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Orphanet Journal of Rare Diseases
|
April 10, 2019
High blood pressure, a red flag for the neonatal manifestation of urea cycle disorders
Ulrike Teufel, Peter Burgard, Jochen Meyburg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 21, 2020
Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies
Julian Schröter, Jan H Döring, Sven F Garbade, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 21, 2017
Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism
Jessica J Y Lee, Wyeth W Wasserman, Georg F Hoffmann, et al.
World Journal of Pediatrics : WJP
|
June 28, 2018
High incidence of maternal vitamin B<sub>12</sub> deficiency detected by newborn screening: first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panel
Gwendolyn Gramer, Junmin Fang-Hoffmann, Patrik Feyh, et al.
The Journal of Biological Chemistry
|
October 23, 1997
Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiency
D D Hinson, K L Chambliss, G F Hoffmann, et al.
The International Journal of Neuropsychopharmacology
|
October 9, 2002
Sleep microarchitecture as a predictor of recurrence in children and adolescents with depression
Roseanne Armitage, Robert F Hoffmann, Graham J Emslie, et al.
Chemical Communications (Cambridge, England)
|
August 12, 2022
Air-stable aryl derivatives of pentafluoroorthotellurate
Daniel Wegener, Kurt F Hoffmann, Alberto Pérez-Bitrián, et al.
Neurology
|
August 23, 2006
Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency
A Schulze, G F Hoffmann, P Bachert, et al.
Chronobiology International
|
January 6, 2012
Dim light melatonin onset in alcohol-dependent men and women compared with healthy controls
Deirdre A Conroy, Ilana S Hairston, J Todd Arnedt, et al.
Pediatric Transplantation
|
September 3, 2011
High urgency liver transplantation in ornithine transcarbamylase deficiency presenting with acute liver failure
Ulrike Teufel, Jürgen Weitz, Christa Flechtenmacher, et al.
Page
of 126
Search research articles
Search
Showing results (671-680 of 1,255) with videos related to
Sort By:
Page
of 126
Orphanet Journal of Rare Diseases
|
April 10, 2019
High blood pressure, a red flag for the neonatal manifestation of urea cycle disorders
Ulrike Teufel, Peter Burgard, Jochen Meyburg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 21, 2020
Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies
Julian Schröter, Jan H Döring, Sven F Garbade, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 21, 2017
Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism
Jessica J Y Lee, Wyeth W Wasserman, Georg F Hoffmann, et al.
World Journal of Pediatrics : WJP
|
June 28, 2018
High incidence of maternal vitamin B<sub>12</sub> deficiency detected by newborn screening: first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panel
Gwendolyn Gramer, Junmin Fang-Hoffmann, Patrik Feyh, et al.
The Journal of Biological Chemistry
|
October 23, 1997
Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiency
D D Hinson, K L Chambliss, G F Hoffmann, et al.
The International Journal of Neuropsychopharmacology
|
October 9, 2002
Sleep microarchitecture as a predictor of recurrence in children and adolescents with depression
Roseanne Armitage, Robert F Hoffmann, Graham J Emslie, et al.
Chemical Communications (Cambridge, England)
|
August 12, 2022
Air-stable aryl derivatives of pentafluoroorthotellurate
Daniel Wegener, Kurt F Hoffmann, Alberto Pérez-Bitrián, et al.
Neurology
|
August 23, 2006
Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency
A Schulze, G F Hoffmann, P Bachert, et al.
Chronobiology International
|
January 6, 2012
Dim light melatonin onset in alcohol-dependent men and women compared with healthy controls
Deirdre A Conroy, Ilana S Hairston, J Todd Arnedt, et al.
Pediatric Transplantation
|
September 3, 2011
High urgency liver transplantation in ornithine transcarbamylase deficiency presenting with acute liver failure
Ulrike Teufel, Jürgen Weitz, Christa Flechtenmacher, et al.
Page
of 126