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Sanquer

Showing results (71-80 of 80) with videos related to

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Nature|May 30, 2014
CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferationEmmanuel Martin, Noé Palmic, Sylvia Sanquer, et al.
Blood|March 10, 2021
The equilibrative nucleoside transporter ENT1 is critical for nucleotide homeostasis and optimal erythropoiesisMahmoud Mikdar, Pedro González-Menéndez, Xiaoli Cai, et al.
JCI Insight|March 13, 2020
Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutationEmmanuel Martin, Norbert Minet, Anne-Claire Boschat, et al.
European Journal of Medical Genetics|August 12, 2020
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature reviewOriane Mercati, Marie-Thérèse Abi Warde, Geneviève Lina-Granade, et al.
Movement Disorders Clinical Practice|May 19, 2023
Intraputaminal Gene Delivery in Two Patients with Aromatic L-Amino Acid Decarboxylase DeficiencyMarie-Céline François-Heude, Gaetan Poulen, Emmanuel Flamand Roze, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 2, 2026
Gene Therapy for Amino Acid Decarboxylase Deficiency: Clinical and Imaging Outcomes in a French CohortClément Dunoyer, Gaëtan Poulen, Marie-Céline François-Heude, et al.
Nature Communications|September 5, 2019
Defects in t<sup>6</sup>A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndromeChristelle Arrondel, Sophia Missoury, Rozemarijn Snoek, et al.
Journal of Clinical Immunology|May 12, 2023
JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach StudyMarie-Louise Frémond, Marie Hully, Benjamin Fournier, et al.
The Lancet. Neurology|February 22, 2025
Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case seriesGaofeng Zhu, Blaise Didry-Barca, Luis Seabra, et al.
Nature Genetics|August 15, 2017
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephalyDaniela A Braun, Jia Rao, Geraldine Mollet, et al.
Pageof 8

Showing results (71-80 of 80) with videos related to

Sort By:
Pageof 8
You have reached the last page of results.This site can display upto 80 results.
Nature|May 30, 2014
CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferationEmmanuel Martin, Noé Palmic, Sylvia Sanquer, et al.
Blood|March 10, 2021
The equilibrative nucleoside transporter ENT1 is critical for nucleotide homeostasis and optimal erythropoiesisMahmoud Mikdar, Pedro González-Menéndez, Xiaoli Cai, et al.
JCI Insight|March 13, 2020
Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutationEmmanuel Martin, Norbert Minet, Anne-Claire Boschat, et al.
European Journal of Medical Genetics|August 12, 2020
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature reviewOriane Mercati, Marie-Thérèse Abi Warde, Geneviève Lina-Granade, et al.
Movement Disorders Clinical Practice|May 19, 2023
Intraputaminal Gene Delivery in Two Patients with Aromatic L-Amino Acid Decarboxylase DeficiencyMarie-Céline François-Heude, Gaetan Poulen, Emmanuel Flamand Roze, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 2, 2026
Gene Therapy for Amino Acid Decarboxylase Deficiency: Clinical and Imaging Outcomes in a French CohortClément Dunoyer, Gaëtan Poulen, Marie-Céline François-Heude, et al.
Nature Communications|September 5, 2019
Defects in t<sup>6</sup>A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndromeChristelle Arrondel, Sophia Missoury, Rozemarijn Snoek, et al.
Journal of Clinical Immunology|May 12, 2023
JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach StudyMarie-Louise Frémond, Marie Hully, Benjamin Fournier, et al.
The Lancet. Neurology|February 22, 2025
Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case seriesGaofeng Zhu, Blaise Didry-Barca, Luis Seabra, et al.
Nature Genetics|August 15, 2017
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephalyDaniela A Braun, Jia Rao, Geraldine Mollet, et al.
Pageof 8