Publications by authors named "Natalie B Tan"

8Publications

Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.

Am J Hum Genet 2020 04 19;106(4):559-569. Epub 2020 Mar 19.

Murdoch Children's Research Institute, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Parkville, Victoria 3052, Australia; Victorian Clinical Genetics Services, Parkville, Victoria 3052, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.02.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118692PMC
April 2020

Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit.

J Paediatr Child Health 2019 Nov 12;55(11):1309-1314. Epub 2019 Feb 12.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/jpc.14398DOI Listing
November 2019

Insights into the genotype-phenotype correlation and molecular function of SLC25A46.

Hum Mutat 2018 12 17;39(12):1995-2007. Epub 2018 Sep 17.

John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA.

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http://dx.doi.org/10.1002/humu.23639DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240357PMC
December 2018

Primary Intestinal Lymphangiectasia as a First Manifestation of Tuberous Sclerosis Complex.

J Pediatr Gastroenterol Nutr 2017 10;65(4):e96

*Victorian Clinical Genetics Services, Murdoch Children's Research Institute †The Royal Children's Hospital, Parkville Victoria ‡Department of Paediatrics, Monash University, Clayton, Victoria Australia.

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http://dx.doi.org/10.1097/MPG.0000000000001660DOI Listing
October 2017