Farber Disease Mimicking Juvenile Idiopathic Arthritis: The First Reported Case in Qatar and Review of the Literature

por Al-Naimi, Amal, Toma, Haneen, Hamad, Sara G., Ben Omran, Tawfeg
Publicado 2022

W44X mutation in the WWOX gene causes intractable seizures and developmental delay: a case report

por Elsaadany, Loai, El-Said, Mahmoud, Ali, Rehab, Kamel, Hussein, Ben-Omran, Tawfeg
Publicado 2016

Two Qatari siblings with cystic fibrosis and apparent mineralocorticoid excess

por Zahraldin, Khalid, Janahi, Ibrahim Ahmed, Ben-Omran, Tawfeg, Alsulaiman, Reem, Hamad, Bajes, Imam, Abubakr
Publicado 2015

Effects of consanguinity in a cohort of subjects with certain genetic disorders in Qatar

por Ben‐Omran, Tawfeg, Al Ghanim, Kaltham, Yavarna, Tarunashree, El Akoum, Maha, Samara, Muthanna, Chandra, Prem, Al‐Dewik, Nader
Publicado 2019

Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance

por Häberle, Johannes, Shahbeck, Noora, Ibrahim, Khalid, Schmitt, Bernhard, Scheer, Ianina, O’Gorman, Ruth, Chaudhry, Farrukh A, Ben-Omran, Tawfeg
Publicado 2012

Correction to: Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review

por Abukhaled, Musaad, Al Muqbil, Mohammed, Alghamdi, Malak Ali, Hundallah, Khalid, Suleiman, Jehan, Ben-Omran, Tawfeg, Alfadhel, Majid, Almannai, Mohammed, Alsaleh, Rehab, Tabarki, Brahim
Publicado 2023

Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review

por Abukhaled, Musaad, Al Muqbil, Mohammed, Alghamdi, Malak Ali, Hundallah, Khalid, Suleiman, Jehan, Ben-Omran, Tawfeg, Alfadhel, Majid, Almannai, Mohammed, Alsaleh, Rehab, Tabarki, Brahim
Publicado 2023

Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome

por Kambouris, Marios, Maroun, Rachid C, Ben-Omran, Tawfeg, Al-Sarraj, Yasser, Errafii, Khaoula, Ali, Rehab, Boulos, Hala, Curmi, Patrick A, El-Shanti, Hatem
Publicado 2014

Hyperinsulinism–hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype–phenotype correlations

por Kapoor, Ritika R, Flanagan, Sarah E, Fulton, Piers, Chakrapani, Anupam, Chadefaux, Bernadette, Ben-Omran, Tawfeg, Banerjee, Indraneel, Shield, Julian P, Ellard, Sian, Hussain, Khalid
Publicado 2009

Cancer genetics program: Follow‐up on clinical genetics and genomic medicine in Qatar

por Al‐Bader, Salha Bujassoum, Alsulaiman, Reem, Bugrein, Hekmet, Ben Omran, Tawfeg, Abbaszadeh, Fatemeh, Bakheet, Nawal, Apsa Kusasi, Sitti, Abdou, Nema, Solomon, Benjamin D., Ghazouani, Hafedh
Publicado 2018

Guidelines for acute management of hyperammonemia in the Middle East region

por Alfadhel, Majid, Mutairi, Fuad Al, Makhseed, Nawal, Jasmi, Fatma Al, Al-Thihli, Khalid, Al-Jishi, Emtithal, AlSayed, Moeenaldeen, Al-Hassnan, Zuhair N, Al-Murshedi, Fathiya, Häberle, Johannes, Ben-Omran, Tawfeg
Publicado 2016

Real-World Outcomes with Lomitapide Use in Paediatric Patients with Homozygous Familial Hypercholesterolaemia

por Ben-Omran, Tawfeg, Masana, Luis, Kolovou, Genovefa, Ariceta, Gema, Nóvoa, F. Javier, Lund, Allan M., Bogsrud, Martin P., Araujo, María, Hussein, Osamah, Ibarretxe, Daiana, Sanchez-Hernández, Rosa M., Santos, Raul D.
Publicado 2019

The first European consensus on principles of management for achondroplasia

por Cormier-Daire, Valerie, AlSayed, Moeenaldeen, Ben-Omran, Tawfeg, de Sousa, Sérgio Bernardo, Boero, Silvio, Fredwall, Svein O., Guillen-Navarro, Encarna, Irving, Melita, Lampe, Christian, Maghnie, Mohamad, Mortier, Geert, Peijin, Zagorka, Mohnike, Klaus
Publicado 2021

Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations

por Cormier-Daire, Valerie, AlSayed, Moeenaldeen, Alves, Inês, Bengoa, Joana, Ben-Omran, Tawfeg, Boero, Silvio, Fredwall, Svein, Garel, Catherine, Guillen-Navarro, Encarna, Irving, Melita, Lampe, Christian, Maghnie, Mohamad, Mortier, Geert, Sousa, Sérgio B., Mohnike, Klaus
Publicado 2022

Optimising care and follow-up of adults with achondroplasia

por Fredwall, Svein, Allum, Yana, AlSayed, Moeenaldeen, Alves, Inês, Ben-Omran, Tawfeg, Boero, Silvio, Cormier-Daire, Valerie, Guillen-Navarro, Encarna, Irving, Melita, Lampe, Christian, Maghnie, Mohamad, Mohnike, Klaus, Mortier, Geert, Sousa, Sérgio B., Wright, Michael
Publicado 2022

Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes

por Reis, Linda M., Tyler, Rebecca C., Weh, Eric, Hendee, Kathryn E., Kariminejad, Ariana, Abdul-Rahman, Omar, Ben-Omran, Tawfeg, Manning, Melanie A., Yesilyurt, Ahmet, McCarty, Catherine A., Kitchner, Terrie E., Costakos, Deborah, Semina, Elena V.
Publicado 2016

Clinical genetics and genomic medicine in Qatar

por Al‐Dewik, Nader, Al‐Mureikhi, Mariam, Shahbeck, Noora, Ali, Rehab, Al‐Mesaifri, Fatma, Mahmoud, Laila, Othman, Amna, AlMulla, Mariam, Sulaiman, Reem Al, Musa, Sara, Abdoh, Ghassan, El‐Akouri, Karen, Solomon, Benjamin D., Ben‐Omran, Tawfeg
Publicado 2018

European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis

por Irving, Melita, AlSayed, Moeenaldeen, Arundel, Paul, Baujat, Geneviève, Ben-Omran, Tawfeg, Boero, Silvio, Cormier-Daire, Valérie, Fredwall, Svein, Guillen-Navarro, Encarna, Hoyer-Kuhn, Heike, Kunkel, Philip, Lampe, Christian, Maghnie, Mohamad, Mohnike, Klaus, Mortier, Geert, Sousa, Sérgio B.
Publicado 2023

Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress

por Montaser, Hossam, Patel, Kashyap A., Balboa, Diego, Ibrahim, Hazem, Lithovius, Väinö, Näätänen, Anna, Chandra, Vikash, Demir, Korcan, Acar, Sezer, Ben-Omran, Tawfeg, Colclough, Kevin, Locke, Jonathan M., Wakeling, Matthew, Lindahl, Maria, Hattersley, Andrew T., Saarimäki-Vire, Jonna, Otonkoski, Timo
Publicado 2021

De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly

por Ye, Yizhou, Cho, Megan T., Retterer, Kyle, Alexander, Nora, Ben-Omran, Tawfeg, Al-Mureikhi, Mariam, Cristian, Ingrid, Wheeler, Patricia G., Crain, Carrie, Zand, Dina, Weinstein, Veronique, Vernon, Hilary J., McClellan, Rebecca, Krishnamurthy, Vidya, Vitazka, Patrik, Millan, Francisca, Chung, Wendy K.
Publicado 2015