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Eva Morava

Showing results (221-230 of 355) with videos related to

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American Journal of Medical Genetics. Part A|February 13, 2013
Perinatal and early infantile symptoms in congenital disorders of glycosylationSimone Funke, Thatjana Gardeitchik, Dorus Kouwenberg, et al.
Molecular Genetics and Metabolism|March 6, 2012
Thyroid function in PMM2-CDG: diagnostic approach and proposed managementMiski Mohamed, Miranda Theodore, Hedi Claahsen-van der Grinten, et al.
Translational Research : the Journal of Laboratory and Clinical Medicine|January 29, 2023
AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG)Bijina Balakrishnan, Ruqaiah Altassan, Rohit Budhraja, et al.
Biorxiv : the Preprint Server for Biology|February 6, 2026
Repurposing the HMG-CoA Reductase Inhibitor Atorvastatin for SRD5A3-CDGHiba Daghar, Seul Kee Byeon, Claudia Maios, et al.
Pediatric Research|December 20, 2008
Mitochondrial energy production correlates with the age-related BMISaskia B Wortmann, Heidi Zweers-van Essen, Richard J T Rodenburg, et al.
BMC Rheumatology|August 29, 2022
Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case reportMatheus V M B Wilke, Eva Morava-Kozicz, Matthew J Koster, et al.
Journal of Child Neurology|May 23, 2009
[(1)H] magnetic resonance spectroscopy of urine: diagnosis of a guanidinoacetate methyl transferase deficiency caseMaria Tassini, Raffaella Zannolli, Sabrina Buoni, et al.
European Journal of Human Genetics : EJHG|December 13, 2012
Symptomatic lipid storage in carriers for the PNPLA2 geneMirian C H Janssen, Baziel van Engelen, Livia Kapusta, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 28, 2020
Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDGPeter Witters, Shawn Tahata, Rita Barone, et al.
Scientific Reports|March 8, 2024
From periphery immunity to central domain through clinical interview as a new insight on schizophreniaWirginia Krzyściak, Marta Szwajca, Natalia Śmierciak, et al.
Pageof 36

Showing results (221-230 of 355) with videos related to

Sort By:
Pageof 36
American Journal of Medical Genetics. Part A|February 13, 2013
Perinatal and early infantile symptoms in congenital disorders of glycosylationSimone Funke, Thatjana Gardeitchik, Dorus Kouwenberg, et al.
Molecular Genetics and Metabolism|March 6, 2012
Thyroid function in PMM2-CDG: diagnostic approach and proposed managementMiski Mohamed, Miranda Theodore, Hedi Claahsen-van der Grinten, et al.
Translational Research : the Journal of Laboratory and Clinical Medicine|January 29, 2023
AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG)Bijina Balakrishnan, Ruqaiah Altassan, Rohit Budhraja, et al.
Biorxiv : the Preprint Server for Biology|February 6, 2026
Repurposing the HMG-CoA Reductase Inhibitor Atorvastatin for SRD5A3-CDGHiba Daghar, Seul Kee Byeon, Claudia Maios, et al.
Pediatric Research|December 20, 2008
Mitochondrial energy production correlates with the age-related BMISaskia B Wortmann, Heidi Zweers-van Essen, Richard J T Rodenburg, et al.
BMC Rheumatology|August 29, 2022
Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case reportMatheus V M B Wilke, Eva Morava-Kozicz, Matthew J Koster, et al.
Journal of Child Neurology|May 23, 2009
[(1)H] magnetic resonance spectroscopy of urine: diagnosis of a guanidinoacetate methyl transferase deficiency caseMaria Tassini, Raffaella Zannolli, Sabrina Buoni, et al.
European Journal of Human Genetics : EJHG|December 13, 2012
Symptomatic lipid storage in carriers for the PNPLA2 geneMirian C H Janssen, Baziel van Engelen, Livia Kapusta, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 28, 2020
Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDGPeter Witters, Shawn Tahata, Rita Barone, et al.
Scientific Reports|March 8, 2024
From periphery immunity to central domain through clinical interview as a new insight on schizophreniaWirginia Krzyściak, Marta Szwajca, Natalia Śmierciak, et al.
Pageof 36