E-LIB Suche - Ergebnisse für: Bertoli-Avella, Aida

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/..

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..

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..

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..

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/..

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/..

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/..

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/..

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/..

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/..

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/..

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..

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/..

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/..