E-LIB Suche - Ergebnisse für: Fassad, Mahmoud R.

1

Clinical, biochemical, and genetic spectrum of MADD in a So..:

Bisschoff, Michelle ; Smuts, Izelle ; Dercksen, Marli...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

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

2

Ciliopathy patient variants reveal organelle-specific funct..:

Dodd, Daniel O. ; Mechaussier, Sabrina ; Yeyati, Patricia L....
Science. 384 (2024) 6694 - p. , 2024

Link: https://doi.org/10.1126/..

3

Primary ciliary dyskinesia in Egypt: First report of cilia ..:

Shoman, Walaa ; Elbanna, Amr G. ; Fassad, Mahmoud R....
Pediatric Pulmonology. 59 (2024) 6 - p. 1578-1588 , 2024

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

4

Neuromuscular disease genetics in under-represented populat..:

Wilson, Lindsay A ; Macken, William L ; Perry, Luke D...
Brain. 146 (2023) 12 - p. 5098-5109 , 2023

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

5

The Palestinian primary ciliary dyskinesia population: firs..:

Rumman, Nisreen ; Fassad, Mahmoud R. ; Driessens, Corine...
ERJ Open Research. 9 (2023) 2 - p. 00714-2022 , 2023

Link: https://doi.org/10.1183/..

6

Pathological variants in TOP3A cause distinct disorders of ..:

Erdinc, Direnis ; Rodríguez‐Luis, Alejandro ; Fassad, Mahmoud R...
EMBO Molecular Medicine. 15 (2023) 5 - p. , 2023

Link: https://doi.org/10.15252..

7

Defective airway intraflagellar transport underlies a combi..:

Fassad, Mahmoud R ; Rumman, Nisreen ; Junger, Katrin...
Human Molecular Genetics. 32 (2023) 21 - p. 3090-3104 , 2023

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

8

Axonemal structures reveal mechanoregulatory and disease me..:

Walton, Travis ; Gui, Miao ; Velkova, Simona...
Nature. 618 (2023) 7965 - p. 625-633 , 2023

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

9

CFAP300 mutation causing primary ciliary dyskinesia in Finl..:

Schultz, Rüdiger ; Elenius, Varpu ; Fassad, Mahmoud R....
Frontiers in Genetics. 13 (2022) - p. , 2022

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

10

Higher throughput drug screening for rare respiratory disea..:

Lee, Dani Do Hyang ; Cardinale, Daniela ; Nigro, Ersilia...
European Respiratory Journal. 58 (2021) 4 - p. 2000455 , 2021

Link: https://doi.org/10.1183/..

11

Clinical and genetic spectrum in 33 Egyptian families with ..:

Fassad, Mahmoud R. ; Shoman, Walaa I. ; Morsy, Heba...
Clinical Genetics. 97 (2019) 3 - p. 509-515 , 2019

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

12

Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motil..:

Fassad, Mahmoud R. ; Shoemark, Amelia ; Legendre, Marie...
The American Journal of Human Genetics. 103 (2018) 6 - p. 984-994 , 2018

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

13

X-linked primary ciliary dyskinesia due to mutations in the..:

Olcese, Chiara ; Patel, Mitali P. ; Shoemark, Amelia...
Nature Communications. 8 (2017) 1 - p. , 2017

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

14

CYP1B1 and myocilin gene mutations in Egyptian patients wit..:

Fassad, Mahmoud R. ; Amin, Asmaa K. ; Morsy, Heba A....
Egyptian Journal of Medical Human Genetics. 18 (2017) 3 - p. 219-224 , 2017

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

15

Clinical, biochemical, and genetic spectrum of MADD in a So..:

Bisschoff, Michelle ; Smuts, Izelle ; Dercksen, Marli...
Bisschoff, M., Smuts, I., Dercksen, M. et al. Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study. Orphanet Journal of Rare Diseases 19, 15 (2024). https://doi.org/10.1186/s13023-023-03014-8.. , 2024

Link: http://hdl.handle.net/22..