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Alghamdi, Malak Ali
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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8

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/..
 
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9

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/..
 
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10

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/..
 
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11

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/..
 
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12

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/..
 
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13

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/..
 
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14

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/..
 
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15

Corrigendum to:Prevalence of DDC genotypes in patients with..:

Himmelreich, Nastassja ; Bertoldi, Mariarita ; Alfadhel, Majid...
https://research-information.bris.ac.uk/en/publications/e124cba8-b376-4981-a0d4-a4fff9a86fab.  , 2023
Link: https://hdl.handle.net/1..
 
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