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At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years.
Guatibonza Moreno, Pilar; Pardo, Luba M; Pereira, Catarina; Schroeder, Sabine; Vagiri, Deepthi; Almeida, Ligia S; Juaristi, Carlos; Hosny, Heba; Loh, Clarice C Y; Leubauer, Anika; Torres Morales, Galina; Oppermann, Sebastian; Iurașcu, Marius-Ionuț; Fischer, Steffen; Steinicke, Tara-Marisa; Viceconte, Nikenza; Cozma, Claudia; Kandaswamy, Krishna Kumar; Pinto Basto, Jorge; Böttcher, Tobias; Bauer, Peter; Bertoli-Avella, Aida.
Afiliação
  • Guatibonza Moreno P; CENTOGENE GmbH, Rostock, Germany.
  • Pardo LM; CENTOGENE GmbH, Rostock, Germany.
  • Pereira C; CENTOGENE GmbH, Rostock, Germany.
  • Schroeder S; CENTOGENE GmbH, Rostock, Germany.
  • Vagiri D; CENTOGENE GmbH, Rostock, Germany.
  • Almeida LS; CENTOGENE GmbH, Rostock, Germany.
  • Juaristi C; CENTOGENE GmbH, Rostock, Germany.
  • Hosny H; CENTOGENE GmbH, Rostock, Germany.
  • Loh CCY; CENTOGENE GmbH, Rostock, Germany.
  • Leubauer A; CENTOGENE GmbH, Rostock, Germany.
  • Torres Morales G; CENTOGENE GmbH, Rostock, Germany.
  • Oppermann S; CENTOGENE GmbH, Rostock, Germany.
  • Iurașcu MI; CENTOGENE GmbH, Rostock, Germany.
  • Fischer S; CENTOGENE GmbH, Rostock, Germany.
  • Steinicke TM; CENTOGENE GmbH, Rostock, Germany.
  • Viceconte N; CENTOGENE GmbH, Rostock, Germany.
  • Cozma C; CENTOGENE GmbH, Rostock, Germany.
  • Kandaswamy KK; CENTOGENE GmbH, Rostock, Germany.
  • Pinto Basto J; CENTOGENE GmbH, Rostock, Germany.
  • Böttcher T; CENTOGENE GmbH, Rostock, Germany.
  • Bauer P; CENTOGENE GmbH, Rostock, Germany. Peter.Bauer@centogene.com.
  • Bertoli-Avella A; Univesrity of Rostock, Rostock, Germany. Peter.Bauer@centogene.com.
Eur J Hum Genet ; 31(10): 1108-1116, 2023 10.
Article em En | MEDLINE | ID: mdl-37433892
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Humans / Infant / Middle aged / Newborn Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Humans / Infant / Middle aged / Newborn Idioma: En Ano de publicação: 2023 Tipo de documento: Article