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American Journal of Human Genetics
|
January 28, 2014
NR2F1 mutations cause optic atrophy with intellectual disability
Daniëlle G M Bosch, F Nienke Boonstra, Claudia Gonzaga-Jauregui, et al.
Molecular Genetics and Metabolism
|
October 15, 2011
The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: evaluation of protocol and influence of baseline phenylalanine concentration
K Anjema, G Venema, F C Hofstede, et al.
Cancers
|
March 13, 2024
Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS)
Linda A J Hendricks, Katja C J Verbeek, Janneke H M Schuurs-Hoeijmakers, et al.
American Journal of Human Genetics
|
April 19, 2016
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions
Brieana Fregeau, Bum Jun Kim, Andrés Hernández-García, et al.
Journal of Inherited Metabolic Disease
|
November 10, 2025
Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases
Ellen M Hulshof, Hugo P Lantinga, Gonnie Alkemade, et al.
The Journal of Clinical Endocrinology and Metabolism
|
June 25, 2021
Second-tier Testing for 21-Hydroxylase Deficiency in the Netherlands: A Newborn Screening Pilot Study
Kevin Stroek, An Ruiter, Annelieke van der Linde, et al.
Journal of Inherited Metabolic Disease
|
September 12, 2022
A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT
Quinton S Katler, Karolina M Stepien, Nathan Paull, et al.
Journal of Inherited Metabolic Disease
|
February 15, 2019
Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes
Jeannette C Bleeker, Irene L Kok, Sacha Ferdinandusse, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 18, 2016
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations
Chun-An Chen, Daniëlle G M Bosch, Megan T Cho, et al.
International Journal of Neonatal Screening
|
October 24, 2023
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening
Abigail Veldman, M B Gea Kiewiet, Dineke Westra, et al.
Page
of 42
Search research articles
Search
Showing results (391-400 of 412) with videos related to
Sort By:
Page
of 42
American Journal of Human Genetics
|
January 28, 2014
NR2F1 mutations cause optic atrophy with intellectual disability
Daniëlle G M Bosch, F Nienke Boonstra, Claudia Gonzaga-Jauregui, et al.
Molecular Genetics and Metabolism
|
October 15, 2011
The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: evaluation of protocol and influence of baseline phenylalanine concentration
K Anjema, G Venema, F C Hofstede, et al.
Cancers
|
March 13, 2024
Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS)
Linda A J Hendricks, Katja C J Verbeek, Janneke H M Schuurs-Hoeijmakers, et al.
American Journal of Human Genetics
|
April 19, 2016
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions
Brieana Fregeau, Bum Jun Kim, Andrés Hernández-García, et al.
Journal of Inherited Metabolic Disease
|
November 10, 2025
Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases
Ellen M Hulshof, Hugo P Lantinga, Gonnie Alkemade, et al.
The Journal of Clinical Endocrinology and Metabolism
|
June 25, 2021
Second-tier Testing for 21-Hydroxylase Deficiency in the Netherlands: A Newborn Screening Pilot Study
Kevin Stroek, An Ruiter, Annelieke van der Linde, et al.
Journal of Inherited Metabolic Disease
|
September 12, 2022
A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT
Quinton S Katler, Karolina M Stepien, Nathan Paull, et al.
Journal of Inherited Metabolic Disease
|
February 15, 2019
Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes
Jeannette C Bleeker, Irene L Kok, Sacha Ferdinandusse, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 18, 2016
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations
Chun-An Chen, Daniëlle G M Bosch, Megan T Cho, et al.
International Journal of Neonatal Screening
|
October 24, 2023
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening
Abigail Veldman, M B Gea Kiewiet, Dineke Westra, et al.
Page
of 42