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Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract.
Vivante, Asaf; Hwang, Daw-Yang; Kohl, Stefan; Chen, Jing; Shril, Shirlee; Schulz, Julian; van der Ven, Amelie; Daouk, Ghaleb; Soliman, Neveen A; Kumar, Aravind Selvin; Senguttuvan, Prabha; Kehinde, Elijah O; Tasic, Velibor; Hildebrandt, Friedhelm.
Afiliação
  • Vivante A; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Hwang DY; Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel.
  • Kohl S; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Chen J; Division of Nephrology, Department of Medicine, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
  • Shril S; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Schulz J; Department of Pediatrics, Cologne Children's Hospital, Cologne, Germany.
  • van der Ven A; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Daouk G; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Soliman NA; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Kumar AS; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Senguttuvan P; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Kehinde EO; Department of Pediatrics, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt.
  • Tasic V; Egyptian Group for Orphan Renal Diseases, Cairo, Egypt.
  • Hildebrandt F; Pediatric Nephrology Department, Institute of Child Health and Hospital for Children, Chennai, Tamil Nadu, India.
J Am Soc Nephrol ; 28(1): 69-75, 2017 Jan.
Article em En | MEDLINE | ID: mdl-27151922

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Urogenitais / Refluxo Vesicoureteral / Exoma / Mutação Limite: Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Urogenitais / Refluxo Vesicoureteral / Exoma / Mutação Limite: Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article