E-LIB Suche - Ergebnisse für: Aliu, Ermal

1

The clinical and molecular spectrum of the KDM6B-related ne..:

Rots, Dmitrijs ; Jakub, Taryn E ; Keung, Crystal...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10257005/. , 2023

Link: http://www.ncbi.nlm.nih...

2

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

Chan, Cassie ; Emery, Lucy ; Maltese, Caroline...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10685742/. , 2023

Link: http://www.ncbi.nlm.nih...

3

Synthetic mRNA Rescues Very Long-Chain Acyl-CoA Dehydrogena..:

Zhao, Xue-Jun ; Mohsen, AI-Walid ; Mihalik, Stephanie...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9877169/. , 2023

Link: http://www.ncbi.nlm.nih...

4

Genetic Testing to Inform Epilepsy Treatment Management Fro..:

McKnight, Dianalee ; Morales, Ana ; Hatchell, Kathryn E...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9623482/. , 2022

Link: http://www.ncbi.nlm.nih...

5

Genetic Testing to Inform Epilepsy Treatment Management Fro..:

McKnight, Dianalee ; Morales, Ana ; Hatchell, Kathryn E...
https://jdc.jefferson.edu/pedsfp/127. , 2022

Link: https://jdc.jefferson.ed..

6

Acute Necrotizing Encephalopathy: 2 Case Reports on RANBP2 ..:

Hartley, Molly ; Sinha, Anjana ; Kumar, Ashutosh...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8326991/. , 2021

Link: http://www.ncbi.nlm.nih...

7

Prospective Pilot Study of a Single Daily Dosage of Trienti..:

Ala, Aftab ; Aliu, Ermal ; Schilsky, Michael L
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4427615/. , 2015

Link: http://www.ncbi.nlm.nih...

8

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

Bethanny Smith-Packard ; Ermal Aliu ; Patricia Gordon.
http://www.sciencedirect.com/science/article/pii/S2949774423003370. , 2023

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

9

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

Elizaveta Makarova ; Nicole R. Legro ; Ermal Aliu
http://dx.doi.org/10.1155/2023/1581876. , 2023

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

10

A Case of Autosomal Recessive Intellectual Developmental Di..:

Mahpara Hasan ; Gayatra Mainali ; Ermal Aliu.
http://dx.doi.org/10.1155/2022/4056780. , 2022

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

11

Ocular manifestations in a 2 year-old patient with a DYNC1H..:

Ryan Kenney (14282988) ; Rucha Borkhetaria (14282991) ; Ajay Soni (2104027)..
https://figshare.com/articles/journal_contribution/Ocular_manifestations_in_a_2_year-old_patient_with_a_DYNC1H1_mutation/21756603. , 2022

Link: https://doi.org/10.6084/..

12

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

Rea Mittal BS ; Ashutosh Kumar MD ; Roger Ladda MD..
https://doi.org/10.1177/2329048X211055330. , 2021

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

13

Acute Necrotizing Encephalopathy: 2 Case Reports on Mutatio:

Molly Hartley BS ; Anjana Sinha MS ; Ashutosh Kumar MD...
https://doi.org/10.1177/2329048X211030751. , 2021

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

14

Do cryptocurrencies offer diversification benefits for equi..:

Aliu, Florin ; Nuhiu, Artor ; Knápková, Adriana..
https://www.sciendo.com/article/10.2478/sbe-2021-0021. , 2021

Link: http://publikace.k.utb.c..

15

Do Cryptocurrencies Offer Diversification Benefits for Equi..:

Aliu Florin ; Nuhiu Artor ; Knapkova Adriana..
https://doi.org/10.2478/sbe-2021-0021. , 2021

Link: https://doi.org/10.2478/..