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Bader, Alhaddad
131
results:
Search for persons
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Online (131)
Mediatypes
Articles (Online) (51)
Bookchapter (Online) (1)
OpenAccess-fulltext (79)
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?
1
A new missense mutation in UMOD gene leads to severely redu..:
Satanovskij, Robin
;
Bader, Alhaddad
;
Block, Matthias
...
Clinical Biochemistry. 50 (2017) 3 - p. 155-158 , 2017
Link:
https://doi.org/10.1016/..
?
2
Reclassifying variations of unknown significance in disease..:
Al Eissa, Mariam M.
;
Alotibi, Raniah S.
;
Alhaddad, Bader
...
Frontiers in Genetics. 14 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
3
Rare EIF4A2 variants are associated with a neurodevelopment..:
Paul, Maimuna S.
;
Duncan, Anna R.
;
Genetti, Casie A.
...
The American Journal of Human Genetics. 110 (2023) 1 - p. 120-145 , 2023
Link:
https://doi.org/10.1016/..
?
4
Prospect of genetic disorders in Saudi Arabia:
Alqahtani, Amerh S.
;
Alotibi, Raniah S.
;
Aloraini, Taghrid
...
Frontiers in Genetics. 14 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
5
Bi-allelic truncating mutations in VWA1 cause neuromyopathy:
Deschauer, Marcus
;
Hengel, Holger
;
Rupprich, Katrin
...
Brain. 144 (2021) 2 - p. 574-583 , 2021
Link:
https://doi.org/10.1093/..
?
6
Defective phosphatidylethanolamine biosynthesis leads to a ..:
Kaiyrzhanov, Rauan
;
Wortmann, Saskia
;
Reid, Taryn
...
Brain. 144 (2021) 3 - p. e30-e30 , 2021
Link:
https://doi.org/10.1093/..
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7
New insights into the clinical and molecular spectrum of th..:
Begemann, Anaïs
;
Sticht, Heinrich
;
Begtrup, Amber
...
Genetics in Medicine. 23 (2021) 3 - p. 543-554 , 2021
Link:
https://doi.org/10.1038/..
?
8
De novo variants in neurodevelopmental disorders—experience..:
Brunet, Theresa
;
Jech, Robert
;
Brugger, Melanie
...
Clinical Genetics. 100 (2021) 1 - p. 14-28 , 2021
Link:
https://doi.org/10.1111/..
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9
Identification of disease-causing variants by comprehensive..:
Braunisch, Matthias Christoph
;
Riedhammer, Korbinian Maria
;
Herr, Pierre-Maurice
...
European Journal of Human Genetics. 29 (2020) 2 - p. 262-270 , 2020
Link:
https://doi.org/10.1038/..
?
10
De novo stop-loss variants in CLDN11 cause hypomyelinating ..:
Riedhammer, Korbinian M
;
Stockler, Sylvia
;
Ploski, Rafal
...
Brain. 144 (2020) 2 - p. 411-419 , 2020
Link:
https://doi.org/10.1093/..
?
11
Genotypic diversity and phenotypic spectrum of infantile li..:
Lenz, Dominic
;
Smith, Desirée E.C.
;
Crushell, Ellen
...
Genetics in Medicine. 22 (2020) 11 - p. 1863-1873 , 2020
Link:
https://doi.org/10.1038/..
?
12
Recessive null-allele variants in MAG associated with spast..:
Zech, Michael
;
Brunet, Theresa
;
Škorvánek, Matej
...
Parkinsonism & Related Disorders. 77 (2020) - p. 70-75 , 2020
Link:
https://doi.org/10.1016/..
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13
KCNC1‐related disorders: new de novo variants expand the ph..:
Park, Joohyun
;
Koko, Mahmoud
;
Hedrich, Ulrike B. S.
...
Annals of Clinical and Translational Neurology. 6 (2019) 7 - p. 1319-1326 , 2019
Link:
https://doi.org/10.1002/..
?
14
Whole‐exome sequencing revealed a nonsense mutation in STKL..:
Umair, Muhammad
;
Bilal, Muhammad
;
Ali, Raja H.
...
Clinical Genetics. 96 (2019) 2 - p. 134-139 , 2019
Link:
https://doi.org/10.1111/..
?
15
KIF16B is a candidate gene for a novel autosomal‐recessive ..:
Alsahli, Saud
;
Arold, Stefan T.
;
Alfares, Ahmed
...
American Journal of Medical Genetics Part A. 176 (2018) 7 - p. 1602-1609 , 2018
Link:
https://doi.org/10.1002/..
1-15