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

hypercholesterolaemia Lipidology Lomitapide Low-density lipoprotein cholesterol Paediatric Real-world data Patient cases  Tawfeg Ben-Omran, Luis Masana, Genovefa Kolovou, Gema Ariceta, F. Javier Nóvoa, Allan M. Lund ... Sanofi. Raul D. Santos is a recipient of a scholarship from the Conselho Nacional de Pesquisa e Desenvolvimento Tecnologico (CNPq) process # 303734/2018-3. Tawfeg Ben-Omran, Gema Ariceta, F. Javier Nóvoa

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

Tawfeg Ben-Omran 0 1 0 Department of Pediatric, Clinical and Metabolic Genetic, Hamad Medical Corporation , Doha, State of Qatar 1 Department of Pediatric, Clinical Genetics, Weill-Cornell Medical College

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

WW domain containing oxidoreductase (WWOX) gene was cloned in 2000; alteration has been seen in many cancer cells. It acts as a tumor suppresser by blocking cell growth and causing apoptosis. WWOX protein showed different expression of mice brain and spinal cord, for which deletion causes seizure and early death. Clinical and molecular characteristics of a consanguineous family...

Autozygome and high throughput confirmation of disease genes candidacy

. Bubshait MDSection of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Doha, QatarMariam Al-Mureikhi MD & Tawfeg Ben-Omran MDGenetics Division, Department of ... • PubMed • Google Scholar Search for Majid Alfadhel MD in:Nature Research journals • PubMed • Google Scholar Search for Tawfeg Ben-Omran MD in:Nature Research journals • PubMed • Google Scholar Search for

Guidelines for acute management of hyperammonemia in the Middle East region

Guidelines for acute management of hyperammonemia in the Middle East region Majid Alfadhel,1,2 Fuad Al Mutairi,1,2 Nawal Makhseed,3 Fatma Al Jasmi,4 Khalid Al-Thihli,5 Emtithal Al-Jishi,6 Moeenaldeen AlSayed,7 Zuhair N Al-Hassnan,7,8 Fathiya Al-Murshedi,5 Johannes Häberle,9 Tawfeg Ben-Omran10 Middle East Hyperammonemia and Urea Cycle Disorders Scientific Group (MHUSG) 1Department...

Correction to: Expanding the genetic heterogeneity of intellectual disability

Fowzan S. Alkuraya 6 Brahim Tabarki 7 Caleb Bupp 8 Tawfeg BenOmran 9 Jehan Suleiman 10 Eissa Faqeih 11 Ayman W. El‐Hattab 12 Henry Houlden 13 Hesham Aldhalaan 14 Nadia Alhashmi 15 Wesam Kurdi 16 Ahmad

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

Background A consanguineous Arab family is affected by an apparently novel autosomal recessive disorder characterized by cognitive impairment, failure-to-thrive, hypotonia and dysmorphic features including bilateral ptosis and epicanthic folds, synophrys, midface hypoplasia, downturned mouth corners, thin upper vermillion border and prominent ears, bilateral 5th finger...

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

Johannes Hberle 0 Noora Shahbeck Khalid Ibrahim Bernhard Schmitt Ianina Scheer Ruth O'Gorman Farrukh A Chaudhry Tawfeg Ben-Omran 0 Division of Metabolism and Children's Research Center, University

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

Johannes Häberle1Email author, Noora Shahbeck2, Khalid Ibrahim3, Bernhard Schmitt4, Ianina Scheer5, Ruth O’Gorman6, Farrukh A Chaudhry†7 and Tawfeg Ben-Omran†2, 8, 9 †Contributed equally Orphanet ... ameliorating the effects of this devastating condition as well as to improve outcomes for this rare genetic disease. Notes Farrukh A Chaudhry and Tawfeg Ben-Omran contributed equally to this work

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Balestri Tawfeg Ben-Omran Francesco Brancati Isabel Cordeiro Bruna Santos da Cunha Louisa A Delaney Anne Destre David Fitzpatrick Francesca Forzano Neeti Ghali Greta Gillies Katerina Harwood Yvonne M C