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Identification of a novel MKS locus defined by TMEM107 mutation.
Shaheen, Ranad; Almoisheer, Agaadir; Faqeih, Eissa; Babay, Zainab; Monies, Dorota; Tassan, Nada; Abouelhoda, Mohamed; Kurdi, Wesam; Al Mardawi, Elham; Khalil, Mohamed M I; Seidahmed, Mohammed Zain; Alnemer, Maha; Alsahan, Nada; Sogaty, Samira; Alhashem, Amal; Singh, Ankur; Goyal, Manisha; Kapoor, Seema; Alomar, Rana; Ibrahim, Niema; Alkuraya, Fowzan S.
Affiliation
  • Shaheen R; Department of Genetics and.
  • Almoisheer A; Department of Genetics and.
  • Faqeih E; Department of Pediatric Subspecialty, Children's Specialized Hospital, King Fahad Medical City, Riyadh 59046, Saudi Arabia.
  • Babay Z; Depatment of Obstetrics and Gynecology, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Monies D; Department of Genetics and Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
  • Tassan N; Department of Genetics and Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
  • Abouelhoda M; Department of Genetics and Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
  • Kurdi W; Department of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Al Mardawi E; Department of Obstetrics and Gynecology and.
  • Khalil MM; Department of Obstetrics and Gynecology and Department of Obstetrics and Gynecology, Menoufiya University, Menoufiya, Egypt.
  • Seidahmed MZ; Department of Pediatrics, Security Forces Hospital Program, Riyadh, Saudi Arabia.
  • Alnemer M; Department of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Alsahan N; Department of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Sogaty S; Department of Medical Genetics, King Fahad General Hospital, Jeddah, Saudi Arabia.
  • Alhashem A; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh 11159, Saudi Arabia.
  • Singh A; Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, UP, India.
  • Goyal M; Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, UP, India.
  • Kapoor S; Department of Pediatrics Genetic & Research Laboratory, Maulana Azad Medical College, New Delhi, India and.
  • Alomar R; Department of Genetics and.
  • Ibrahim N; Department of Genetics and.
  • Alkuraya FS; Department of Genetics and Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia, Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia falkuraya@kfshrc.edu.sa alkuraya@outlook.com.
Hum Mol Genet ; 24(18): 5211-8, 2015 Sep 15.
Article de En | MEDLINE | ID: mdl-26123494
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Troubles de la motilité ciliaire / Encéphalocèle / Locus génétiques / Polykystoses rénales / Protéines membranaires / Mutation Type d'étude: Diagnostic_studies / Prognostic_studies Limites: Female / Humans / Male Langue: En Journal: Hum Mol Genet Sujet du journal: BIOLOGIA MOLECULAR / GENETICA MEDICA Année: 2015 Type de document: Article Pays de publication: Royaume-Uni
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Troubles de la motilité ciliaire / Encéphalocèle / Locus génétiques / Polykystoses rénales / Protéines membranaires / Mutation Type d'étude: Diagnostic_studies / Prognostic_studies Limites: Female / Humans / Male Langue: En Journal: Hum Mol Genet Sujet du journal: BIOLOGIA MOLECULAR / GENETICA MEDICA Année: 2015 Type de document: Article Pays de publication: Royaume-Uni