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Bertoli-Avella, Aida
161
results:
Search for persons
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Format
Online (161)
Mediatypes
Articles (Online) (60)
OpenAccess-fulltext (101)
Sorted by: Year
Sorted by: Relevance
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1
Autosomal recessive BLOC1S1 variants cause a hypomyelinatin..:
Gonzalez, Carlos Dominguez
;
Sanderson, Leslie E.
;
Depace, Raffaella
...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108328 , 2024
Link:
https://doi.org/10.1016/..
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2
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/..
?
3
Bi-allelic ACBD6 variants lead to a neurodevelopmental synd..:
Kaiyrzhanov, Rauan
;
Rad, Aboulfazl
;
Lin, Sheng-Jia
...
https://freidok.uni-freiburg.de/data/241321. , 2024
Link:
https://freidok.uni-frei..
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4
SNUPN deficiency causes a recessive muscular dystrophy due ..:
Nashabat, Marwan
;
Nabavizadeh, Nasrinsadat
;
Saraçoğlu, Hilal Pırıl
...
info:eu-repo/semantics/altIdentifier/pmid/38413582. , 2024
Link:
https://hdl.handle.net/1..
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5
Bi-allelic ACBD6 variants lead to a neurodevelopmental synd..:
Kaiyrzhanov, Rauan
;
Rad, Aboulfazl
;
Lin, Sheng-Jia
...
0006-8950. , 2024
Link:
https://dspace.library.u..
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6
De novo MCM6 variants in neurodevelopmental disorders: a re..:
Smits, Daphne J.
;
Schot, Rachel
;
Popescu, Cristiana A.
...
Human Genetics. 142 (2023) 7 - p. 949-964 , 2023
Link:
https://doi.org/10.1007/..
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7
At a glance: The largest Niemann-Pick type C1 cohort with 6..:
Bauer, Peter
;
Pardo, Luba M.
;
Moreno, Pilar Guatibonza
...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107025 , 2023
Link:
https://doi.org/10.1016/..
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8
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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9
Systematic gene-disease relationship (GDR) curation unveils..:
Zonic, Emir
;
Ferreira, Mariana
;
Pardo, Luba M.
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100833 , 2023
Link:
https://doi.org/10.1016/..
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10
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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11
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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12
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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13
Infantile Hyperchylomicronemia Due to A Novel GPIHBP1 Disea..:
Marzouq, Iman
;
Elbanna, Basant
;
Schröder, Sabine
...
Archives of Pediatric Gastroenterology, Hepatology, and Nutrition. 2 (2023) 2 - p. 25-31 , 2023
Link:
https://doi.org/10.58427..
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14
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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15
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/..
1-15