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5 results for Blessing,+Holger

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ArticlesPeer ReviewedFull Text
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
Author / Creator:Yépez, Vicente A ; Gusic, Mirjana ; Kopajtich, Robert ; Mertes, Christian ; Smith, Nicholas H ; Alston, Charlotte L ; Ban, Rui ; Beblo, Skadi ; Berutti, Riccardo ; Blessing, Holger ; Ciara, Elżbieta ; Distelmaier, Felix ; Freisinger, Peter ; Häberle, Johannes ; Hayflick, Susan J ; Hempel, Maja ; Itkis, Yulia S ; Kishita, Yoshihito ; Klopstock, Thomas ; Krylova, Tatiana D ; Lamperti, Costanza ; Lenz, Dominic ; Makowski, Christine ; Mosegaard, Signe ; Müller, Michaela F ; Muñoz-Pujol, Gerard ; Nadel, Agnieszka ; Ohtake, Akira ; Okazaki, Yasushi ; Procopio, Elena ; Schwarzmayr, Thomas ; Smet, Joél ; Staufner, Christian ; Stenton, Sarah L ; Strom, Tim M ; Terrile, Caterina ; Tort, Frederic ; Van Coster, Rudy ; Vanlander, Arnaud ; Wagner, Matias ; Xu, Manting ; Fang, Fang ; Ghezzi, Daniele ; Mayr, Johannes A ; Piekutowska-Abramczuk, Dorota ; Ribes, Antonia ; Rötig, Agnès ; Taylor, Robert W ; Wortmann, Saskia B ; Murayama, Kei ; Meitinger, Thomas ; Gagneur, Julien ; Prokisch, Holger
Publisher:England: BioMed Central Ltd
Journal title:Genome medicine, 2022-04, Vol.14 (1), p.38-38, Article 38
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Diagnostic Challenges Using a 2-Tier Strategy for Methylmalonic Acidurias: Data from 1.2 Million Dried Blood Spots
Author / Creator:Weiss, Katharina J. ; Röschinger, Wulf ; Blessing, Holger ; Lotz-Havla, Amelie S. ; Schiergens, Katharina A. ; Maier, Esther M.
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Annals of nutrition and metabolism, 2020-12, Vol.76 (4), p.268-276
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Placental 11β-HSD2 Gene Expression at Birth Is Inversely Correlated With Growth Velocity in the First Year of Life After Intrauterine Growth Restriction
Author / Creator:Tzschoppe, Anja ; Struwe, Ellen ; Blessing, Holger ; Fahlbusch, Fabian ; Liebhaber, Gisela ; Dörr, Helmuth G ; Rauh, Manfred ; Rascher, Wolfgang ; Goecke, Tamme W ; Schild, Ralf L ; Schleussner, Ekkehard ; Scheler, Cerrie ; Hübler, Axel ; Dahlem, Peter ; Dötsch, Jörg
Publisher:New York: Nature Publishing Group US
Journal title:Pediatric research, 2009-06, Vol.65 (6), p.647-653
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Placental 11beta-HSD2 gene expression at birth is inversely correlated with growth velocity in the first year of life after intrauterine growth restriction
Author / Creator:Tzschoppe, Anja ; Struwe, Ellen ; Blessing, Holger ; Fahlbusch, Fabian ; Liebhaber, Gisela ; Dörr, Helmuth G ; Rauh, Manfred ; Rascher, Wolfgang ; Goecke, Tamme W ; Schild, Ralf L ; Schleussner, Ekkehard ; Scheler, Cerrie ; Hübler, Axel ; Dahlem, Peter ; Dötsch, Jörg
Publisher:United States
Journal title:Pediatric research, 2009-06, Vol.65 (6), p.647-653
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GATA6 Mutations Cause a Broad Phenotypic Spectrum of Diabetes From Pancreatic Agenesis to Adult-Onset Diabetes Without Exocrine Insufficiency
Author / Creator:DE FRANCO, Elisa ; SHAW-SMITH, Charles ; FLANAGAN, Sarah E ; SHEPHERD, Maggie H ; NDM CONSORTIUM, International ; HATTERSLEY, Andrew T ; ELLARD, Sian
Publisher:Alexandria, VA: American Diabetes Association
Journal title:Diabetes (New York, N.Y.), 2013-03, Vol.62 (3), p.993-997
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Clinical implementation of RNA sequencing for Mendelian disease diagnostics

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Diagnostic Challenges Using a 2-Tier Strategy for Methylmalonic Acidurias: Data from 1.2 Million Dried Blood Spots

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Placental 11β-HSD2 Gene Expression at Birth Is Inversely Correlated With Growth Velocity in the First Year of Life After Intrauterine Growth Restriction

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Placental 11beta-HSD2 gene expression at birth is inversely correlated with growth velocity in the first year of life after intrauterine growth restriction

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GATA6 Mutations Cause a Broad Phenotypic Spectrum of Diabetes From Pancreatic Agenesis to Adult-Onset Diabetes Without Exocrine Insufficiency

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