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A novel leaky splice variant in centromere protein J (CENPJ)-associated Seckel syndrome.
Yadav, Navneesh; Kirola, Laxmi; Geetha, Thenral S; Mittal, Kirti; Kadandale, Jayarama; Yogev, Yuval; Birk, Ohad S; Gupta, Neerja; Balakrishnan, Prahlad; Jana, Manisha; Gupta, Meena; Kabra, Madhulika; Thelma, Bittianda Kuttapa.
Affiliation
  • Yadav N; Department of Genetics, University of Delhi South Campus, New Delhi, India.
  • Kirola L; Department of Genetics, University of Delhi South Campus, New Delhi, India.
  • Geetha TS; Department of Molecular and Human Genetics, Banaras Hindu University, Uttar Pradesh, India.
  • Mittal K; Department of Genetics, University of Delhi South Campus, New Delhi, India.
  • Kadandale J; Medgenome, Labs, Bangalore, India.
  • Yogev Y; Department of Genetics, University of Delhi South Campus, New Delhi, India.
  • Birk OS; Lunenfeld-Tanenbaum, Research Institute, Toronto, Canada.
  • Gupta N; Center for Human Genetics, Bengaluru, Karnataka, India.
  • Balakrishnan P; The Morris Kahn Laboratory of Human Genetics, Ben-Gurion University of the Negev, Beer Sheva, Israel.
  • Jana M; The Morris Kahn Laboratory of Human Genetics, Ben-Gurion University of the Negev, Beer Sheva, Israel.
  • Gupta M; Division of Genetics, Department of Paediatrics, All India Institute of Medical Sciences, New Delhi, India.
  • Kabra M; Division of Genetics, Department of Paediatrics, All India Institute of Medical Sciences, New Delhi, India.
  • Thelma BK; Genes2me, Haryana, India.
Ann Hum Genet ; 86(5): 245-256, 2022 09.
Article in En | MEDLINE | ID: mdl-35451063
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Full text: 1 Database: MEDLINE Main subject: Dwarfism / Microcephaly Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans / Male Language: En Year: 2022 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Dwarfism / Microcephaly Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans / Male Language: En Year: 2022 Type: Article