Publications by authors named "Robin Forbes"

15Publications

Communication about spinal muscular atrophy and genetic risk within families: An Australian pilot study.

J Paediatr Child Health 2020 Aug 29;56(8):1263-1269. Epub 2020 May 29.

Genetics Education and Health Research, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/jpc.14915DOI Listing
August 2020

False Negative Carrier Screening in Spinal Muscular Atrophy.

J Child Neurol 2020 Mar 20;35(4):274-277. Epub 2019 Dec 20.

Victorian Clinical Genetics Services, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1177/0883073819891269DOI Listing
March 2020

Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles.

Genes (Basel) 2019 04 5;10(4). Epub 2019 Apr 5.

Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.

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http://dx.doi.org/10.3390/genes10040279DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6523498PMC
April 2019

Nusinersen for SMA: expanded access programme.

J Neurol Neurosurg Psychiatry 2018 09 16;89(9):937-942. Epub 2018 Mar 16.

Department of Neurology, The Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1136/jnnp-2017-317412DOI Listing
September 2018

'A short time but a lovely little short time': Bereaved parents' experiences of having a child with spinal muscular atrophy type 1.

J Paediatr Child Health 2016 Jan 10;52(1):40-6. Epub 2015 Sep 10.

Victorian Clinical Genetics Services, The Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/jpc.12993DOI Listing
January 2016

X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene.

J Child Neurol 2015 Aug 22;30(9):1211-7. Epub 2014 Sep 22.

Faculty of Medicine, Nursing and Health Sciences, Monash University, Victoria, Australia Department of Anatomical Pathology, The Alfred Hospital, Victoria, Australia.

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http://dx.doi.org/10.1177/0883073814549807DOI Listing
August 2015

5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases.

Am J Med Genet A 2013 Oct 15;161A(10):2604-8. Epub 2013 Aug 15.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Australia; University of Melbourne, Parkville, Australia.

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http://dx.doi.org/10.1002/ajmg.a.36108DOI Listing
October 2013

Consumer contribution to the delivery of genetic health services.

Am J Med Genet A 2008 Sep;146A(17):2266-74

Department of Paediatrics, Genetics Education and Health Research, Murdoch Childrens Research Institute, The University of Melbourne, Parkville, Australia.

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http://dx.doi.org/10.1002/ajmg.a.32271DOI Listing
September 2008

Community-wide screening for cystic fibrosis carriers could replace newborn screening for the diagnosis of cystic fibrosis.

J Paediatr Child Health 2007 Nov;43(11):721-3

Department of Respiratory Medicine, Royal Children's Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1111/j.1440-1754.2007.01224.xDOI Listing
November 2007

Resolution of fibrinolysis.

J Cardiothorac Vasc Anesth 2002 Dec;16(6):791-2

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http://dx.doi.org/10.1016/s1053-0770(02)70005-0DOI Listing
December 2002