E-LIB Suche - Ergebnisse für: Damseh, Nadirah S.

1

Unbiased phenotype and genotype matching maximizes gene dis..:

Rips, Jonathan ; Halstuk, Orli ; Fuchs, Adina...
Genetics in Medicine. 26 (2024) 4 - p. 101068 , 2024

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

2

Hereditary orotic aciduria identified by newborn screening:

Staretz-Chacham, Orna ; Damseh, Nadirah S. ; Daas, Suha...
Frontiers in Genetics. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

3

Pontocerebellar hypoplasia associated with p.Arg183Trp homo..:

Damseh, Nadirah S. ; Obeidat, Ali N. ; Ahammed, Khondakar Sayef...
American Journal of Medical Genetics Part A. 191 (2023) 7 - p. 1923-1928 , 2023

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

4

Addition of galactose‐1‐phosphate measurement enhances newb..:

Daas, Suha ; Abu Salah, Nasser ; Anikster, Yair...
Journal of Inherited Metabolic Disease. 46 (2022) 2 - p. 232-242 , 2022

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

5

A novel mutation in TTC19 associated with isolated complex ..:

Melchionda, Laura ; Damseh, Nadirah S. ; Abu Libdeh, Bassam Y....
Frontiers in Genetics. 5 (2014) - p. , 2014

Link: https://doi.org/10.3389/..

6

Hereditary orotic aciduria identified by newborn screening:

Staretz-Chacham, Orna ; Damseh, Nadirah S ; Daas, Suha...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10043439/. , 2023

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

7

A novel mutation in TTC19 associated with isolated complex ..:

Melchionda, Laura ; Damseh, Nadirah S ; Abu Libdeh, Bassam Y...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC. , 2014

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

8

DataSheet1_Hereditary orotic aciduria identified by newborn..:

Orna Staretz-Chacham ; Nadirah S. Damseh ; Suha Daas...
doi:10.3389/fgene.2023.1135267.s001. , 2023

Link: https://doi.org/10.3389/..

9

Hereditary orotic aciduria identified by newborn screening:

Orna Staretz-Chacham ; Nadirah S. Damseh ; Suha Daas...
https://www.frontiersin.org/articles/10.3389/fgene.2023.1135267/full. , 2023

Link: https://doi.org/10.3389/..

10

A novel mutation in TTC19 associated with isolated complex ..:

Laura eMelchionda ; Nadirah S Damseh ; Bassam Y Abu Libdeh...
http://journal.frontiersin.org/Journal/10.3389/fgene.2014.00397/full. , 2014

Link: https://doi.org/10.3389/..

11

Expanded phenotypic spectrum of neurodevelopmental and neur..:

Layo-Carris, Dana E. ; Lubin, Emily E. ; Sangree, Annabel K....
European Journal of Human Genetics. , 2024

Link: https://doi.org/10.1038/..

12

Correction: Expanded phenotypic spectrum of neurodevelopmen..:

Layo-Carris, Dana E. ; Lubin, Emily E. ; Sangree, Annabel K....
European Journal of Human Genetics. , 2024

Link: https://doi.org/10.1038/..

13

Functional Characterization of Novel Lunatic Fringe Variant..:

Wengryn, Parker ; Silveira, Karina da Costa ; Oborn, Connor...
Human Mutation. 2023 (2023) - p. 1-12 , 2023

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

14

Heterozygous nonsense variants in the ferritin heavy-chain ..:

Shieh, Joseph T. ; Tintos-Hernandez, Jesus A. ; Murali, Chaya N....
Human Genetics and Genomics Advances. 4 (2023) 4 - p. 100236 , 2023

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

15

Broadening the phenotypic and molecular spectrum of FINCA s..:

Sczakiel, Henrike L. ; Zhao, Max ; Wollert-Wulf, Brigitte...
European Journal of Human Genetics. 31 (2023) 8 - p. 905-917 , 2023

Link: https://doi.org/10.1038/..