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The neuroimaging findings of monocarboxylate transporter 1 deficiency.
Published in:
Neuroradiology, 2020, v. 62, n. 7, p. 891, doi. 10.1007/s00234-020-02435-7
By:
- Nicolas-Jilwan, Manal;
- Medlej, Rita;
- Sulaiman, Raashda A;
- AlSayed, Moeenaldeen
Publication type:
Article
Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis.
Published in:
Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2256
By:
- Alabdulrazzaq, Fatima;
- Alanzi, Talal;
- Al‐Balool, Haya H.;
- Gardham, Alice;
- Wakeling, Emma;
- Leitch, Harry G.;
- AlSayed, Moeenaldeen;
- Abdulrahim, Maha;
- Aladwani, Abdulaziz;
- Romito, Antonio;
- Kampe, Kapil;
- Ferdinandusse, Sacha;
- Aboelanine, Ashraf H.;
- Abdullah, Amira;
- Alwadani, Amal;
- Bastaki, Laila;
- Vaz, Frédéric M.;
- Bertoli‐Avella, Aida M.;
- Marafi, Dana
Publication type:
Article
Mucopolysaccharidoses: overview of neuroimaging manifestations.
Published in:
2018
By:
- Nicolas-Jilwan, Manal;
- AlSayed, Moeenaldeen
Publication type:
journal article
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Published in:
Human Genetics, 2017, v. 136, n. 8, p. 921, doi. 10.1007/s00439-017-1821-8
By:
- Monies, Dorota;
- Abouelhoda, Mohamed;
- AlSayed, Moeenaldeen;
- Alhassnan, Zuhair;
- Alotaibi, Maha;
- Kayyali, Husam;
- Al-Owain, Mohammed;
- Shah, Ayaz;
- Rahbeeni, Zuhair;
- Al-Muhaizea, Mohammad;
- Alzaidan, Hamad;
- Cupler, Edward;
- Bohlega, Saeed;
- Faqeih, Eissa;
- Faden, Maha;
- Alyounes, Banan;
- Jaroudi, Dyala;
- Goljan, Ewa;
- Elbardisy, Hadeel;
- Akilan, Asma
Publication type:
Article
Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders.
Published in:
2017
By:
- Alfadhel, Majid;
- Al Othaim, Ali;
- Al Saif, Saif;
- Al Mutairi, Fuad;
- Alsayed, Moeenaldeen;
- Rahbeeni, Zuhair;
- Alzaidan, Hamad;
- Alowain, Mohammed;
- Al‐Hassnan, Zuhair;
- Saeedi, Mohamad;
- Aljohery, Saeed;
- Alasmari, Ali;
- Faqeih, Eissa;
- Alwakeel, Mansour;
- AlMashary, Maher;
- Almohameed, Sulaiman;
- Alzahrani, Mohammed;
- Migdad, Abeer;
- Al‐Dirbashi, Osama Y;
- Rashed, Mohamed
Publication type:
journal article
European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02795-2
By:
- 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.
Publication type:
Article
Real-world evidence in achondroplasia: considerations for a standardized data set.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02755-w
By:
- Alanay, Yasemin;
- Mohnike, Klaus;
- Nilsson, Ola;
- Alves, Inês;
- AlSayed, Moeenaldeen;
- Appelman-Dijkstra, Natasha M.;
- Baujat, Genevieve;
- Ben-Omran, Tawfeg;
- Breyer, Sandra;
- Cormier-Daire, Valerie;
- Gregersen, Pernille Axél;
- Guillén-Navarro, Encarna;
- Högler, Wolfgang;
- Maghnie, Mohamad;
- Mukherjee, Swati;
- Cohen, Shelda;
- Pimenta, Jeanne;
- Selicorni, Angelo;
- Semler, J. Oliver;
- Sigaudy, Sabine
Publication type:
Article
SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion.
Published in:
Journal of Inherited Metabolic Disease Reports, 2021, v. 60, n. 1, p. 75, doi. 10.1002/jmd2.12218
By:
- Aldosary, Mazhor;
- Baselm, Shahad;
- Abdulrahim, Maha;
- Almass, Rawan;
- Alsagob, Maysoon;
- AlMasseri, Zainab;
- Huma, Rozeena;
- AlQuait, Laila;
- Al‐Shidi, Tarfa;
- Al‐Obeid, Eman;
- AlBakheet, Albandary;
- Alahideb, Basma;
- Alahaidib, Lujane;
- Qari, Alya;
- Taylor, Robert W.;
- Colak, Dilek;
- AlSayed, Moeenaldeen D.;
- Kaya, Namik
Publication type:
Article
Optimising care and follow-up of adults with achondroplasia.
Published in:
Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02479-3
By:
- 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
Publication type:
Article
Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations.
Published in:
2022
By:
- 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
Publication type:
journal article
The first European consensus on principles of management for achondroplasia.
Published in:
2021
By:
- 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
Publication type:
journal article
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Published in:
2017
By:
- Maas, Roeltje R.;
- Iwanicka‐Pronicka, Katarzyna;
- Kalkan Ucar, Sema;
- Alhaddad, Bader;
- AlSayed, Moeenaldeen;
- Al‐Owain, Mohammed A.;
- Al‐Zaidan, Hamad I.;
- Balasubramaniam, Shanti;
- Barić, Ivo;
- Bubshait, Dalal K.;
- Burlina, Alberto;
- Christodoulou, John;
- Chung, Wendy K.;
- Colombo, Roberto;
- Darin, Niklas;
- Freisinger, Peter;
- Garcia Silva, Maria Teresa;
- Grunewald, Stephanie;
- Haack, Tobias B.;
- van Hasselt, Peter M.
Publication type:
journal article
Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome.
Published in:
Journal of Inherited Metabolic Disease, 2016, v. 39, n. 6, p. 839, doi. 10.1007/s10545-016-9973-6
By:
- Hendriksz, Christian;
- Berger, Kenneth;
- Parini, Rossella;
- AlSayed, Moeenaldeen;
- Raiman, Julian;
- Giugliani, Roberto;
- Mitchell, John;
- Burton, Barbara;
- Guelbert, Norberto;
- Stewart, Fiona;
- Hughes, Derralynn;
- Matousek, Robert;
- Jurecki, Elaina;
- Decker, Celeste;
- Harmatz, Paul
Publication type:
Article
A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families.
Published in:
Cells (2073-4409), 2022, v. 11, n. 19, p. 3154, doi. 10.3390/cells11193154
By:
- Aldosary, Mazhor;
- Alsagob, Maysoon;
- AlQudairy, Hanan;
- González-Álvarez, Ana C.;
- Arold, Stefan T.;
- Dababo, Mohammad Anas;
- Alharbi, Omar A.;
- Almass, Rawan;
- AlBakheet, AlBandary;
- AlSarar, Dalia;
- Qari, Alya;
- Al-Ansari, Mysoon M.;
- Oláhová, Monika;
- Al-Shahrani, Saif A.;
- AlSayed, Moeenaldeen;
- Colak, Dilek;
- Taylor, Robert W.;
- AlOwain, Mohammed;
- Kaya, Namik
Publication type:
Article
Knowledge and attitudes regarding non‐invasive prenatal testing among women in Saudi Arabia.
Published in:
Prenatal Diagnosis, 2021, v. 41, n. 10, p. 1343, doi. 10.1002/pd.5991
By:
- Bawazeer, Shahad;
- AlSayed, Moeenaldeen;
- Kurdi, Wesam;
- Balobaid, Ameera
Publication type:
Article
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.
Published in:
Human Mutation, 2021, v. 42, n. 11, p. 1384, doi. 10.1002/humu.24270
By:
- Zanetti, Alessandra;
- D'Avanzo, Francesca;
- AlSayed, Moeenaldeen;
- Brusius‐Facchin, Ana Carolina;
- Chien, Yin‐Hsiu;
- Giugliani, Roberto;
- Izzo, Emanuela;
- Kasper, David C.;
- Lin, Hsiang‐Yu;
- Lin, Shuan‐Pei;
- Pollard, Laura;
- Singh, Akashdeep;
- Tonin, Rodolfo;
- Wood, Tim;
- Morrone, Amelia;
- Tomanin, Rosella
Publication type:
Article
Homozygous loss‐of‐function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. 1985, doi. 10.1002/humu.23844
By:
- Suleiman, Jehan;
- Riedhammer, Korbinian M.;
- Jicinsky, Timothy;
- Mundt, Melinda;
- Werner, Laurie;
- Gusic, Mirjana;
- Burgemeister, Anna L.;
- Alsaif, Hessa S.;
- Abdulrahim, Maha;
- Moghrabi, Nabil N;
- Nicolas‐Jilwan, Manal;
- AlSayed, Moeenaldeen;
- Bi, Weimin;
- Sampath, Srirangan;
- Alkuraya, Fowzan S.;
- El‐Hattab, Ayman W.
Publication type:
Article
European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia.
Published in:
Advances in Therapy, 2024, v. 41, n. 7, p. 2545, doi. 10.1007/s12325-024-02880-3
By:
- Fredwall, Svein;
- AlSayed, Moeenaldeen;
- Ben-Omran, Tawfeg;
- Boero, Silvio;
- Cormier-Daire, Valérie;
- Fauroux, Brigitte;
- Guillén-Navarro, Encarna;
- Innig, Florian;
- Kunkel, Philip;
- Lampe, Christian;
- Maghnie, Mohamad;
- Mohnike, Klaus;
- Mortier, Geert;
- Pejin, Zagorka;
- Sessa, Marco;
- Sousa, Sérgio B.;
- Irving, Melita
Publication type:
Article
Guidelines for acute management of hyperammonemia in the Middle East region.
Published in:
2016
By:
- Alfadhel, Majid;
- Al Mutairi, Fuad;
- Makhseed, Nawal;
- Al Jasmi, Fatma;
- Al-Thihli, Khalid;
- Al-Jishi, Emtithal;
- Alsayed, Moeenaldeen;
- Al-Hassnan, Zuhair N.;
- Al-Murshedi, Fathiya;
- Häberle, Johannes;
- Ben-Omran, Tawfeg;
- Mutairi, Fuad Al;
- Jasmi, Fatma Al
Publication type:
journal article

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