Search

Author/Creator AlSayed, Moeenaldeen

1. 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. Issue 11 (22nd July 2019)

Authors:
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, ...
Journal:
Human mutation
Issue:
Volume 40:Issue 11(2019)
Page Start:
1985
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants. Issue 11 (23rd August 2021)

Authors:
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
Journal:
Human mutation
Issue:
Volume 42:Issue 11(2021)
Page Start:
1384
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases. Issue 6 (20th December 2017)

Authors:
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; F...
Journal:
Annals of neurology
Issue:
Volume 82:Issue 6(2017)
Page Start:
1004
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗