Characterizing the morbid genome of ciliopathies
Characterizing the morbid genome of ciliopathies
About this item
Full title
Author / Creator
Shaheen, Ranad , Szymanska, Katarzyna , Basu, Basudha , Patel, Nisha , Ewida, Nour , Faqeih, Eissa , Al Hashem, Amal , Derar, Nada , Alsharif, Hadeel , Aldahmesh, Mohammed A. , Alazami, Anas M. , Hashem, Mais , Ibrahim, Niema , Abdulwahab, Firdous M. , Sonbul, Rawda , Alkuraya, Hisham , Alnemer, Maha , Al Tala, Saeed , Al-Husain, Muneera , Morsy, Heba , Seidahmed, Mohammed Zain , Meriki, Neama , Al-Owain, Mohammed , AlShahwan, Saad , Tabarki, Brahim , Salih, Mustafa A. , Faquih, Tariq , El-Kalioby, Mohamed , Ueffing, Marius , Boldt, Karsten , Logan, Clare V. , Parry, David A. , Al Tassan, Nada , Monies, Dorota , Megarbane, Andre , Abouelhoda, Mohamed , Halees, Anason , Johnson, Colin A. , Alkuraya, Fowzan S. and Ciliopathy WorkingGroup
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable progress has been made in understanding the molecular basis of these genetically heterogeneous conditions; however, our knowledge of their morbid genome, pleiotropy, and variable expressivity remains incomplete.
We applied genomic approaches on a large patient cohort...
Alternative Titles
Full title
Characterizing the morbid genome of ciliopathies
Authors, Artists and Contributors
Author / Creator
Szymanska, Katarzyna
Basu, Basudha
Patel, Nisha
Ewida, Nour
Faqeih, Eissa
Al Hashem, Amal
Derar, Nada
Alsharif, Hadeel
Aldahmesh, Mohammed A.
Alazami, Anas M.
Hashem, Mais
Ibrahim, Niema
Abdulwahab, Firdous M.
Sonbul, Rawda
Alkuraya, Hisham
Alnemer, Maha
Al Tala, Saeed
Al-Husain, Muneera
Morsy, Heba
Seidahmed, Mohammed Zain
Meriki, Neama
Al-Owain, Mohammed
AlShahwan, Saad
Tabarki, Brahim
Salih, Mustafa A.
Faquih, Tariq
El-Kalioby, Mohamed
Ueffing, Marius
Boldt, Karsten
Logan, Clare V.
Parry, David A.
Al Tassan, Nada
Monies, Dorota
Megarbane, Andre
Abouelhoda, Mohamed
Halees, Anason
Johnson, Colin A.
Alkuraya, Fowzan S.
Ciliopathy WorkingGroup
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5126998
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5126998
Other Identifiers
ISSN
1474-760X,1474-7596
E-ISSN
1474-760X
DOI
10.1186/s13059-016-1099-5
