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International Journal of Environmental Research and Public Health
|
October 27, 2022
A Participatory Framework for Plain Language Clinical Management Guideline Development
Rita Francisco, Susana Alves, Catarina Gomes, et al.
Journal of Inherited Metabolic Disease
|
March 25, 2011
Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I
Mailys Guillard, Yoshinao Wada, Hana Hansikova, et al.
International Journal of Molecular Sciences
|
March 16, 2017
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica
Ariana Kariminejad, Fariba Afroozan, Bita Bozorgmehr, et al.
Heart Failure Reviews
|
February 14, 2012
From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)
Livia Kapusta, Nili Zucker, George Frenckel, et al.
European Journal of Medical Genetics
|
January 20, 2020
Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures
Anne Slavotinek, Johanna M van Hagen, Louisa Kalsner, et al.
Frontiers in Genetics
|
May 28, 2021
Deep-Phenotyping the Less Severe Spectrum of <i>PIGT</i> Deficiency and Linking the Gene to Myoclonic Atonic Seizures
Allan Bayat, Manuela Pendziwiat, Ewa Obersztyn, et al.
NMR in Biomedicine
|
March 17, 2006
NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism
Udo F H Engelke, Berry Kremer, Leo A J Kluijtmans, et al.
Cell Reports
|
March 2, 2024
Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models
Silvia Radenkovic, Rohit Budhraja, Teun Klein-Gunnewiek, et al.
Translational Research : the Journal of Laboratory and Clinical Medicine
|
July 27, 2018
Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency
Nurulamin Abu Bakar, Nicol C Voermans, Thorsten Marquardt, et al.
Plos One
|
November 21, 2012
Identification of novel translational urinary biomarkers for acetaminophen-induced acute liver injury using proteomic profiling in mice
Rachel P L van Swelm, Coby M M Laarakkers, Ellen C van der Kuur, et al.
Page
of 36
Search research articles
Search
Showing results (241-250 of 355) with videos related to
Sort By:
Page
of 36
International Journal of Environmental Research and Public Health
|
October 27, 2022
A Participatory Framework for Plain Language Clinical Management Guideline Development
Rita Francisco, Susana Alves, Catarina Gomes, et al.
Journal of Inherited Metabolic Disease
|
March 25, 2011
Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I
Mailys Guillard, Yoshinao Wada, Hana Hansikova, et al.
International Journal of Molecular Sciences
|
March 16, 2017
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica
Ariana Kariminejad, Fariba Afroozan, Bita Bozorgmehr, et al.
Heart Failure Reviews
|
February 14, 2012
From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)
Livia Kapusta, Nili Zucker, George Frenckel, et al.
European Journal of Medical Genetics
|
January 20, 2020
Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures
Anne Slavotinek, Johanna M van Hagen, Louisa Kalsner, et al.
Frontiers in Genetics
|
May 28, 2021
Deep-Phenotyping the Less Severe Spectrum of <i>PIGT</i> Deficiency and Linking the Gene to Myoclonic Atonic Seizures
Allan Bayat, Manuela Pendziwiat, Ewa Obersztyn, et al.
NMR in Biomedicine
|
March 17, 2006
NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism
Udo F H Engelke, Berry Kremer, Leo A J Kluijtmans, et al.
Cell Reports
|
March 2, 2024
Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models
Silvia Radenkovic, Rohit Budhraja, Teun Klein-Gunnewiek, et al.
Translational Research : the Journal of Laboratory and Clinical Medicine
|
July 27, 2018
Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency
Nurulamin Abu Bakar, Nicol C Voermans, Thorsten Marquardt, et al.
Plos One
|
November 21, 2012
Identification of novel translational urinary biomarkers for acetaminophen-induced acute liver injury using proteomic profiling in mice
Rachel P L van Swelm, Coby M M Laarakkers, Ellen C van der Kuur, et al.
Page
of 36