E-LIB Suche - Ergebnisse für: Aliu, Ermal

1

P410: Think beyond a unifying diagnosis: A case of dual dia..:

Fafoutis, Eleni ; Peck, Torri ; Aliu, Ermal...
Genetics in Medicine Open. 2 (2024) - p. 101304 , 2024

Link: https://doi.org/10.1016/..

2

P320: When to consider genetic testing in infants with hip ..:

Peck, Torri ; Fafoutis, Eleni ; Rzucidlo, Susan..
Genetics in Medicine Open. 2 (2024) - p. 101214 , 2024

Link: https://doi.org/10.1016/..

3

A Novel Homozygous Variant in the CHRNE Gene in 2 Siblings ..:

Chan, Cassie ; Emery, Lucy ; Aliu, Ermal...
Neurology. 100 (2023) 17_supplement_2 - p. , 2023

Link: https://doi.org/10.1212/..

4

A Novel Homozygous Variant in the CHRNE Gene in 2 Siblings ..:

Chan, Cassie ; Emery, Lucy ; Maltese, Caroline...
Child Neurology Open. 10 (2023) - p. , 2023

Link: https://doi.org/10.1177/..

5

A Case of Congenital Hypotonia and Developmental Delay in a..:

Makarova, Elizaveta ; Legro, Nicole R. ; Aliu, Ermal.
Case Reports in Genetics. 2023 (2023) - p. 1-5 , 2023

Link: https://doi.org/10.1155/..

6

Messenger RNA rescues medium-chain acyl-CoA dehydrogenase d..:

Zhao, Xue-Jun ; Mohsen, Al-Walid ; Mihalik, Stephanie...
Human Molecular Genetics. 32 (2023) 14 - p. 2347-2356 , 2023

Link: https://doi.org/10.1093/..

7

Synthetic mRNA rescues very long-chain acyl-CoA dehydrogena..:

Zhao, Xue-Jun ; Mohsen, AI-Walid ; Mihalik, Stephanie...
Molecular Genetics and Metabolism. 138 (2023) 1 - p. 106982 , 2023

Link: https://doi.org/10.1016/..

8

P309: Two siblings with novel compound heterozygous variant..:

Smith-Packard, Bethanny ; Aliu, Ermal ; Gordon, Patricia.
Genetics in Medicine Open. 1 (2023) 1 - p. 100337 , 2023

Link: https://doi.org/10.1016/..

9

ANALYSIS OF URINE HEPARAN SULFATE AND ITS NON-REDUCING ENDS..:

Kaczmarczyk, Aneta ; Lasio, Laura Duque ; Viskochil, David...
Molecular Genetics and Metabolism. 135 (2022) 4 - p. 281-282 , 2022

Link: https://doi.org/10.1016/..

10

A Case of Autosomal Recessive Intellectual Developmental Di..:

Hasan, Mahpara ; Mainali, Gayatra ; Aliu, Ermal..
Case Reports in Genetics. 2022 (2022) - p. 1-3 , 2022

Link: https://doi.org/10.1155/..

11

ERI1: A case report of an autosomal recessive syndrome asso..:

Hoxha, Valbona ; Aliu, Ermal
American Journal of Medical Genetics Part A. 191 (2022) 1 - p. 64-69 , 2022

Link: https://doi.org/10.1002/..

12

eP172: A new and milder case of primary autosomal recessive..:

Lequang, Timothy ; Aliu, Ermal
Genetics in Medicine. 24 (2022) 3 - p. S105 , 2022

Link: https://doi.org/10.1016/..

13

eP185: A novel, milder case of CHEDDA syndrome caused by a ..:

Makarova, Elizaveta ; Legro, Nicole ; Aliu, Ermal
Genetics in Medicine. 24 (2022) 3 - p. S114-S115 , 2022

Link: https://doi.org/10.1016/..

14

eP171: Family of three with truncating pathogenic variant i..:

Lequang, Timothy ; Aliu, Ermal
Genetics in Medicine. 24 (2022) 3 - p. S104 , 2022

Link: https://doi.org/10.1016/..

15

Atypical Leigh syndrome associated with compound heterozygo..:

Legro, Nicole ; Aliu, Ermal ; Kumar, Ashutosh
Molecular Genetics and Metabolism. 132 (2021) - p. S73-S74 , 2021

Link: https://doi.org/10.1016/..