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Aliu, Ermal
35  results:
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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/..
 
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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/..
 
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3

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/..
 
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4

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/..
 
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5

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/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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9

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/..
 
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10

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/..
 
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11

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/..
 
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12

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/..
 
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13

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/..
 
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14

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/..
 
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15

Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in..:

Mittal, Rea ; Kumar, Ashutosh ; Ladda, Roger..
Child Neurology Open.  8 (2021)  - p. 2329048X2110553 , 2021
Link: https://doi.org/10.1177/..
 
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