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Dirk Klee

Showing results (41-50 of 49) with videos related to

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Leukemia & Lymphoma|May 3, 2018
Osteonecrosis in children with acute lymphoblastic leukemia at initial diagnosis and prior to any chemotherapyKathinka Krull, Marina Kunstreich, Annika Bronsema, et al.
Journal of Inherited Metabolic Disease|March 3, 2020
Cardiometabolic risk factor clustering in patients with deficient branched-chain amino acid catabolism: A case-control studySofiya Gancheva, Daria Caspari, Alessandra Bierwagen, et al.
Brain : a Journal of Neurology|December 20, 2019
Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegenerationChristina R Fagerberg, Adrian Taylor, Felix Distelmaier, et al.
American Journal of Human Genetics|September 13, 2016
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early ChildhoodLaura S Kremer, Katharina Danhauser, Diran Herebian, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|July 27, 2019
Biallelic mutation of human <i>SLC6A6</i> encoding the taurine transporter TAUT is linked to early retinal degenerationMarkus N Preising, Boris Görg, Christoph Friedburg, et al.
American Journal of Human Genetics|February 1, 2020
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding AbnormalitiesMatias Wagner, Yuliya Skorobogatko, Ben Pode-Shakked, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2023
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhoodMargot R F Reijnders, Annette Seibt, Melanie Brugger, et al.
Brain : a Journal of Neurology|February 22, 2024
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformationsLucia Laugwitz, Fubo Cheng, Stephan C Collins, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 11, 2020
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorderTheresa Brunet, Kirsty McWalter, Katharina Mayerhanser, et al.
Pageof 5

Showing results (41-50 of 49) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 49 results.
Leukemia & Lymphoma|May 3, 2018
Osteonecrosis in children with acute lymphoblastic leukemia at initial diagnosis and prior to any chemotherapyKathinka Krull, Marina Kunstreich, Annika Bronsema, et al.
Journal of Inherited Metabolic Disease|March 3, 2020
Cardiometabolic risk factor clustering in patients with deficient branched-chain amino acid catabolism: A case-control studySofiya Gancheva, Daria Caspari, Alessandra Bierwagen, et al.
Brain : a Journal of Neurology|December 20, 2019
Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegenerationChristina R Fagerberg, Adrian Taylor, Felix Distelmaier, et al.
American Journal of Human Genetics|September 13, 2016
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early ChildhoodLaura S Kremer, Katharina Danhauser, Diran Herebian, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|July 27, 2019
Biallelic mutation of human <i>SLC6A6</i> encoding the taurine transporter TAUT is linked to early retinal degenerationMarkus N Preising, Boris Görg, Christoph Friedburg, et al.
American Journal of Human Genetics|February 1, 2020
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding AbnormalitiesMatias Wagner, Yuliya Skorobogatko, Ben Pode-Shakked, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2023
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhoodMargot R F Reijnders, Annette Seibt, Melanie Brugger, et al.
Brain : a Journal of Neurology|February 22, 2024
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformationsLucia Laugwitz, Fubo Cheng, Stephan C Collins, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 11, 2020
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorderTheresa Brunet, Kirsty McWalter, Katharina Mayerhanser, et al.
Pageof 5