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Ben-Omran, Tawfeg
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1

Life-Saving Treatments for Spinal Muscular Atrophy: Global ..:

Armengol, Victor D. ; Darras, Basil T. ; Abulaban, Ahmad A....
Neurology Clinical Practice.  14 (2024)  1 - p. , 2024
Link: https://doi.org/10.1212/..
 
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2

The genetic basis and the diagnostic yield of genetic testi..:

Alkhidir, Shaza ; El-Akouri, Karen ; Al-Dewik, Nader...
Scientific Reports.  14 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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3

Pegtibatinase, an investigational enzyme replacement therap..:

Thomas, Janet ; Ben-Omran, Tawfeg ; Levy, Harvey...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108322 , 2024
Link: https://doi.org/10.1016/..
 
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4

Genetic background of primary and familial HLH in Qatar: re..:

Elgaali, Elkhansa ; Mezzavilla, Massimo ; Ahmed, Ikhlak...
Frontiers in Pediatrics.  12 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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5

Qatar's Genetic Counseling Landscape: Current Insights and ..:

Abiib, Sumaya ; Khodjet-El-khil, Houssein ; El-Akouri, Karen...
Genetics in Medicine Open.  , 2024
Link: https://doi.org/10.1016/..
 
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6

Modern approaches to the management of homozygous familial ..:

Al-Ashwal, Abdullah ; Alsagheir, Afaf ; Al Dubayee, Mohammed...
Journal of Clinical Lipidology.  18 (2024)  2 - p. e132-e141 , 2024
Link: https://doi.org/10.1016/..
 
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7

European Achondroplasia Forum Practical Considerations for ..:

Fredwall, Svein ; AlSayed, Moeenaldeen ; Ben-Omran, Tawfeg...
Advances in Therapy.  41 (2024)  7 - p. 2545-2558 , 2024
Link: https://doi.org/10.1007/..
 
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8

Correction to: Real-World Outcomes with Lomitapide Use in P..:

Ben-Omran, Tawfeg ; Masana, Luis ; Kolovou, Genovefa...
Advances in Therapy.  41 (2024)  4 - p. 1765-1769 , 2024
Link: https://doi.org/10.1007/..
 
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9

P026: The genetic spectrum of treatable inherited metabolic..:

Gandhi, Geethanjali Devadoss ; Syed, Najeeb ; Vempalli, Fazulur...
Genetics in Medicine Open.  2 (2024)  - p. 100903 , 2024
Link: https://doi.org/10.1016/..
 
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10

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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11

European Achondroplasia Forum guiding principles for the de..:

Irving, Melita ; AlSayed, Moeenaldeen ; Arundel, Paul...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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12

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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13

Real-world evidence in achondroplasia: considerations for a..:

Alanay, Yasemin ; Mohnike, Klaus ; Nilsson, Ola...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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14

Optimising care and follow-up of adults with achondroplasia:

Fredwall, Svein ; Allum, Yana ; AlSayed, Moeenaldeen...
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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15

Optimising the diagnosis and referral of achondroplasia in ..:

Cormier-Daire, Valerie ; AlSayed, Moeenaldeen ; Alves, Inês...
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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