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Showing results (801-810 of 884) with videos related to

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Human Mutation|May 22, 2018
Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-functionLyse Ruaud, Gillian I Rice, Christelle Cabrol, et al.
Human Molecular Genetics|March 21, 1998
Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic depositsH M Mitchison, S L Hofmann, C H Becerra, et al.
Human Mutation|January 30, 2009
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosisChiara Aiello, Alessandra Terracciano, Alessandro Simonati, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|June 13, 2017
Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's ArthropathyLuciana Martins de Carvalho, Gonza Ngoumou, Ji Woo Park, et al.
Human Mutation|April 18, 2013
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndromeGillian I Rice, Martin A M Reijns, Stephanie R Coffin, et al.
American Journal of Human Genetics|February 12, 2011
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiencySiddharth Banka, Henk J Blom, John Walter, et al.
Journal of Clinical Immunology|December 12, 2017
International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of ImmunityCapucine Picard, H Bobby Gaspar, Waleed Al-Herz, et al.
Neuropediatrics|January 11, 2014
Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plusJohn H Livingston, Josephine Mayer, Emma Jenkinson, et al.
Journal of Clinical Immunology|March 23, 2022
Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ InvolvementLeslie Naesens, Josephine Nemegeer, Filip Roelens, et al.
Journal of Medical Genetics|May 24, 2005
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21M Ali, L J Highet, D Lacombe, et al.
Pageof 89

Showing results (801-810 of 884) with videos related to

Sort By:
Pageof 89
Human Mutation|May 22, 2018
Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-functionLyse Ruaud, Gillian I Rice, Christelle Cabrol, et al.
Human Molecular Genetics|March 21, 1998
Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic depositsH M Mitchison, S L Hofmann, C H Becerra, et al.
Human Mutation|January 30, 2009
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosisChiara Aiello, Alessandra Terracciano, Alessandro Simonati, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|June 13, 2017
Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's ArthropathyLuciana Martins de Carvalho, Gonza Ngoumou, Ji Woo Park, et al.
Human Mutation|April 18, 2013
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndromeGillian I Rice, Martin A M Reijns, Stephanie R Coffin, et al.
American Journal of Human Genetics|February 12, 2011
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiencySiddharth Banka, Henk J Blom, John Walter, et al.
Journal of Clinical Immunology|December 12, 2017
International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of ImmunityCapucine Picard, H Bobby Gaspar, Waleed Al-Herz, et al.
Neuropediatrics|January 11, 2014
Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plusJohn H Livingston, Josephine Mayer, Emma Jenkinson, et al.
Journal of Clinical Immunology|March 23, 2022
Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ InvolvementLeslie Naesens, Josephine Nemegeer, Filip Roelens, et al.
Journal of Medical Genetics|May 24, 2005
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21M Ali, L J Highet, D Lacombe, et al.
Pageof 89