2022 Genetics

Ms HANNAH FABROS1,2, DR. STEPHEN ALEXANDER1,2, DR. HUGH MCCARTHY1,2 1The Children’s Hospital at Westmead, Sydney, Australia, 2The University of Sydney, Sydney, Australia Background: 20% of Childhood Nephrotic Syndrome is resistant to steroid therapy (SRNS) and of these, 50% will develop...
  • 27 July 2022
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Miss EMILY RONNING1,2, Dr YUAN M WANG1,2, Miss HOPE TANUDISASTRO1,2, Dr AMALI MALLAWAARACHCHI3,4, Dr GLADYS  HO1,2, Associate Professor BRUCE  BENNETTS1,2, Associate Professor ANNE DURKAN1,2, Dr HUGH MCCARTHY1,2, Professor STEPHEN I ALEXANDER1,2, Lynn Pais5 1The Children’s Hospital at Westmead, Sydney, Australia,...
  • 27 July 2022
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Maurice Stanley1,2, Dr VICKI ATHANASOPOULOS1,2, Ms SOMASUNDHARI SHANMUGANANDAM1,2, Dr TOM LEA-HENRY1,2, Ms AYLA MAY LORENZO1,2, Ms JEAN CAPPELLO1,2, Ms AMELIA COOK1, Dr CAROLA G. VINUESA1,2,4,5, Dr GILES D. WALTERS3, Dr SIMON JIANG1,2,3,4 1John Curtin School of Medical Research, Australian National...
  • 26 July 2022
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MISS HOPE TANUDISASTRO1,2,3, DR YUAN MIN WANG1,2, DR  DANIEL MACARTHUR3, DR AMALI MALLAWAARACHCHI3,4, DR HUGH MCCARTHY1,2, PROF SI ALEXANDER1,2 1The Children’s Hospital at Westmead, Westmead, Australia, 2The University of Sydney, Camperdown, Australia, 3Garvan Institute of Medical Research, Darlinghurst, Australia, 4Royal...
  • 26 July 2022
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Dr Sayanthooran Saravanabavan1,2, Ms Alexandra Munt1,2, Dr. Sunil Badve3, Prof. Neil Boudville4, Ms Helen Coolican5, Dr. Susan Coulshed6, Ms. Sheryl Foster7,8, Dr. Mangalee Fernando9, Dr. Imad Haloob10, Prof. David Harris1,2, Prof. Carmel Hawley11,12, Dr. Jane Holt13, Dr. Martin Howell14, Dr....
  • 25 July 2022
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Ms. Sneha Amin1, Ms. Irene  Sangadi1,2, Dr Sayanthooran Saravanabavan1,2, Ms. Alexandra Munt1,2, Prof. Margaret Allman-Farinelli3, Dr.  Sunil Badve4, Dr.  Neil  Boudville5, Ms Helen Coolican6, Dr. Susan Coulshed7, Ms. Sheryl Foster8, Dr. Mangalee Fernando9, Dr. Imad Haloob10, Prof. David Harris1,2, Prof....
  • 25 July 2022
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Dr Laura Cuthbertson1, MICHAEL,  MILLWARD2, Dr  MATTHEW WALLIS2, Prof MATTHEW JOSE1 1Royal Hobart Hospital, Hobart , Australia , 2Tasmanian Clinical Genetics Service, Hobart, Australia Aim: To determine prevalence of Birt-Hogg-Dube syndrome (BHD) in Tasmania, characterise pathogenic variants identified in the...
  • 25 July 2022
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Dr VICKI ATHANASOPOULOS1, Ms JEAN  CAPPELLO1, Dr  TOM LEA-HENRY1, Ms BRIDIE MOY1, Dr  SIMON H JIANG1,2 1John Curtin School Medical Research, Australian National University, Acton, Australia, 2The Canberra Hospital, Garran, Australia Aim: To develop a high-throughput platform to map the...
  • 19 July 2022
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