Zobrazeno 1 - 4
of 4
pro vyhledávání: '"DD, Developmental delay"'
Autor:
Ammar Albanna, Maha El Naofal, Ahmad N. Abou Tayoun, Mohammed Uddin, Zeinab Alloub, Yasmeen Qutub, Nour Abu Mahfouz, Walid Abuhammour, Alan Taylor, Divinlal Harilal, Alia Ibrahim, Basil M Fathalla, Sathishkumar Ramaswamy, Praseetha Kizhakkedath
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 18, Iss, Pp 1020-1027 (2020)
Computational and Structural Biotechnology Journal
Computational and Structural Biotechnology Journal
Clinical exome sequencing (CES) has become a routine diagnostic tool in several pediatric subspecialties, with a reported average diagnostic yield of ~25% in this patient poulation. The utility of CES in the United Arab Emirates (UAE) has not been pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ab37ac61b0bef75b72c9f2cdc64e9a6
https://doi.org/10.1016/j.csbj.2020.04.013
https://doi.org/10.1016/j.csbj.2020.04.013
Autor:
Sandrine Vuillaumier-Barrot, François Fenaille, Soraya Sakhi, Céline Bonnet, Trost Detleft, Sophie Cholet, Samer Wehbi, Bruno Leheup, Emmanuelle Schmitt, Benjamin Cogné, François Feillet, Bertrand Isidor, Christine Muti, Arnaud Bruneel, Thierry Dupré
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 28, Iss, Pp 100775-(2021)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Congenital disorders of glycosylation (CDG) constitute an ever-growing group of genetic diseases affecting the glycosylation of proteins. CDG individuals usually present with severe multisystem disorders. MAN1B1-CDG is a CDG with nonspecific clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c915afa6553516907da4cb2450d975b
https://doi.org/10.1016/j.ymgmr.2021.100775
https://doi.org/10.1016/j.ymgmr.2021.100775
Autor:
Sakhi S; AP-HP, Biochimie Métabolique et Cellulaire, Hôpital Bichat-Claude Bernard, Paris, France., Cholet S; Université Paris-Saclay, CEA, INRAE, Département Médicaments et Technologies pour la Santé (DMTS), MetaboHUB, F-91191 Gif sur Yvette, France., Wehbi S; Service de Pédiatrie, Centre hospitalier de Versailles, Le Chesnay, France., Isidor B; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 44093 Nantes, France.; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Cogne B; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 44093 Nantes, France.; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Vuillaumier-Barrot S; AP-HP, Biochimie Métabolique et Cellulaire, Hôpital Bichat-Claude Bernard, Paris, France., Dupré T; AP-HP, Biochimie Métabolique et Cellulaire, Hôpital Bichat-Claude Bernard, Paris, France., Detleft T; Laboratoire CERBA, 95310 Saint-Ouen l'Aumone, France., Schmitt E; Service de Neuroradiologie Diagnostique et Thérapeutique, Centre Hospitalier Universitaire de Nancy, Nancy, France., Leheup B; Centre de Référence Syndromes Malformatifs et Anomalies du Développement - Service de Génétique Clinique, Centre Hospitalier Universitaire de Nancy, F-54000 Nancy, France., Bonnet C; Laboratoire de Génétique, Centre Hospitalier Universitaire de Nancy, F-54000 Nancy, France., Feillet F; Reference Center for Inborn Errors of Metabolism, University Hospital of Nancy, F-54000 Nancy, France., Muti C; Unité de Génétique Constitutionnelle, Service de Biologie, Centre Hospitalier de Versailles, Le Chesnay, France., Fenaille F; Université Paris-Saclay, CEA, INRAE, Département Médicaments et Technologies pour la Santé (DMTS), MetaboHUB, F-91191 Gif sur Yvette, France., Bruneel A; AP-HP, Biochimie Métabolique et Cellulaire, Hôpital Bichat-Claude Bernard, Paris, France.; INSERM UMR1193, Mécanismes cellulaires et moléculaires de l'adaptation au stress et cancérogenèse, Université Paris-Sud, Châtenay-Malabry, France.
Publikováno v:
Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2021 Jun 02; Vol. 28, pp. 100775. Date of Electronic Publication: 2021 Jun 02 (Print Publication: 2021).
Autor:
Mahfouz NA; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates., Kizhakkedath P; Genomics Center, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Ibrahim A; Royal College of Surgeons in Ireland, Ireland., El Naofal M; Genomics Center, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Ramaswamy S; Genomics Center, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Harilal D; Genomics Center, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Qutub Y; Genomics Center, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Uddin M; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates., Taylor A; Genomics Center, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Alloub Z; Neurodevelopment Department, Ireland., AlBanna A; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.; Mental Health Center, Ireland., Abuhammour W; Infection Control Department, Ireland., Fathalla B; Rheumatology Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Tayoun AA; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.; Genomics Center, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.
Publikováno v:
Computational and structural biotechnology journal [Comput Struct Biotechnol J] 2020 Apr 22; Vol. 18, pp. 1020-1027. Date of Electronic Publication: 2020 Apr 22 (Print Publication: 2020).