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JIMD Reports
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November 18, 2020
Familial <i>DHCR7</i> genotype presenting as a very mild form of Smith-Lemli-Opitz syndrome and lethal holoprosencephaly
Suzanna E L Temple, Rani Sachdev, Carolyn Ellaway
Pediatric Neurology
|
December 26, 2013
Ataxia telangiectasia in a three-year-old-girl
Kathryn Anne Hosking, Harry Leung, Ian Andrews, et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia
|
May 24, 2012
A genetic diagnostic approach to infantile epileptic encephalopathies
Benjamin A Kamien, Michael Cardamone, John A Lawson, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
July 7, 2023
Challenges in seizure control in ATP6V0C deficiency: A longitudinal case report
Arthavan Selvanathan, Rebecca Macintosh, Alexandra Johnson, et al.
Clinical Dysmorphology
|
April 5, 2008
Characterizing the oculoauriculofrontonasal syndrome
Michael T Gabbett, Stephen P Robertson, Roland Broadbent, et al.
Genes
|
June 2, 2021
Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX
Alison Pandelache, David Francis, Ralph Oertel, et al.
Journal of Paediatrics and Child Health
|
December 14, 2011
Australian Paediatric Surveillance Unit study of haemoglobinopathies in Australian children
Elizabeth Argent, Phillip Emder, Paul Monagle, et al.
Genes
|
February 25, 2022
<i>SPECC1L</i> Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome
Chiara Migliore, Anna Vendramin, Shane McKee, et al.
Developmental Medicine and Child Neurology
|
June 5, 2024
Psychosocial experiences of clinicians providing care for children with severe neurological impairment
Suzanne M Nevin, Fleur A Le Marne, Erin Beavis, et al.
Journal of Paediatrics and Child Health
|
September 7, 2022
Hope in the uncertainties and certainty for parents of children with rare neurological disorders. Part I (of 3): Uncertainty
Elizabeth E Palmer, Rani Sachdev, Erin Beavis, et al.
Page
of 6
Search research articles
Search
Showing results (1-10 of 51) with videos related to
Sort By:
Page
of 6
JIMD Reports
|
November 18, 2020
Familial <i>DHCR7</i> genotype presenting as a very mild form of Smith-Lemli-Opitz syndrome and lethal holoprosencephaly
Suzanna E L Temple, Rani Sachdev, Carolyn Ellaway
Pediatric Neurology
|
December 26, 2013
Ataxia telangiectasia in a three-year-old-girl
Kathryn Anne Hosking, Harry Leung, Ian Andrews, et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia
|
May 24, 2012
A genetic diagnostic approach to infantile epileptic encephalopathies
Benjamin A Kamien, Michael Cardamone, John A Lawson, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
July 7, 2023
Challenges in seizure control in ATP6V0C deficiency: A longitudinal case report
Arthavan Selvanathan, Rebecca Macintosh, Alexandra Johnson, et al.
Clinical Dysmorphology
|
April 5, 2008
Characterizing the oculoauriculofrontonasal syndrome
Michael T Gabbett, Stephen P Robertson, Roland Broadbent, et al.
Genes
|
June 2, 2021
Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX
Alison Pandelache, David Francis, Ralph Oertel, et al.
Journal of Paediatrics and Child Health
|
December 14, 2011
Australian Paediatric Surveillance Unit study of haemoglobinopathies in Australian children
Elizabeth Argent, Phillip Emder, Paul Monagle, et al.
Genes
|
February 25, 2022
<i>SPECC1L</i> Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome
Chiara Migliore, Anna Vendramin, Shane McKee, et al.
Developmental Medicine and Child Neurology
|
June 5, 2024
Psychosocial experiences of clinicians providing care for children with severe neurological impairment
Suzanne M Nevin, Fleur A Le Marne, Erin Beavis, et al.
Journal of Paediatrics and Child Health
|
September 7, 2022
Hope in the uncertainties and certainty for parents of children with rare neurological disorders. Part I (of 3): Uncertainty
Elizabeth E Palmer, Rani Sachdev, Erin Beavis, et al.
Page
of 6