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Developmental Medicine and Child Neurology
|
October 12, 2013
What constitutes cerebral palsy in the twenty-first century?
Hayley Smithers-Sheedy, Nadia Badawi, Eve Blair, et al.
Mitochondrion
|
August 17, 2010
Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome
Alison G Compton, Christopher Troedson, Meredith Wilson, et al.
Journal of Paediatrics and Child Health
|
April 1, 2011
An Australian tuberous sclerosis cohort: are surveillance guidelines being met?
Maya Chopra, John A Lawson, Meredith Wilson, et al.
Journal of Paediatrics and Child Health
|
April 7, 2010
The natural history and osteodystrophy of mucolipidosis types II and III
Grace David-Vizcarra, Julie Briody, Jenny Ault, et al.
NPJ Genomic Medicine
|
January 29, 2021
Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level
Stephanie Best, Helen Brown, Sebastian Lunke, et al.
European Journal of Human Genetics : EJHG
|
February 23, 2012
Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations
Michael Field, Ingrid E Scheffer, Deepak Gill, et al.
Clinical & Experimental Ophthalmology
|
July 26, 2014
Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients
Ivan Prokudin, Dong Li, Sijie He, et al.
European Journal of Human Genetics : EJHG
|
August 9, 2012
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy
Stephanie Fehr, Meredith Wilson, Jenny Downs, et al.
Human Mutation
|
June 23, 2015
KIAA0586 is Mutated in Joubert Syndrome
Ruxandra Bachmann-Gagescu, Ian G Phelps, Jennifer C Dempsey, et al.
American Journal of Medical Genetics. Part A
|
April 28, 2017
KBG syndrome: An Australian experience
Natalia Murray, Bronwyn Burgess, Robin Hay, et al.
Page
of 7
Search research articles
Search
Showing results (21-30 of 68) with videos related to
Sort By:
Page
of 7
Developmental Medicine and Child Neurology
|
October 12, 2013
What constitutes cerebral palsy in the twenty-first century?
Hayley Smithers-Sheedy, Nadia Badawi, Eve Blair, et al.
Mitochondrion
|
August 17, 2010
Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome
Alison G Compton, Christopher Troedson, Meredith Wilson, et al.
Journal of Paediatrics and Child Health
|
April 1, 2011
An Australian tuberous sclerosis cohort: are surveillance guidelines being met?
Maya Chopra, John A Lawson, Meredith Wilson, et al.
Journal of Paediatrics and Child Health
|
April 7, 2010
The natural history and osteodystrophy of mucolipidosis types II and III
Grace David-Vizcarra, Julie Briody, Jenny Ault, et al.
NPJ Genomic Medicine
|
January 29, 2021
Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level
Stephanie Best, Helen Brown, Sebastian Lunke, et al.
European Journal of Human Genetics : EJHG
|
February 23, 2012
Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations
Michael Field, Ingrid E Scheffer, Deepak Gill, et al.
Clinical & Experimental Ophthalmology
|
July 26, 2014
Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients
Ivan Prokudin, Dong Li, Sijie He, et al.
European Journal of Human Genetics : EJHG
|
August 9, 2012
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy
Stephanie Fehr, Meredith Wilson, Jenny Downs, et al.
Human Mutation
|
June 23, 2015
KIAA0586 is Mutated in Joubert Syndrome
Ruxandra Bachmann-Gagescu, Ian G Phelps, Jennifer C Dempsey, et al.
American Journal of Medical Genetics. Part A
|
April 28, 2017
KBG syndrome: An Australian experience
Natalia Murray, Bronwyn Burgess, Robin Hay, et al.
Page
of 7