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Stem Cell Research
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February 18, 2019
Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A
Dominic Lenz, Christian Staufner, Selina Wächter, et al.
Orphanet Journal of Rare Diseases
|
April 12, 2020
Primary carnitine deficiency - diagnosis after heart transplantation: better late than never!
Sarah C Grünert, Sara Tucci, Anke Schumann, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 14, 2023
Fat embolism syndrome in Duchenne muscular dystrophy: Report on a novel case and systematic literature review
Sabine Specht, Irina Zhukova, Jens H Westhoff, et al.
Pediatric Research
|
August 1, 2002
Ca(2+) and Na(+) dependence of 3-hydroxyglutarate-induced excitotoxicity in primary neuronal cultures from chick embryo telencephalons
Stefan Kölker, Georg Köhr, Barbara Ahlemeyer, et al.
Stem Cell Research
|
April 9, 2019
Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1
Dominic Lenz, Christian Staufner, Selina Wächter, et al.
European Journal of Pediatrics
|
October 26, 2020
Implementing a tracking system for confirmatory diagnostic results after positive newborn screening for cystic fibrosis-implications for process quality and patient care
Gwendolyn Gramer, Inken Brockow, Christiane Labitzke, et al.
Pediatric Research
|
March 22, 2006
Phenylalanine reduces synaptic density in mixed cortical cultures from mice
Friederike Hörster, Marina A Schwab, Sven W Sauer, et al.
Orphanet Journal of Rare Diseases
|
June 17, 2017
Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and Switzerland
Susanne Nettesheim, Stefan Kölker, Daniela Karall, et al.
International Journal of Neonatal Screening
|
March 27, 2024
New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center
Gwendolyn Gramer, Saskia B Wortmann, Junmin Fang-Hoffmann, et al.
The Journal of Pediatrics
|
June 20, 2002
The diagnosis of mitochondrial HMG-CoA synthase deficiency
Johannes Zschocke, Johannes M Penzien, Rainer Bielen, et al.
Page
of 39
Search research articles
Search
Showing results (131-140 of 381) with videos related to
Sort By:
Page
of 39
Stem Cell Research
|
February 18, 2019
Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A
Dominic Lenz, Christian Staufner, Selina Wächter, et al.
Orphanet Journal of Rare Diseases
|
April 12, 2020
Primary carnitine deficiency - diagnosis after heart transplantation: better late than never!
Sarah C Grünert, Sara Tucci, Anke Schumann, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 14, 2023
Fat embolism syndrome in Duchenne muscular dystrophy: Report on a novel case and systematic literature review
Sabine Specht, Irina Zhukova, Jens H Westhoff, et al.
Pediatric Research
|
August 1, 2002
Ca(2+) and Na(+) dependence of 3-hydroxyglutarate-induced excitotoxicity in primary neuronal cultures from chick embryo telencephalons
Stefan Kölker, Georg Köhr, Barbara Ahlemeyer, et al.
Stem Cell Research
|
April 9, 2019
Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1
Dominic Lenz, Christian Staufner, Selina Wächter, et al.
European Journal of Pediatrics
|
October 26, 2020
Implementing a tracking system for confirmatory diagnostic results after positive newborn screening for cystic fibrosis-implications for process quality and patient care
Gwendolyn Gramer, Inken Brockow, Christiane Labitzke, et al.
Pediatric Research
|
March 22, 2006
Phenylalanine reduces synaptic density in mixed cortical cultures from mice
Friederike Hörster, Marina A Schwab, Sven W Sauer, et al.
Orphanet Journal of Rare Diseases
|
June 17, 2017
Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and Switzerland
Susanne Nettesheim, Stefan Kölker, Daniela Karall, et al.
International Journal of Neonatal Screening
|
March 27, 2024
New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center
Gwendolyn Gramer, Saskia B Wortmann, Junmin Fang-Hoffmann, et al.
The Journal of Pediatrics
|
June 20, 2002
The diagnosis of mitochondrial HMG-CoA synthase deficiency
Johannes Zschocke, Johannes M Penzien, Rainer Bielen, et al.
Page
of 39