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Susan Blaser

Showing results (151-160 of 178) with videos related to

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Annals of Neurology|January 31, 2003
A new leukoencephalopathy with brainstem and spinal cord involvement and high lactateMarjo S van der Knaap, Patrick van der Voorn, Frederik Barkhof, et al.
European Journal of Human Genetics : EJHG|June 26, 2014
Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disordersAlmundher Al-Maawali, Lucie Dupuis, Susan Blaser, et al.
American Journal of Medical Genetics. Part A|May 15, 2012
Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 geneRoberto Mendoza-Londono, David Chitayat, Walter H A Kahr, et al.
American Journal of Medical Genetics. Part A|May 17, 2007
The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritanceDavid Chitayat, Hana Sroka, Sarah Keating, et al.
American Journal of Medical Genetics. Part A|November 27, 2018
Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalitiesLance H Rodan, Kwame Anyane-Yeboa, Karen Chong, et al.
Pediatric Critical Care Medicine : a Journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies|March 21, 2020
Decreased Brain Volumes and Infants With Congenital Heart Disease Undergoing Venoarterial Extracorporeal Membrane OxygenationBrandon K Chao, Nathalie H P Claessens, Jessie Mei Lim, et al.
Annals of Clinical and Translational Neurology|September 21, 2016
Interplay of brain structure and function in neonatal congenital heart diseaseAla Birca, Vasily A Vakorin, Prashob Porayette, et al.
Nature Communications|May 20, 2024
Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m<sup>6</sup>A site accessibilityDebjit Khan, Iyappan Ramachandiran, Kommireddy Vasu, et al.
Neurology|August 24, 2012
Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesisTiziana Pisano, A James Barkovich, Richard J Leventer, et al.
Circulation|May 29, 2019
Associations Between Age at Arterial Switch Operation, Brain Growth, and Development in Infants With Transposition of the Great ArteriesJessie Mei Lim, Prashob Porayette, Davide Marini, et al.
Pageof 18

Showing results (151-160 of 178) with videos related to

Sort By:
Pageof 18
Annals of Neurology|January 31, 2003
A new leukoencephalopathy with brainstem and spinal cord involvement and high lactateMarjo S van der Knaap, Patrick van der Voorn, Frederik Barkhof, et al.
European Journal of Human Genetics : EJHG|June 26, 2014
Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disordersAlmundher Al-Maawali, Lucie Dupuis, Susan Blaser, et al.
American Journal of Medical Genetics. Part A|May 15, 2012
Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 geneRoberto Mendoza-Londono, David Chitayat, Walter H A Kahr, et al.
American Journal of Medical Genetics. Part A|May 17, 2007
The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritanceDavid Chitayat, Hana Sroka, Sarah Keating, et al.
American Journal of Medical Genetics. Part A|November 27, 2018
Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalitiesLance H Rodan, Kwame Anyane-Yeboa, Karen Chong, et al.
Pediatric Critical Care Medicine : a Journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies|March 21, 2020
Decreased Brain Volumes and Infants With Congenital Heart Disease Undergoing Venoarterial Extracorporeal Membrane OxygenationBrandon K Chao, Nathalie H P Claessens, Jessie Mei Lim, et al.
Annals of Clinical and Translational Neurology|September 21, 2016
Interplay of brain structure and function in neonatal congenital heart diseaseAla Birca, Vasily A Vakorin, Prashob Porayette, et al.
Nature Communications|May 20, 2024
Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m<sup>6</sup>A site accessibilityDebjit Khan, Iyappan Ramachandiran, Kommireddy Vasu, et al.
Neurology|August 24, 2012
Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesisTiziana Pisano, A James Barkovich, Richard J Leventer, et al.
Circulation|May 29, 2019
Associations Between Age at Arterial Switch Operation, Brain Growth, and Development in Infants With Transposition of the Great ArteriesJessie Mei Lim, Prashob Porayette, Davide Marini, et al.
Pageof 18