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Mohammed AlMannai
87
results:
Search for persons
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Format
Online (87)
Mediatypes
Articles (Online) (46)
OpenAccess-fulltext (41)
Languages
english (74)
french (2)
Sorted by: Relevance
Sorted by: Year
?
1
Clinical and Molecular Characteristics of Neuronal Ceroid L..:
Saleh, Mohammed M.
;
Hamhom, Abdulrahim M.
;
Al-Otaibi, Ali
...
Pediatric Neurology. 155 (2024) - p. 149-155 , 2024
Link:
https://doi.org/10.1016/..
?
2
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/..
?
3
A child with dilated cardiomyopathy and homozygous splice s..:
Alsubhi, Afaf
;
Aldarwish, Manar
;
Agrawal, Pankaj B.
...
Molecular Genetics and Metabolism Reports. 38 (2024) - p. 101027 , 2024
Link:
https://doi.org/10.1016/..
?
4
P102: KIF26A is mutated in the syndrome of congenital hydro..:
Almannai, Mohammed
;
AlAbdi, Lama
;
Maddirevula, Sateesh
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100131 , 2023
Link:
https://doi.org/10.1016/..
?
5
Aromatic L-amino acid decarboxylase deficiency in countries..:
Abukhaled, Musaad
;
Al Muqbil, Mohammed
;
Alghamdi, Malak Ali
...
European Journal of Pediatrics. 182 (2023) 6 - p. 2535-2545 , 2023
Link:
https://doi.org/10.1007/..
?
6
Correction to: Aromatic L-amino acid decarboxylase deficien..:
Abukhaled, Musaad
;
Al Muqbil, Mohammed
;
Alghamdi, Malak Ali
...
European Journal of Pediatrics. 182 (2023) 6 - p. 2547-2548 , 2023
Link:
https://doi.org/10.1007/..
?
7
A homozygous frame‐shift variant in PROSER1 is associated w..:
Salah, Azza
;
Almannai, Mohammed
;
Al Ojaimi, Mode
...
Clinical Genetics. 101 (2022) 5-6 - p. 565-570 , 2022
Link:
https://doi.org/10.1111/..
?
8
WIPI proteins: Biological functions and related syndromes:
Almannai, Mohammed
;
Marafi, Dana
;
El-Hattab, Ayman W.
Frontiers in Molecular Neuroscience. 15 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
?
9
Mitochondrial Membranes and Mitochondrial Genome: Interacti..:
Almannai, Mohammed
;
Salah, Azza
;
El-Hattab, Ayman
Membranes. 12 (2022) 6 - p. 625 , 2022
Link:
https://doi.org/10.3390/..
?
10
Uridine monophosphate (UMP)-responsive developmental and ep..:
Al-Otaibi, Ali
;
AlAyed, Alaa
;
Al Madhi, Asma
...
Molecular Genetics and Metabolism Reports. 30 (2022) - p. 100835 , 2022
Link:
https://doi.org/10.1016/..
?
11
Disorders of histone methylation: Molecular basis and clini..:
Al Ojaimi, Mode
;
Banimortada, Bashar J.
;
Othman, Amna
...
Clinical Genetics. 102 (2022) 3 - p. 169-181 , 2022
Link:
https://doi.org/10.1111/..
?
12
KIF26A is mutated in the syndrome of congenital hydrocephal..:
Almannai, Mohammed
;
AlAbdi, Lama
;
Maddirevula, Sateesh
...
Human Genetics. 142 (2022) 3 - p. 399-405 , 2022
Link:
https://doi.org/10.1007/..
?
13
HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi..:
Alfadhel, Majid
;
Abadel, Basma
;
Almaghthawi, Hind
...
Frontiers in Genetics. 13 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
?
14
El‐Hattab‐Alkuraya syndrome caused by biallelic WDR45B path..:
Almannai, Mohammed
;
Marafi, Dana
;
Abdel‐Salam, Ghada M. H.
...
Clinical Genetics. 101 (2022) 5-6 - p. 530-540 , 2022
Link:
https://doi.org/10.1111/..
?
15
Mitochondrial DNA maintenance defects: potential therapeuti..:
Almannai, Mohammed
;
El-Hattab, Ayman W.
;
Azamian, Mahshid S.
..
Molecular Genetics and Metabolism. 137 (2022) 1-2 - p. 40-48 , 2022
Link:
https://doi.org/10.1016/..
1-15