule ZNFX1 in patients wi..:

Le Voyer, Tom ; Neehus, Anna-Lena ; Yang, Rui...
Proceedings of the National Academy of Sciences.  118 (2021)  15 - p. , 2021
Link: https://doi.org/10.1073/..
 
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15

Truncating mutations in YIF1B cause a progressive encephalo..:

AlMuhaizea, Mohammed ; AlMass, Rawan ; AlHargan, Aljouhra...
Acta Neuropathologica.  139 (2020)  4 - p. 791-794 , 2020
Link: https://doi.org/10.1007/..
 
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