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Further delineation of HIDEA syndrome.
Maddirevula, Sateesh; Ben-Omran, Tawfeg; AlMureikhi, Mariam; Eyaid, Wafa; Arabi, Hisham; Alkuraya, Hisham; Alfaifi, Abdullah; Alfalah, Abdullah Hamed; Alsaif, Hessa S; Abdulwahab, Firdous; Alfadhel, Majid; Alkuraya, Fowzan S.
Affiliation
  • Maddirevula S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Ben-Omran T; Division of Genetic and Genomic Medicine,Sidra Medicine., Medical Genetic Department, Hamad Medical Corporation, Doha, Qatar.
  • AlMureikhi M; Division of Genetic and Genomic Medicine,Sidra Medicine., Medical Genetic Department, Hamad Medical Corporation, Doha, Qatar.
  • Eyaid W; Department of Pediatrics, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
  • Arabi H; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
  • Alkuraya H; Department of Pediatrics, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
  • Alfaifi A; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
  • Alfalah AH; Global Eye Care, Specialized Medical Center Hospital, Riyadh, Saudi Arabia.
  • Alsaif HS; Pediatrics Department, Security Forces Hospital, Riyadh, Saudi Arabia.
  • Abdulwahab F; Department of Pediatrics, Jouf University, Sakaka, Saudi Arabia.
  • Alfadhel M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Am J Med Genet A ; 182(12): 2999-3006, 2020 12.
Article de En | MEDLINE | ID: mdl-32965080
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Malformations oculaires / Épilepsie / Prolyl hydroxylases / Hypoventilation / Déficience intellectuelle / Hypotonie musculaire / Mutation Type d'étude: Prognostic_studies Limites: Child / Child, preschool / Female / Humans / Male Langue: En Journal: Am J Med Genet A Sujet du journal: GENETICA MEDICA Année: 2020 Type de document: Article Pays d'affiliation: Arabie saoudite
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: Malformations oculaires / Épilepsie / Prolyl hydroxylases / Hypoventilation / Déficience intellectuelle / Hypotonie musculaire / Mutation Type d'étude: Prognostic_studies Limites: Child / Child, preschool / Female / Humans / Male Langue: En Journal: Am J Med Genet A Sujet du journal: GENETICA MEDICA Année: 2020 Type de document: Article Pays d'affiliation: Arabie saoudite