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Georg F Hoffmann

Showing results (241-250 of 381) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2023
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disordersRoland Posset, Sven F Garbade, Florian Gleich, et al.
Journal of Child Neurology|December 29, 2012
Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish familyThomas Opladen, Friedrich Ebinger, Johannes Zschocke, et al.
Molecular Genetics and Metabolism|December 7, 2007
Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiencyLeandra Jäggi, Marcel R Zurflüh, Agnes Schuler, et al.
Molecular Genetics and Metabolism|December 8, 2020
Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disordersRoland Posset, Stefan Kölker, Florian Gleich, et al.
Clinical Immunology (Orlando, Fla.)|December 6, 2016
Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC)Laura Tagliaferri, Joachim B Kunz, Margit Happich, et al.
Human Mutation|January 4, 2012
Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-IpChristian Thiel, Nina Rind, Diana Popovici, et al.
Scientific Reports|July 16, 2020
Glycogen accumulation, central carbon metabolism, and aging of hematopoietic stem and progenitor cellsLaura Poisa-Beiro, Judith Thoma, Jonathan Landry, et al.
Human Mutation|June 21, 2006
A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari populationMahmoud F El-Said, Ramin Badii, M S Bessisso, et al.
Reproductive Biomedicine Online|February 12, 2005
Public, expert and patients' opinions on preimplantation genetic diagnosis (PGD) in GermanyTanja Krones, Elmar Schlüter, Konstantin Manolopoulos, et al.
Annals of Clinical and Translational Neurology|October 11, 2022
Predicting the disease severity in male individuals with ornithine transcarbamylase deficiencySvenja Scharre, Roland Posset, Sven F Garbade, et al.
Pageof 39

Showing results (241-250 of 381) with videos related to

Sort By:
Pageof 39
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2023
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disordersRoland Posset, Sven F Garbade, Florian Gleich, et al.
Journal of Child Neurology|December 29, 2012
Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish familyThomas Opladen, Friedrich Ebinger, Johannes Zschocke, et al.
Molecular Genetics and Metabolism|December 7, 2007
Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiencyLeandra Jäggi, Marcel R Zurflüh, Agnes Schuler, et al.
Molecular Genetics and Metabolism|December 8, 2020
Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disordersRoland Posset, Stefan Kölker, Florian Gleich, et al.
Clinical Immunology (Orlando, Fla.)|December 6, 2016
Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC)Laura Tagliaferri, Joachim B Kunz, Margit Happich, et al.
Human Mutation|January 4, 2012
Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-IpChristian Thiel, Nina Rind, Diana Popovici, et al.
Scientific Reports|July 16, 2020
Glycogen accumulation, central carbon metabolism, and aging of hematopoietic stem and progenitor cellsLaura Poisa-Beiro, Judith Thoma, Jonathan Landry, et al.
Human Mutation|June 21, 2006
A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari populationMahmoud F El-Said, Ramin Badii, M S Bessisso, et al.
Reproductive Biomedicine Online|February 12, 2005
Public, expert and patients' opinions on preimplantation genetic diagnosis (PGD) in GermanyTanja Krones, Elmar Schlüter, Konstantin Manolopoulos, et al.
Annals of Clinical and Translational Neurology|October 11, 2022
Predicting the disease severity in male individuals with ornithine transcarbamylase deficiencySvenja Scharre, Roland Posset, Sven F Garbade, et al.
Pageof 39