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Orphanet Journal of Rare Diseases
|
August 31, 2018
Can untreated PKU patients escape from intellectual disability? A systematic review
Danique van Vliet, Annemiek M J van Wegberg, Kirsten Ahring, et al.
Brain Communications
|
May 17, 2024
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome
Eleonora Manzoni, Sara Carli, Pauline Gaignard, et al.
Gastroenterology
|
November 26, 2025
Fecal Detection of Calprotectin Subunits Links Inflammatory Bowel Disease Activity With Chronicity of Intestinal Inflammation
Almina Jukic, Richard Hilbe, Luis Zundel, et al.
American Journal of Human Genetics
|
July 16, 2020
The Genetic Landscape and Epidemiology of Phenylketonuria
Alicia Hillert, Yair Anikster, Amaya Belanger-Quintana, et al.
Brain : a Journal of Neurology
|
February 21, 2024
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study
Natalia Juliá-Palacios, Mireia Olivella, Mariya Sigatullina Bondarenko, et al.
Journal of Inherited Metabolic Disease
|
June 17, 2015
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
Stefan Kölker, Angeles Garcia Cazorla, Vassili Valayannopoulos, et al.
Journal of Inherited Metabolic Disease
|
April 16, 2015
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
Stefan Kölker, Angeles Garcia-Cazorla, Angeles Garcia Cazorla, et al.
Journal of Inherited Metabolic Disease
|
April 16, 2015
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
Stefan Kölker, Vassili Valayannopoulos, Alberto B Burlina, et al.
Journal of Inherited Metabolic Disease
|
June 17, 2015
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
Stefan Kölker, Vassili Valayannopoulos, Alberto B Burlina, et al.
Page
of 13
Search research articles
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Showing results (121-130 of 129) with videos related to
Sort By:
Page
of 13
You have reached the last page of results.
This site can display upto 129 results.
Orphanet Journal of Rare Diseases
|
August 31, 2018
Can untreated PKU patients escape from intellectual disability? A systematic review
Danique van Vliet, Annemiek M J van Wegberg, Kirsten Ahring, et al.
Brain Communications
|
May 17, 2024
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome
Eleonora Manzoni, Sara Carli, Pauline Gaignard, et al.
Gastroenterology
|
November 26, 2025
Fecal Detection of Calprotectin Subunits Links Inflammatory Bowel Disease Activity With Chronicity of Intestinal Inflammation
Almina Jukic, Richard Hilbe, Luis Zundel, et al.
American Journal of Human Genetics
|
July 16, 2020
The Genetic Landscape and Epidemiology of Phenylketonuria
Alicia Hillert, Yair Anikster, Amaya Belanger-Quintana, et al.
Brain : a Journal of Neurology
|
February 21, 2024
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study
Natalia Juliá-Palacios, Mireia Olivella, Mariya Sigatullina Bondarenko, et al.
Journal of Inherited Metabolic Disease
|
June 17, 2015
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
Stefan Kölker, Angeles Garcia Cazorla, Vassili Valayannopoulos, et al.
Journal of Inherited Metabolic Disease
|
April 16, 2015
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
Stefan Kölker, Angeles Garcia-Cazorla, Angeles Garcia Cazorla, et al.
Journal of Inherited Metabolic Disease
|
April 16, 2015
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
Stefan Kölker, Vassili Valayannopoulos, Alberto B Burlina, et al.
Journal of Inherited Metabolic Disease
|
June 17, 2015
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
Stefan Kölker, Vassili Valayannopoulos, Alberto B Burlina, et al.
Page
of 13