E-LIB Suche - Ergebnisse für: Rahman, Fatima

1

Expanding the phenotype of PPP1R21‐related neurodevelopment..:

Almannai, Mohammed ; Marafi, Dana ; Zaki, Maha S....
Clinical Genetics. 105 (2024) 6 - p. 620-629 , 2024

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

2

The clinical and genetic spectrum of inherited glycosylphos..:

Sidpra, Jai ; Sudhakar, Sniya ; Biswas, Asthik...
Brain. , 2024

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

3

Initial experience of a Priority Primary Care Centre in met..:

Saddington, Emma ; Rahman, Fatima ; Stuart, Josh...
Emergency Medicine Australasia. 35 (2023) 6 - p. 1044-1046 , 2023

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

4

TRAPPC6B biallelic variants cause a neurodevelopmental diso..:

Almousa, Hashem ; Lewis, Sara A ; Bakhtiari, Somayeh...
Brain. 147 (2023) 1 - p. 311-324 , 2023

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

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

Gain and loss of function variants in EZH1 disrupt neurogen..:

Gracia-Diaz, Carolina ; Zhou, Yijing ; Yang, Qian...
Nature Communications. 14 (2023) 1 - p. , 2023

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

7

Longitudinal Meta‐Analysis of Historical Parkinson's Diseas..:

Arshad, Usman ; Rahman, Fatima ; Hanan, Nathan.
Movement Disorders. 38 (2023) 9 - p. 1716-1727 , 2023

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

8

AP4B1-associated hereditary spastic paraplegia: Expansion o..:

Salayev, Kamran ; Rocca, Clarissa ; Kaiyrzhanov, Rauan...
European Journal of Medical Genetics. 65 (2022) 11 - p. 104620 , 2022

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

9

Consolidating the association of biallelicMAPKAPK5pathogeni..:

Maroofian, Reza ; Efthymiou, Stephanie ; Suri, Mohnish...
Journal of Medical Genetics. 60 (2022) 8 - p. 791-796 , 2022

Link: https://doi.org/10.1136/..

10

An overview of different types and potential of bio-based a..:

Islam, Md Nazrul ; Rahman, Fatima ; Das, Atanu Kumar.
International Journal of Adhesion and Adhesives. 112 (2022) - p. 102992 , 2022

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

11

Pathogenic variants in PIDD1 lead to an autosomal recessive..:

Zaki, Maha S. ; Accogli, Andrea ; Mirzaa, Ghayda...
European Journal of Human Genetics. 29 (2021) 8 - p. 1226-1234 , 2021

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

12

SP10.2.12 Information Sustainability: The revitalisation an..:

Rahman, Fatima ; Hales, Alan ; Cable, David...
British Journal of Surgery. 108 (2021) Supplement_7 - p. , 2021

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

13

Water hyacinth (Eichhornia crassipes (Mart.) Solms.) as an ..:

Islam, Md Nazrul ; Rahman, Fatima ; Papri, Sumona Alom...
Journal of Environmental Management. 294 (2021) - p. 113036 , 2021

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

14

SP8.1.4 Design features of the EPR-integrated Southampton B..:

Rahman, Fatima ; Hales, Alan ; Cable, David.
British Journal of Surgery. 108 (2021) Supplement_7 - p. , 2021

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

15

Coding and noncoding variants in EBF3 are involved in HADDS..:

Padhi, Evin M. ; Hayeck, Tristan J. ; Cheng, Zhang...
Human Genomics. 15 (2021) 1 - p. , 2021

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