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The Journal of Biological Chemistry
|
October 2, 2002
A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency
Aimée Paulussen, Adam Raes, Gert Matthijs, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
June 23, 2021
MAN1B1-CDG: novel patients and novel variant
Cigdem Seher Kasapkara, Asburce Olgac, Mustafa Kilic, et al.
The Journal of Biological Chemistry
|
October 18, 2008
Mammalian phosphomannomutase PMM1 is the brain IMP-sensitive glucose-1,6-bisphosphatase
Maria Veiga-da-Cunha, Wendy Vleugels, Pushpa Maliekal, et al.
Dermatology Practical & Conceptual
|
February 16, 2018
Patient with confirmed LEOPARD syndrome developing multiple melanoma
Caroline Colmant, Deborah Franck, Liliane Marot, et al.
European Journal of Pediatrics
|
January 13, 2005
Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema
Vera Noelle, Matthias Knuepfer, Ferdinand Pulzer, et al.
European Journal of Human Genetics : EJHG
|
February 14, 2023
Experiences of nonpregnant couples after receiving reproductive genetic carrier screening results in Belgium
Eva Van Steijvoort, Hilde Peeters, Hilde Vandecruys, et al.
Journal of Inherited Metabolic Disease
|
August 2, 2017
PMM2-CDG and sensorineural hearing loss
Çiğdem Seher Kasapkara, Zeren Barış, Mustafa Kılıç, et al.
Human Mutation
|
February 24, 2009
Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia
Ana I Vega, Celia Pérez-Cerdá, Lourdes R Desviat, et al.
Glycobiology
|
November 11, 2010
Differential effects of lobe A and lobe B of the Conserved Oligomeric Golgi complex on the stability of {beta}1,4-galactosyltransferase 1 and {alpha}2,6-sialyltransferase 1
Romain Peanne, Dominique Legrand, Sandrine Duvet, et al.
Journal of Inherited Metabolic Disease
|
September 4, 2015
Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG
Per Bengtson, Bobby G Ng, Jaak Jaeken, et al.
Page
of 20
Search research articles
Search
Showing results (61-70 of 199) with videos related to
Sort By:
Page
of 20
The Journal of Biological Chemistry
|
October 2, 2002
A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency
Aimée Paulussen, Adam Raes, Gert Matthijs, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
June 23, 2021
MAN1B1-CDG: novel patients and novel variant
Cigdem Seher Kasapkara, Asburce Olgac, Mustafa Kilic, et al.
The Journal of Biological Chemistry
|
October 18, 2008
Mammalian phosphomannomutase PMM1 is the brain IMP-sensitive glucose-1,6-bisphosphatase
Maria Veiga-da-Cunha, Wendy Vleugels, Pushpa Maliekal, et al.
Dermatology Practical & Conceptual
|
February 16, 2018
Patient with confirmed LEOPARD syndrome developing multiple melanoma
Caroline Colmant, Deborah Franck, Liliane Marot, et al.
European Journal of Pediatrics
|
January 13, 2005
Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema
Vera Noelle, Matthias Knuepfer, Ferdinand Pulzer, et al.
European Journal of Human Genetics : EJHG
|
February 14, 2023
Experiences of nonpregnant couples after receiving reproductive genetic carrier screening results in Belgium
Eva Van Steijvoort, Hilde Peeters, Hilde Vandecruys, et al.
Journal of Inherited Metabolic Disease
|
August 2, 2017
PMM2-CDG and sensorineural hearing loss
Çiğdem Seher Kasapkara, Zeren Barış, Mustafa Kılıç, et al.
Human Mutation
|
February 24, 2009
Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia
Ana I Vega, Celia Pérez-Cerdá, Lourdes R Desviat, et al.
Glycobiology
|
November 11, 2010
Differential effects of lobe A and lobe B of the Conserved Oligomeric Golgi complex on the stability of {beta}1,4-galactosyltransferase 1 and {alpha}2,6-sialyltransferase 1
Romain Peanne, Dominique Legrand, Sandrine Duvet, et al.
Journal of Inherited Metabolic Disease
|
September 4, 2015
Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG
Per Bengtson, Bobby G Ng, Jaak Jaeken, et al.
Page
of 20