Expanding the genetic heterogeneity of intellectual disability
Expanding the genetic heterogeneity of intellectual disability
About this item
Full title
Author / Creator
Anazi, Shams , Maddirevula, Sateesh , Salpietro, Vincenzo , Asi, Yasmine T. , Alsahli, Saud , Alhashem, Amal , Shamseldin, Hanan E. , AlZahrani, Fatema , Patel, Nisha , Ibrahim, Niema , Abdulwahab, Firdous M. , Hashem, Mais , Alhashmi, Nadia , Al Murshedi, Fathiya , Al Kindy, Adila , Alshaer, Ahmad , Rumayyan, Ahmed , Al Tala, Saeed , Kurdi, Wesam , Alsaman, Abdulaziz , Alasmari, Ali , Banu, Selina , Sultan, Tipu , Saleh, Mohammed M. , Alkuraya, Hisham , Salih, Mustafa A. , Aldhalaan, Hesham , Ben-Omran, Tawfeg , Al Musafri, Fatima , Ali, Rehab , Suleiman, Jehan , Tabarki, Brahim , El-Hattab, Ayman W. , Bupp, Caleb , Alfadhel, Majid , Al Tassan, Nada , Monies, Dorota , Arold, Stefan T. , Abouelhoda, Mohamed , Lashley, Tammaryn , Houlden, Henry , Faqeih, Eissa and Alkuraya, Fowzan S.
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
Intellectual disability (ID) is a common morbid condition with a wide range of etiologies. The list of monogenic forms of ID has increased rapidly in recent years thanks to the implementation of genomic sequencing techniques. In this study, we describe the phenotypic and genetic findings of 68 families (105 patients) all with novel ID-related varia...
Alternative Titles
Full title
Expanding the genetic heterogeneity of intellectual disability
Authors, Artists and Contributors
Author / Creator
Maddirevula, Sateesh
Salpietro, Vincenzo
Asi, Yasmine T.
Alsahli, Saud
Alhashem, Amal
Shamseldin, Hanan E.
AlZahrani, Fatema
Patel, Nisha
Ibrahim, Niema
Abdulwahab, Firdous M.
Hashem, Mais
Alhashmi, Nadia
Al Murshedi, Fathiya
Al Kindy, Adila
Alshaer, Ahmad
Rumayyan, Ahmed
Al Tala, Saeed
Kurdi, Wesam
Alsaman, Abdulaziz
Alasmari, Ali
Banu, Selina
Sultan, Tipu
Saleh, Mohammed M.
Alkuraya, Hisham
Salih, Mustafa A.
Aldhalaan, Hesham
Ben-Omran, Tawfeg
Al Musafri, Fatima
Ali, Rehab
Suleiman, Jehan
Tabarki, Brahim
El-Hattab, Ayman W.
Bupp, Caleb
Alfadhel, Majid
Al Tassan, Nada
Monies, Dorota
Arold, Stefan T.
Abouelhoda, Mohamed
Lashley, Tammaryn
Houlden, Henry
Faqeih, Eissa
Alkuraya, Fowzan S.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1942702483
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1942702483
Other Identifiers
ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-017-1843-2
