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Expanding the phenome and variome of skeletal dysplasia.
Maddirevula, Sateesh; Alsahli, Saud; Alhabeeb, Lamees; Patel, Nisha; Alzahrani, Fatema; Shamseldin, Hanan E; Anazi, Shams; Ewida, Nour; Alsaif, Hessa S; Mohamed, Jawahir Y; Alazami, Anas M; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Abouelhoda, Mohamed; Monies, Dorota; Al Tassan, Nada; Alshammari, Muneera; Alsagheir, Afaf; Seidahmed, Mohammed Zain; Sogati, Samira; Aglan, Mona S; Hamad, Muddathir H; Salih, Mustafa A; Hamed, Ahlam A; Alhashmi, Nadia; Nabil, Amira; Alfadli, Fatima; Abdel-Salam, Ghada M H; Alkuraya, Hisham; Peitee, Winnie Ong; Keng, W T; Qasem, Abdullah; Mushiba, Aziza M; Zaki, Maha S; Fassad, Mahmoud R; Alfadhel, Majid; Alexander, Saji; Sabr, Yasser; Temtamy, Samia; Ekbote, Alka V; Ismail, Samira; Hosny, Gamal Ahmed; Otaify, Ghada A; Amr, Khalda; Al Tala, Saeed; Khan, Arif O; Rizk, Tamer; Alaqeel, Aida; Alsiddiky, Abdulmonem.
Afiliação
  • Maddirevula S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Alsahli S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Alhabeeb L; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Patel N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Alzahrani F; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Shamseldin HE; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Anazi S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Ewida N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Alsaif HS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Mohamed JY; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Alazami AM; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Ibrahim N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Abdulwahab F; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Hashem M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Abouelhoda M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Monies D; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
  • Al Tassan N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Alshammari M; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
  • Alsagheir A; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Seidahmed MZ; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
  • Sogati S; Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Aglan MS; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Hamad MH; Pediatric Department, Forces Hospital, Riyadh, Saudi Arabia.
  • Salih MA; Department of Medical Genetics, King Fahad General Hospital, Jeddah, Saudi Arabia.
  • Hamed AA; Clinical Genetics Department, Human Genetics & Genome Research Division, Center of Excellence of Human Genetics, National Research Centre, Cairo, Egypt.
  • Alhashmi N; Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Nabil A; Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Alfadli F; Department of Pediatrics and Child Health, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
  • Abdel-Salam GMH; Department of Pediatrics, Royal Hospital, Muscat, Oman.
  • Alkuraya H; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt.
  • Peitee WO; Department of Pediatrics, Maternity and Children's Hospital, Medina, Saudi Arabia.
  • Keng WT; Clinical Genetics Department, Human Genetics & Genome Research Division, Center of Excellence of Human Genetics, National Research Centre, Cairo, Egypt.
  • Qasem A; Global Eye Care, Specialized Medical Center Hospital, Riyadh, Saudi Arabia.
  • Mushiba AM; Clinical Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.
  • Zaki MS; Clinical Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.
  • Fassad MR; Department of Pediatric, Prince Sultan Medical Military City, Riyadh, Saudi Arabia.
  • Alfadhel M; Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Alexander S; Clinical Genetics Department, Human Genetics & Genome Research Division, Center of Excellence of Human Genetics, National Research Centre, Cairo, Egypt.
  • Sabr Y; The Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt.
  • Temtamy S; King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Genetics Division, Department of Pediatrics, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia.
  • Ekbote AV; Department of Paediatric Endocrinology and Diabetes, Chelsea and Westminster Hospital NHS Foundation Trust, London, UK.
  • Ismail S; Department of Obstetrics and Gynecology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Hosny GA; Clinical Genetics Department, Human Genetics & Genome Research Division, Center of Excellence of Human Genetics, National Research Centre, Cairo, Egypt.
  • Otaify GA; Clinical Genetics Unit, Christian Medical College, Vellore, India.
  • Amr K; Clinical Genetics Department, Human Genetics & Genome Research Division, Center of Excellence of Human Genetics, National Research Centre, Cairo, Egypt.
  • Al Tala S; Department of Orthopedic Surgery, Banha University, Banha, Egypt.
  • Khan AO; Clinical Genetics Department, Human Genetics & Genome Research Division, Center of Excellence of Human Genetics, National Research Centre, Cairo, Egypt.
  • Rizk T; Clinical Genetics Department, Human Genetics & Genome Research Division, Center of Excellence of Human Genetics, National Research Centre, Cairo, Egypt.
  • Alaqeel A; Department of Pediatrics, Armed Forces Hospital Program Southwest Region, Khamis Mushait, Saudi Arabia.
  • Alsiddiky A; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Genet Med ; 20(12): 1609-1616, 2018 12.
Article em En | MEDLINE | ID: mdl-29620724
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Heterogeneidade Genética / Predisposição Genética para Doença / Exoma / Anormalidades Musculoesqueléticas Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Arábia Saudita
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Heterogeneidade Genética / Predisposição Genética para Doença / Exoma / Anormalidades Musculoesqueléticas Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Arábia Saudita