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Paediatric Respiratory Reviews
|
April 29, 2018
New and developing therapies in spinal muscular atrophy
Didu Kariyawasam, Kate A Carey, Kristi J Jones, et al.
Journal of Paediatrics and Child Health
|
August 24, 2006
Juvenile Huntington disease
Nimeshan Geevasinga, Fiona H Richards, Kristi J Jones, et al.
Journal of Paediatrics and Child Health
|
February 19, 2010
Chronic urticaria of neonatal onset: a potential sign of autoinflammation
Sam Mehr, Kristi J Jones, Davinder Singh-Grewal, et al.
Neuromuscular Disorders : NMD
|
June 1, 2007
Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families
Rachel A Peat, Naomi L Baker, Kristi J Jones, et al.
The Lancet Regional Health. Western Pacific
|
March 28, 2024
Newborn screening for Duchenne muscular dystrophy: the perspectives of stakeholders
Charli Ji, Didu S Kariyawasam, Hugo Sampaio, et al.
Genes
|
July 29, 2023
The Carrier Frequency of Two <i>SMN1</i> Genes in Parents of Symptomatic Children with SMA and the Significance of <i>SMN1</i> Exon 8 in Carriers
Joanne E Davidson, Jacqueline S Russell, Noelia Nunez Martinez, et al.
Journal of Paediatrics and Child Health
|
February 3, 2025
Navigating an Uninformative Genomic Test Result: A Practical Guide
Laura St Clair, Claire Wong, Christopher Elliot, et al.
Journal of Genetic Counseling
|
November 26, 2024
Reproductive decision-making experiences of Australian adults with neurofibromatosis type 1 and schwannomatosis
Tina Gonzalez, Alison McLean, Jane Fleming, et al.
American Journal of Human Genetics
|
November 26, 2008
Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy
Alison G Compton, Douglas E Albrecht, Jane T Seto, et al.
Neuromuscular Disorders : NMD
|
August 10, 2022
A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centre
Wui-Kwan Wong, Samantha J Bryen, Adam Bournazos, et al.
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of 5
Search research articles
Search
Showing results (1-10 of 47) with videos related to
Sort By:
Page
of 5
Paediatric Respiratory Reviews
|
April 29, 2018
New and developing therapies in spinal muscular atrophy
Didu Kariyawasam, Kate A Carey, Kristi J Jones, et al.
Journal of Paediatrics and Child Health
|
August 24, 2006
Juvenile Huntington disease
Nimeshan Geevasinga, Fiona H Richards, Kristi J Jones, et al.
Journal of Paediatrics and Child Health
|
February 19, 2010
Chronic urticaria of neonatal onset: a potential sign of autoinflammation
Sam Mehr, Kristi J Jones, Davinder Singh-Grewal, et al.
Neuromuscular Disorders : NMD
|
June 1, 2007
Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families
Rachel A Peat, Naomi L Baker, Kristi J Jones, et al.
The Lancet Regional Health. Western Pacific
|
March 28, 2024
Newborn screening for Duchenne muscular dystrophy: the perspectives of stakeholders
Charli Ji, Didu S Kariyawasam, Hugo Sampaio, et al.
Genes
|
July 29, 2023
The Carrier Frequency of Two <i>SMN1</i> Genes in Parents of Symptomatic Children with SMA and the Significance of <i>SMN1</i> Exon 8 in Carriers
Joanne E Davidson, Jacqueline S Russell, Noelia Nunez Martinez, et al.
Journal of Paediatrics and Child Health
|
February 3, 2025
Navigating an Uninformative Genomic Test Result: A Practical Guide
Laura St Clair, Claire Wong, Christopher Elliot, et al.
Journal of Genetic Counseling
|
November 26, 2024
Reproductive decision-making experiences of Australian adults with neurofibromatosis type 1 and schwannomatosis
Tina Gonzalez, Alison McLean, Jane Fleming, et al.
American Journal of Human Genetics
|
November 26, 2008
Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy
Alison G Compton, Douglas E Albrecht, Jane T Seto, et al.
Neuromuscular Disorders : NMD
|
August 10, 2022
A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centre
Wui-Kwan Wong, Samantha J Bryen, Adam Bournazos, et al.
Page
of 5