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John R Ostergaard

Showing results (31-40 of 41) with videos related to

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The Journal of Molecular Diagnostics : JMD|January 16, 2010
Detecting 22q11.2 deletions by use of multiplex ligation-dependent probe amplification on DNA from neonatal dried blood spot samplesKarina M Sørensen, Peter Agergaard, Charlotte Olesen, et al.
Archives of Neurology|January 11, 2012
Novel hypomyelinating leukoencephalopathy affecting early myelinating structuresMarjan E Steenweg, Nicole I Wolf, Jolanda H Schieving, et al.
Molecular Genetics and Metabolism|March 25, 2017
Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complexLisbeth Birk Møller, Bitten Schönewolf-Greulich, Thomas Rosengren, et al.
Brain : a Journal of Neurology|July 27, 2012
A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutationsPinki Munot, Dawn E Saunders, Dianna M Milewicz, et al.
American Journal of Human Genetics|May 22, 2012
Cantú syndrome is caused by mutations in ABCC9Bregje W M van Bon, Christian Gilissen, Dorothy K Grange, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterationsEllen S Regalado, Lauren Mellor-Crummey, Julie De Backer, et al.
Arxiv|February 24, 2025
<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulationLaura Cif, Diane Demailly, Jean-Pierre Lin, et al.
Brain : a Journal of Neurology|November 5, 2020
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulationLaura Cif, Diane Demailly, Jean-Pierre Lin, et al.
American Journal of Human Genetics|September 12, 2007
Clinical and molecular phenotype of Aicardi-Goutieres syndromeGillian Rice, Teresa Patrick, Rekha Parmar, et al.
The Journal of Clinical Endocrinology and Metabolism|October 2, 2020
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1CFélixe Pelletier, Stefanie Perrier, Ferdy K Cayami, et al.
Pageof 5

Showing results (31-40 of 41) with videos related to

Sort By:
Pageof 5
The Journal of Molecular Diagnostics : JMD|January 16, 2010
Detecting 22q11.2 deletions by use of multiplex ligation-dependent probe amplification on DNA from neonatal dried blood spot samplesKarina M Sørensen, Peter Agergaard, Charlotte Olesen, et al.
Archives of Neurology|January 11, 2012
Novel hypomyelinating leukoencephalopathy affecting early myelinating structuresMarjan E Steenweg, Nicole I Wolf, Jolanda H Schieving, et al.
Molecular Genetics and Metabolism|March 25, 2017
Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complexLisbeth Birk Møller, Bitten Schönewolf-Greulich, Thomas Rosengren, et al.
Brain : a Journal of Neurology|July 27, 2012
A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutationsPinki Munot, Dawn E Saunders, Dianna M Milewicz, et al.
American Journal of Human Genetics|May 22, 2012
Cantú syndrome is caused by mutations in ABCC9Bregje W M van Bon, Christian Gilissen, Dorothy K Grange, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterationsEllen S Regalado, Lauren Mellor-Crummey, Julie De Backer, et al.
Arxiv|February 24, 2025
<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulationLaura Cif, Diane Demailly, Jean-Pierre Lin, et al.
Brain : a Journal of Neurology|November 5, 2020
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulationLaura Cif, Diane Demailly, Jean-Pierre Lin, et al.
American Journal of Human Genetics|September 12, 2007
Clinical and molecular phenotype of Aicardi-Goutieres syndromeGillian Rice, Teresa Patrick, Rekha Parmar, et al.
The Journal of Clinical Endocrinology and Metabolism|October 2, 2020
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1CFélixe Pelletier, Stefanie Perrier, Ferdy K Cayami, et al.
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