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Malak Ali Alghamdi
439
results:
Search for persons
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Format
Online (439)
Mediatypes
E-Books (2)
Articles (Online) (375)
Bookchapter (Online) (24)
OpenAccess-fulltext (38)
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?
1
Classical phenylketonuria presenting as maternal PKU syndro..:
Alghamdi, Malak Ali
;
O'Donnell‐Luria, Anne
;
Almontashiri, Naif A.
...
JIMD Reports. 64 (2023) 5 - p. 312-316 , 2023
Link:
https://doi.org/10.1002/..
?
2
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, e..:
Faqeih, Eissa A.
;
Alghamdi, Malak Ali
;
Almahroos, Marwa A.
...
Genetics in Medicine. 25 (2023) 2 - p. 100323 , 2023
Link:
https://doi.org/10.1016/..
?
3
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/..
?
4
Prevalence of DDC genotypes in patients with aromatic L-ami..:
Himmelreich, Nastassja
;
Bertoldi, Mariarita
;
Alfadhel, Majid
...
Molecular Genetics and Metabolism. 139 (2023) 3 - p. 107624 , 2023
Link:
https://doi.org/10.1016/..
?
5
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/..
?
6
Corrigendum to: Prevalence of DDC genotypes in patients wit..:
Himmelreich, Nastassja
;
Bertoldi, Mariarita
;
Alfadhel, Majid
...
Molecular Genetics and Metabolism. 139 (2023) 4 - p. 107647 , 2023
Link:
https://doi.org/10.1016/..
?
7
Hypermanganesemia with Dystonia Type 2: A Potentially Treat..:
Alhasan, Khalid A.
;
Alshuaibi, Walaa
;
Hamad, Muddathir H.
...
Children. 9 (2022) 9 - p. 1335 , 2022
Link:
https://doi.org/10.3390/..
?
8
Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sial..:
Ali Alghamdi, Malak
;
Benabdelkamel, Hicham
;
Masood, Afshan
...
Frontiers in Genetics. 13 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
?
9
A disorder clinically resembling cystic fibrosis caused by ..:
Bertoli-Avella, Aida
;
Hotakainen, Ronja
;
Al Shehhi, Maryam
...
Journal of Medical Genetics. 59 (2021) 10 - p. 993-1001 , 2021
Link:
https://doi.org/10.1136/..
?
10
Biallelic loss‐of‐function HACD1 variants are a bona fide c..:
Abbasi‐Moheb, Lia
;
Westenberger, Ana
;
Alotaibi, Maha
...
Clinical Genetics. 99 (2021) 4 - p. 513-518 , 2021
Link:
https://doi.org/10.1111/..
?
11
A Novel Biallelic STING1 Gene Variant Causing SAVI in Two S..:
Alghamdi, Malak Ali
;
Mulla, Jaazeel
;
Saheb Sharif-Askari, Narjes
...
Frontiers in Immunology. 11 (2021) - p. , 2021
Link:
https://doi.org/10.3389/..
?
12
Combining exome/genome sequencing with data repository anal..:
Bertoli-Avella, Aida M.
;
Kandaswamy, Krishna K.
;
Khan, Suliman
...
Genetics in Medicine. 23 (2021) 8 - p. 1551-1568 , 2021
Link:
https://doi.org/10.1038/..
?
13
Molecular autopsy by proxy in preconception counseling:
Ali Alghamdi, Malak
;
Alrasheedi, Ameinah
;
Alghamdi, Esra
...
Clinical Genetics. 100 (2021) 6 - p. 678-691 , 2021
Link:
https://doi.org/10.1111/..
?
14
Succinic semialdehyde dehydrogenase deficiency presenting w..:
Alghamdi, Malak Ali
;
Alkhamis, Waleed H.
;
Jamjoom, Dima Z.
...
Clinical Case Reports. 9 (2020) 1 - p. 229-235 , 2020
Link:
https://doi.org/10.1002/..
?
15
Classical phenylketonuria presenting as maternal PKU syndro..:
Malak Ali Alghamdi
;
Anne O'Donnell‐Luria
;
Naif A. Almontashiri
...
https://doi.org/10.1002/jmd2.12384. , 2023
Link:
https://doi.org/10.1002/..
1-15