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International Journal of Molecular Sciences
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February 15, 2022
Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?
Tama Dinur, Peter Bauer, Christian Beetz, et al.
JIMD Reports
|
February 23, 2013
Newborn screening for lysosomal storage disorders in hungary
Judit Wittmann, Eszter Karg, Sàndor Turi, et al.
Journal of Human Genetics
|
November 27, 2019
A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients
Adila Al-Kindi, Maryam Al-Shehhi, Ana Westenberger, et al.
International Journal of Molecular Sciences
|
July 2, 2020
Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood Spots
Claudia Cozma, Paskal Cullufi, Guido Kramp, et al.
Journal of Neuroscience Research
|
December 28, 2002
Ciliary neurotrophic factor overexpression in neural progenitor cells (ST14A) increases proliferation, metabolic activity, and resistance to stress during differentiation
Sabine Weinelt, Sabine Peters, Peter Bauer, et al.
Clinical Nephrology
|
March 30, 2013
What lies beneath: Fabry nephropathy in a female patient with severe cerebrovascular disease
Elen A Romão, Charles M Lourenço, Wilson Marques Júnior, et al.
JIMD Reports
|
February 10, 2015
Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism
Majid Alfadhel, Muhammad Talal Alrifai, Daniel Trujillano, et al.
Neuropediatrics
|
December 19, 2003
Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K
K Harzer, A Rolfs, P Bauer, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
June 2, 2005
Building a human kinase gene repository: bioinformatics, molecular cloning, and functional validation
Jaehong Park, Yanhui Hu, T V S Murthy, et al.
Schizophrenia Bulletin
|
January 20, 2024
Abnormal Oculomotor Corollary Discharge Signaling as a Trans-diagnostic Mechanism of Psychosis
Beier Yao, Martin Rolfs, Rachael Slate, et al.
Page
of 64
Search research articles
Search
Showing results (461-470 of 632) with videos related to
Sort By:
Page
of 64
International Journal of Molecular Sciences
|
February 15, 2022
Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?
Tama Dinur, Peter Bauer, Christian Beetz, et al.
JIMD Reports
|
February 23, 2013
Newborn screening for lysosomal storage disorders in hungary
Judit Wittmann, Eszter Karg, Sàndor Turi, et al.
Journal of Human Genetics
|
November 27, 2019
A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients
Adila Al-Kindi, Maryam Al-Shehhi, Ana Westenberger, et al.
International Journal of Molecular Sciences
|
July 2, 2020
Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood Spots
Claudia Cozma, Paskal Cullufi, Guido Kramp, et al.
Journal of Neuroscience Research
|
December 28, 2002
Ciliary neurotrophic factor overexpression in neural progenitor cells (ST14A) increases proliferation, metabolic activity, and resistance to stress during differentiation
Sabine Weinelt, Sabine Peters, Peter Bauer, et al.
Clinical Nephrology
|
March 30, 2013
What lies beneath: Fabry nephropathy in a female patient with severe cerebrovascular disease
Elen A Romão, Charles M Lourenço, Wilson Marques Júnior, et al.
JIMD Reports
|
February 10, 2015
Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism
Majid Alfadhel, Muhammad Talal Alrifai, Daniel Trujillano, et al.
Neuropediatrics
|
December 19, 2003
Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K
K Harzer, A Rolfs, P Bauer, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
June 2, 2005
Building a human kinase gene repository: bioinformatics, molecular cloning, and functional validation
Jaehong Park, Yanhui Hu, T V S Murthy, et al.
Schizophrenia Bulletin
|
January 20, 2024
Abnormal Oculomotor Corollary Discharge Signaling as a Trans-diagnostic Mechanism of Psychosis
Beier Yao, Martin Rolfs, Rachael Slate, et al.
Page
of 64