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Developmental Medicine and Child Neurology
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August 20, 2021
Cerebrospinal fluid neopterin as a biomarker of treatment response to Janus kinase inhibition in Aicardi-Goutières syndrome
Velda X Han, Shekeeb S Mohammad, Hannah F Jones, et al.
Developmental Medicine and Child Neurology
|
August 30, 2008
Aicardi-Goutières syndrome: description of a late onset case
Stefano D'Arrigo, Daria Riva, Sara Bulgheroni, et al.
Pediatric Neurology
|
October 11, 2014
Basal ganglia calcification in a patient with beta-propeller protein-associated neurodegeneration
Gert Van Goethem, John H Livingston, Daniel Warren, et al.
Pediatrics
|
July 29, 2015
Mosaic Tetrasomy 9p: A Mendelian Condition Associated With Pediatric-Onset Overlap Myositis
Marie-Louise Frémond, Cyril Gitiaux, Damien Bonnet, et al.
American Journal of Clinical Pathology
|
March 18, 2011
Degos disease: a C5b-9/interferon-α-mediated endotheliopathy syndrome
Cynthia M Magro, Jonathan C Poe, Connie Kim, et al.
European Journal of Human Genetics : EJHG
|
August 19, 2010
Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3
Siddharth Banka, Elena Chervinsky, William G Newman, et al.
Brain & Development
|
August 27, 2005
Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease
Subrahmanian Dipti, Anne-Marie Childs, John H Livingston, et al.
Human Mutation
|
March 31, 2012
SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations
Adriana Goncalves, Evren Karayel, Gillian I Rice, et al.
Archives of Disease in Childhood
|
July 17, 2012
Diagnosing fetal alcohol syndrome: new insights from newer genetic technologies
Sofia Douzgou, Catherine Breen, Yanick J Crow, et al.
Journal of Human Immunity
|
October 6, 2025
Spondyloenchondrodysplasia: An enigmatic immuno-osseus type I interferonopathy
Callie C Y Wong, Tifenn Wauquier, Carolina Uggenti, et al.
Page
of 24
Search research articles
Search
Showing results (71-80 of 233) with videos related to
Sort By:
Page
of 24
Developmental Medicine and Child Neurology
|
August 20, 2021
Cerebrospinal fluid neopterin as a biomarker of treatment response to Janus kinase inhibition in Aicardi-Goutières syndrome
Velda X Han, Shekeeb S Mohammad, Hannah F Jones, et al.
Developmental Medicine and Child Neurology
|
August 30, 2008
Aicardi-Goutières syndrome: description of a late onset case
Stefano D'Arrigo, Daria Riva, Sara Bulgheroni, et al.
Pediatric Neurology
|
October 11, 2014
Basal ganglia calcification in a patient with beta-propeller protein-associated neurodegeneration
Gert Van Goethem, John H Livingston, Daniel Warren, et al.
Pediatrics
|
July 29, 2015
Mosaic Tetrasomy 9p: A Mendelian Condition Associated With Pediatric-Onset Overlap Myositis
Marie-Louise Frémond, Cyril Gitiaux, Damien Bonnet, et al.
American Journal of Clinical Pathology
|
March 18, 2011
Degos disease: a C5b-9/interferon-α-mediated endotheliopathy syndrome
Cynthia M Magro, Jonathan C Poe, Connie Kim, et al.
European Journal of Human Genetics : EJHG
|
August 19, 2010
Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3
Siddharth Banka, Elena Chervinsky, William G Newman, et al.
Brain & Development
|
August 27, 2005
Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease
Subrahmanian Dipti, Anne-Marie Childs, John H Livingston, et al.
Human Mutation
|
March 31, 2012
SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations
Adriana Goncalves, Evren Karayel, Gillian I Rice, et al.
Archives of Disease in Childhood
|
July 17, 2012
Diagnosing fetal alcohol syndrome: new insights from newer genetic technologies
Sofia Douzgou, Catherine Breen, Yanick J Crow, et al.
Journal of Human Immunity
|
October 6, 2025
Spondyloenchondrodysplasia: An enigmatic immuno-osseus type I interferonopathy
Callie C Y Wong, Tifenn Wauquier, Carolina Uggenti, et al.
Page
of 24