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Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients.
Mabrouk, Imed; Al-Harthi, Nawal; Mani, Rahma; Montantin, Guy; Tissier, Sylvie; Lagha, Rihab; Ben Abdallah, Fethi; Hassan, Mohamad M; Alhomrani, Majid; Gaber, Ahmed; Alsanie, Walaa F; Ouali, Hanadi; Jambi, Fatma A; Almaghamsi, Talal M; Alqarni, Nawal A; Alfarsi, Nawaf A; Kashgari, Khadija; Al-Zahrani, Hasna J; Al-Shamary, Zamel A; Al-Harbi, Abdullah; Amselem, Serge; Escudier, Estelle; Legendre, Marie.
Afiliação
  • Mabrouk I; Department of Biology, College of Science, Taif University, Taif, 21944, Saudi Arabia. mabrouk_imed@yahoo.fr.
  • Al-Harthi N; Department of Biology, College of Science, Taif University, Taif, 21944, Saudi Arabia.
  • Mani R; Inserm UMR_S933, Sorbonne Université, Childhood Genetic Disorders, Hôpital Armand-Trousseau, Paris, France.
  • Montantin G; Unité de recherche UR14ES19, Faculté de Médecine de Sousse, Université de Sousse, Sousse, Tunisia.
  • Tissier S; U.F. de Génétique moléculaire (AP-HP), Sorbonne Université, Hôpital Armand-Trousseau, Paris, France.
  • Lagha R; U.F. de Génétique moléculaire (AP-HP), Sorbonne Université, Hôpital Armand-Trousseau, Paris, France.
  • Ben Abdallah F; Department of Biology, College of Science, Taif University, Taif, 21944, Saudi Arabia.
  • Hassan MM; Department of Biology, College of Science, Taif University, Taif, 21944, Saudi Arabia.
  • Alhomrani M; Department of Biology, College of Science, Taif University, Taif, 21944, Saudi Arabia.
  • Gaber A; Department of Clinical Laboratories Sciences, The Faculty of Applied Medical Sciences, Taif University, Taif, 21944, Saudi Arabia.
  • Alsanie WF; Department of Biology, College of Science, Taif University, Taif, 21944, Saudi Arabia.
  • Ouali H; Department of Clinical Laboratories Sciences, The Faculty of Applied Medical Sciences, Taif University, Taif, 21944, Saudi Arabia.
  • Jambi FA; Respiratory Clinic, King Faisal Medical Complex, Taif, 26514-8245, Saudi Arabia.
  • Almaghamsi TM; Pediatric Department, Maternity and Children Hospital, Makkah, Saudi Arabia.
  • Alqarni NA; King Faisal Specialist Hospital and Research Center, Jeddah, 23433, Saudi Arabia.
  • Alfarsi NA; King Faisal Specialist Hospital and Research Center, Jeddah, 23433, Saudi Arabia.
  • Kashgari K; King Faisal Specialist Hospital and Research Center, Jeddah, 23433, Saudi Arabia.
  • Al-Zahrani HJ; Pediatric Department, Maternity and Children Hospital, Jeddah, 23324, Saudi Arabia.
  • Al-Shamary ZA; Pediatric Department, Maternity and Children Hospital, Jeddah, 23324, Saudi Arabia.
  • Al-Harbi A; Pediatric Department, King Khalid Hospital, Hail, 5032-55421, Saudi Arabia.
  • Amselem S; Pediatric Department, Al Hada Armed Forces Hospital, Taif, Saudi Arabia.
  • Escudier E; Inserm UMR_S933, Sorbonne Université, Childhood Genetic Disorders, Hôpital Armand-Trousseau, Paris, France.
  • Legendre M; U.F. de Génétique moléculaire (AP-HP), Sorbonne Université, Hôpital Armand-Trousseau, Paris, France.
J Hum Genet ; 67(7): 381-386, 2022 Jul.
Article em En | MEDLINE | ID: mdl-35046476
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Kartagener / Proteínas do Citoesqueleto Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Humans País/Região como assunto: Asia Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Arábia Saudita
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Kartagener / Proteínas do Citoesqueleto Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Humans País/Região como assunto: Asia Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Arábia Saudita