E-LIB Suche - Ergebnisse für: Damseh, Nadirah

1

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/..

2

A loss-of-function mutation in human Oxidation Resistance 1..:

Lin, Xiaolin ; Wang, Wei ; Yang, Mingyi...
Genome Biology. 24 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

3

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/..

4

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/..

5

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/..

6

Bridging clinical care and research in Ontario, Canada: Max..:

Hartley, Taila ; Soubry, Élisabeth ; Acker, Meryl...
Clinical Genetics. 103 (2022) 3 - p. 288-300 , 2022

Link: https://doi.org/10.1111/..

7

Diagnostic outcomes for molecular genetic testing in childr..:

Damseh, Nadirah ; Dupuis, Lucie ; O'Connor, Constance...
American Journal of Medical Genetics Part A. 188 (2022) 5 - p. 1376-1383 , 2022

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

8

Thiemann disease and familial digital arthropathy – brachyd..:

Damseh, Nadirah ; Stimec, Jennifer ; O'Brien, Alan...
Orphanet Journal of Rare Diseases. 14 (2019) 1 - p. , 2019

Link: https://doi.org/10.1186/..

9

Primary ciliary dyskinesia: mechanisms and management:

Damseh, Nadirah ; Quercia, Nada ; Rumman, Nisreen..
The Application of Clinical Genetics. 10 (2017) - p. 67-74 , 2017

Link: https://doi.org/10.2147/..

10

Severe phenotype of X‐linked dominant chondrodysplasia punc..:

Damseh, Nadirah ; Chong, Karen ; Marshall, Christian...
Clinical Case Reports. 5 (2017) 9 - p. 1435-1437 , 2017

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

11

A defect in the retromer accessory protein, SNX27, manifest..:

Damseh, Nadirah ; Danson, Chris M. ; Al-Ashhab, Motee...
neurogenetics. 16 (2015) 3 - p. 215-221 , 2015

Link: https://doi.org/10.1007/..

12

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/..

13

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/..

14

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/..

15

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/..