Correction: Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region by Zuhair Al-Hassnan, Nadia Al Hashmi, Nawal Makhseed, Tawfeg Ben Omran, Fatma Al Jasmi, Amal Al Teneiji

Get full text

Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region by Zuhair Al-Hassnan, Nadia Al Hashmi, Nawal Makhseed, Tawfeg Ben Omran, Fatma Al Jasmi, Amal Al Teneiji

Get full text

Effects of consanguinity in a cohort of subjects with certain genetic disorders in Qatar by Tawfeg Ben‐Omran, Kaltham Al Ghanim, Tarunashree Yavarna, Maha El Akoum, Muthanna Samara, Prem Chandra, Nader Al‐Dewik

Get full text

The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region by Moeenaldeen AlSayed, Fatma Al-Jasmi, Tawfeg Ben Omran, Fathiya Al-Murshedi, Rawda Sunbul, Nadia Al-Hashmi, Talal Al-Enazi

Get full text

A Novel Missense Mutation in Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome) by Yasser Al-Sarraj BSC, Tawfeg Ben-Omran MD, Mohammed Tolefat MBBS, Yosra Bejaoui MSc, Hatem El-Shanti MD, Marios Kambouris PhD

Get full text

The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar by Shaza Alkhidir, Karen El-Akouri, Nader Al-Dewik, Houssein Khodjet-El-khil, Sarah Okashah, Nazmul Islam, Tawfeg Ben-Omran, Mashael Al-Shafai

Get full text

P026: The genetic spectrum of treatable inherited metabolic disorders identified in a large Middle Eastern biobank by Geethanjali Devadoss Gandhi, Najeeb Syed, Fazulur Vempalli, Mona Abdi, Elbay Aliyev, Navaneethakrishnan Krishnamoorthy, Chadi Saad, Hamdi Mbarek, Ramin Badii, Qatar Genome Program Research Consortium, Ammira Akil, Tawfeg Ben-Omran, Khalid Fakhro

Get full text

Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features by Mariam Almuriekhi, Takafumi Shintani, Somayyeh Fahiminiya, Akihiro Fujikawa, Kazuya Kuboyama, Yasushi Takeuchi, Zafar Nawaz, Javad Nadaf, Hussein Kamel, Abu Khadija Kitam, Zaineddin Samiha, Laila Mahmoud, Tawfeg Ben-Omran, Jacek Majewski, Masaharu Noda

Get full text

The first European consensus on principles of management for achondroplasia by Valerie Cormier-Daire, Moeenaldeen AlSayed, Tawfeg Ben-Omran, Sérgio Bernardo de Sousa, Silvio Boero, Svein O. Fredwall, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Zagorka Peijin, Klaus Mohnike

Get full text

Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations by Valerie Cormier-Daire, Moeenaldeen AlSayed, Inês Alves, Joana Bengoa, Tawfeg Ben-Omran, Silvio Boero, Svein Fredwall, Catherine Garel, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Sérgio B. Sousa, Klaus Mohnike

Get full text

Optimising care and follow-up of adults with achondroplasia by Svein Fredwall, Yana Allum, Moeenaldeen AlSayed, Inês Alves, Tawfeg Ben-Omran, Silvio Boero, Valerie Cormier-Daire, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Klaus Mohnike, Geert Mortier, Sérgio B. Sousa, Michael Wright

Get full text

European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis by Melita Irving, Moeenaldeen AlSayed, Paul Arundel, Geneviève Baujat, Tawfeg Ben-Omran, Silvio Boero, Valérie Cormier-Daire, Svein Fredwall, Encarna Guillen-Navarro, Heike Hoyer-Kuhn, Philip Kunkel, Christian Lampe, Mohamad Maghnie, Klaus Mohnike, Geert Mortier, Sérgio B. Sousa

Get full text

Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome by Claudia Cozma, Marina Hovakimyan, Marius-Ionuț Iurașcu, Nawal Makhseed, Laila A. Selim, Amal M. Alhashem, Tawfeg Ben-Omran, Iman G. Mahmoud, Nihal M. Al Menabawy, Mariam Al-Mureikhi, Magi Martin, Laura Demuth, Zafer Yüksel, Christian Beetz, Peter Bauer, Arndt Rolfs

Get full text

Burden of Mendelian disorders in a large Middle Eastern biobank by Waleed Aamer, Aljazi Al-Maraghi, Najeeb Syed, Geethanjali Devadoss Gandhi, Elbay Aliyev, Alya A. Al-Kurbi, Omayma Al-Saei, Muhammad Kohailan, Navaneethakrishnan Krishnamoorthy, Sasirekha Palaniswamy, Khulod Al-Malki, Saleha Abbasi, Nourhen Agrebi, Fatemeh Abbaszadeh, Ammira S. Al-Shabeeb Akil, Ramin Badii, Tawfeg Ben-Omran, Bernice Lo, The Qatar Genome Program Research Consortium, Younes Mokrab, Khalid A. Fakhro

Get full text

Real-world evidence in achondroplasia: considerations for a standardized data set by Yasemin Alanay, Klaus Mohnike, Ola Nilsson, Inês Alves, Moeenaldeen AlSayed, Natasha M. Appelman-Dijkstra, Genevieve Baujat, Tawfeg Ben-Omran, Sandra Breyer, Valerie Cormier-Daire, Pernille Axél Gregersen, Encarna Guillén-Navarro, Wolfgang Högler, Mohamad Maghnie, Swati Mukherjee, Shelda Cohen, Jeanne Pimenta, Angelo Selicorni, J. Oliver Semler, Sabine Sigaudy, Dmitry Popkov, Ian Sabir, Susana Noval, Marco Sessa, Melita Irving

Get full text