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Annals of Surgical Oncology
|
July 23, 2020
Extended Resections for Advanced Gallbladder Cancer: Results from a Nationwide Cohort Study
H Kuipers, E A J de Savornin Lohman, M van Dooren, et al.
Journal of Inherited Metabolic Disease
|
August 27, 2013
Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients
Marisa I S Mendes, Henrique G Colaço, Desirée E C Smith, et al.
Nucleic Acids Research
|
November 22, 2024
Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC-MS/MS
Marisa I Mendes, Nicole I Wolf, Joëlle Rudinger-Thirion, et al.
Molecular Genetics and Metabolism
|
May 14, 2020
Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency
Ana Pop, Desirée E C Smith, Trevor Kirby, et al.
Journal of Inherited Metabolic Disease
|
July 26, 2018
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy
Curtis R Coughlin, Michael A Swanson, Elaine Spector, et al.
JCO Precision Oncology
|
May 6, 2024
Lethal Capecitabine Toxicity in Patients With Complete Dihydropyrimidine Dehydrogenase Deficiency Due to Ultra-Rare <i>DPYD</i> Variants
André B P van Kuilenburg, Marjolein C H Pleunis-van Empel, Rick B Brouwer, et al.
Journal of Inherited Metabolic Disease
|
December 15, 2017
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants
Ana Pop, Monique Williams, Eduard A Struys, et al.
Acta Obstetricia Et Gynecologica Scandinavica
|
November 19, 2016
Practice variation of vaginal birth after cesarean and the influence of risk factors at patient level: a retrospective cohort study
Emy Vankan, Ellen N Schoorel, Sander M van Kuijk, et al.
Journal of Medical Genetics
|
March 7, 2009
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype
T Kleefstra, W A van Zelst-Stams, W M Nillesen, et al.
BJOG : an International Journal of Obstetrics and Gynaecology
|
December 31, 2013
Vaginal birth after a caesarean section: the development of a Western European population-based prediction model for deliveries at term
E N C Schoorel, S M J van Kuijk, S Melman, et al.
Page
of 9
Search research articles
Search
Showing results (71-80 of 83) with videos related to
Sort By:
Page
of 9
Annals of Surgical Oncology
|
July 23, 2020
Extended Resections for Advanced Gallbladder Cancer: Results from a Nationwide Cohort Study
H Kuipers, E A J de Savornin Lohman, M van Dooren, et al.
Journal of Inherited Metabolic Disease
|
August 27, 2013
Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients
Marisa I S Mendes, Henrique G Colaço, Desirée E C Smith, et al.
Nucleic Acids Research
|
November 22, 2024
Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC-MS/MS
Marisa I Mendes, Nicole I Wolf, Joëlle Rudinger-Thirion, et al.
Molecular Genetics and Metabolism
|
May 14, 2020
Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency
Ana Pop, Desirée E C Smith, Trevor Kirby, et al.
Journal of Inherited Metabolic Disease
|
July 26, 2018
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy
Curtis R Coughlin, Michael A Swanson, Elaine Spector, et al.
JCO Precision Oncology
|
May 6, 2024
Lethal Capecitabine Toxicity in Patients With Complete Dihydropyrimidine Dehydrogenase Deficiency Due to Ultra-Rare <i>DPYD</i> Variants
André B P van Kuilenburg, Marjolein C H Pleunis-van Empel, Rick B Brouwer, et al.
Journal of Inherited Metabolic Disease
|
December 15, 2017
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants
Ana Pop, Monique Williams, Eduard A Struys, et al.
Acta Obstetricia Et Gynecologica Scandinavica
|
November 19, 2016
Practice variation of vaginal birth after cesarean and the influence of risk factors at patient level: a retrospective cohort study
Emy Vankan, Ellen N Schoorel, Sander M van Kuijk, et al.
Journal of Medical Genetics
|
March 7, 2009
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype
T Kleefstra, W A van Zelst-Stams, W M Nillesen, et al.
BJOG : an International Journal of Obstetrics and Gynaecology
|
December 31, 2013
Vaginal birth after a caesarean section: the development of a Western European population-based prediction model for deliveries at term
E N C Schoorel, S M J van Kuijk, S Melman, et al.
Page
of 9