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Mohammed AlMannai
87  results:
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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