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Ali Alghamdi, Malak
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1

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/..
 
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2

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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3

Prevalence of DDC genotypes in patients with aromatic L-ami..:

Himmelreich, Nastassja ; Bertoldi, Mariarita ; Alfadhel, Majid...
https://discovery.ucl.ac.uk/id/eprint/10172442/1/Kurian_Prevalence%20of%20DDC%20genotypes%20in%20patients%20with%20aromatic%20L-amino%20acid%20decarboxylase%20%28AADC%29%20deficiency%20and%20in%20silico%20prediction%20of%20structural%20protein%20changes_VoR.pdf.  , 2023
Link: https://discovery.ucl.ac..
 
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4

Prevalence of DDC genotypes in patients with aromatic L-ami..:

Himmelreich, Nastassja ; Bertoldi, Mariarita ; Alfadhel, Majid...
info:eu-repo/semantics/altIdentifier/pmid/37348148.  , 2023
Link: https://hdl.handle.net/1..
 
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5

Bi-allelic variants in WNT7B disrupt the development of mul..:

Bouasker, Samir ; Patel, Nisha ; Greenlees, Rebecca...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmedgenet-2022-108475.  , 2022
Link: https://u-paris.hal.scie..
 
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6

Bi-allelic variants in WNT7B disrupt the development of mul..:

Bouasker, Samir ; Patel, Nisha ; Greenlees, Rebecca...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmedgenet-2022-108475.  , 2022
Link: https://u-paris.hal.scie..
 
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7

Bi-allelic variants in WNT7B disrupt the development of mul..:

Bouasker, Samir ; Patel, Nisha ; Greenlees, Rebecca...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmedgenet-2022-108475.  , 2022
Link: https://u-paris.hal.scie..
 
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8

DataSheet1_Genomic, Proteomic, and Phenotypic Spectrum of N..:

Malak Ali Alghamdi ; Hicham Benabdelkamel ; Afshan Masood...
doi:10.3389/fgene.2022.806190.s001.  , 2022
Link: https://doi.org/10.3389/..
 
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9

Bi-allelic variants in WNT7B disrupt the development of mul..:

Bouasker, Samir ; Patel, Nisha ; Greenlees, Rebecca...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmedgenet-2022-108475.  , 2022
Link: https://u-paris.hal.scie..
 
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10

Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sial..:

Malak Ali Alghamdi ; Hicham Benabdelkamel ; Afshan Masood...
https://www.frontiersin.org/articles/10.3389/fgene.2022.806190/full.  , 2022
Link: https://doi.org/10.3389/..
 
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11

Atypical presentation of pallister–Hall syndrome with centr..:

Hala Gasim Omer ; Amal Ali Alhakami ; Malak Ali Alghamdi.
http://www.jnsmonline.org/article.asp?issn=2589-627X;year=2022;volume=5;issue=3;spage=309;epage=312;aulast=Omer.  , 2022
Link: https://doi.org/10.4103/..
 
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12

Hypermanganesemia with Dystonia Type 2: A Potentially Treat..:

Khalid A. Alhasan ; Walaa Alshuaibi ; Muddathir H. Hamad...
https://dx.doi.org/10.3390/children9091335.  , 2022
Link: https://doi.org/10.3390/..
 
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13

Bi-allelic variants in WNT7B disrupt the development of mul..:

Bouasker, Samir ; Patel, Nisha ; Greenlees, Rebecca...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmedgenet-2022-108475.  , 2022
Link: https://u-paris.hal.scie..
 
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14

Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, e..:

Faqeih, Eissa A ; Alghamdi, Malak Ali ; Almahroos, Marwa A...
https://linkinghub.elsevier.com/retrieve/pii/S109836002200987X.  , 2022
Link: http://hdl.handle.net/10..
 
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15

Bi-allelic variants in WNT7B disrupt the development of mul..:

Bouasker, Samir ; Patel, Nisha ; Greenlees, Rebecca...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmedgenet-2022-108475.  , 2022
Link: https://u-paris.hal.scie..
 
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