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Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome.
Ali Alghamdi, Malak; Benabdelkamel, Hicham; Masood, Afshan; Saheb Sharif-Askari, Narjes; Hachim, Mahmood Y; Alsheikh, Hamad; Hamad, Muddathir H; Salih, Mustafa A; Bashiri, Fahad A; Alhasan, Khalid; Kashour, Tarek; Guatibonza Moreno, Pilar; Schröder, Sabine; Karageorgou, Vasiliki; Bertoli-Avella, Aida M; Alkhalidi, Hisham; Jamjoom, Dima Z; Alorainy, Ibrahim A; Alfadda, Assim A; Halwani, Rabih.
Afiliação
  • Ali Alghamdi M; Pediatric Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Benabdelkamel H; Medical Genetics Division, Department of Pediatrics, King Saud University, Riyadh, Saudi Arabia.
  • Masood A; Proteomics Resource Unit, Obesity Research Center, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Saheb Sharif-Askari N; Proteomics Resource Unit, Obesity Research Center, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Hachim MY; Sharjah Institute for Medical Research, University of Sharjah, Dubai, United Arab Emirates.
  • Alsheikh H; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.
  • Hamad MH; Neurology Division, Department of Pediatrics, King Saud University, Riyadh, Saudi Arabia.
  • Salih MA; Neurology Division, Department of Pediatrics, King Saud University, Riyadh, Saudi Arabia.
  • Bashiri FA; Pediatric Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Alhasan K; Pediatric Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Kashour T; Neurology Division, Department of Pediatrics, King Saud University, Riyadh, Saudi Arabia.
  • Guatibonza Moreno P; Pediatric Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Schröder S; Nephology Division, Department of Pediatrics, King Saud University, Riyadh, Saudi Arabia.
  • Karageorgou V; Pediatric Kidney Transplant Division,Organ Transplant Center, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
  • Bertoli-Avella AM; Cardiology Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Alkhalidi H; CENTOGENE GmbH, Rostock, Germany.
  • Jamjoom DZ; CENTOGENE GmbH, Rostock, Germany.
  • Alorainy IA; CENTOGENE GmbH, Rostock, Germany.
  • Alfadda AA; CENTOGENE GmbH, Rostock, Germany.
  • Halwani R; Pathology Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Front Genet ; 13: 806190, 2022.
Article em En | MEDLINE | ID: mdl-35812735

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article