Works by Hartmann, Michaela F


Results: 48
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    Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency.

    Published in:
    Genes, 2022, v. 13, n. 5, p. 717, doi. 10.3390/genes13050717
    By:
    • Krasovec, Tjasa;
    • Sikonja, Jaka;
    • Zerjav Tansek, Mojca;
    • Debeljak, Marusa;
    • Ilovar, Sasa;
    • Trebusak Podkrajsek, Katarina;
    • Bertok, Sara;
    • Tesovnik, Tine;
    • Kovac, Jernej;
    • Suput Omladic, Jasna;
    • Hartmann, Michaela F.;
    • Wudy, Stefan A.;
    • Avbelj Stefanija, Magdalena;
    • Battelino, Tadej;
    • Kotnik, Primoz;
    • Groselj, Urh
    Publication type:
    Article
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    Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo‐epi‐metaphyseal dysplasia.

    Published in:
    Clinical Genetics, 2023, v. 103, n. 1, p. 45, doi. 10.1111/cge.14239
    By:
    • van de Kamp, Jiddeke M.;
    • Bökenkamp, Arend;
    • Smith, Desiree E. C.;
    • Wamelink, Mirjam M. C.;
    • Jansen, Erwin E. W.;
    • Struys, Eduard A.;
    • Waisfisz, Quinten;
    • Verkleij, Marieke;
    • Hartmann, Michaela F.;
    • Wang, Rong;
    • Wudy, Stefan A.;
    • Paganini, Chiara;
    • Rossi, Antonio;
    • Finken, Martijn J. J.
    Publication type:
    Article
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    Late diagnosis of 3β-Hydroxysteroid dehydrogenase deficiency: the pivotal role of gas chromatography-mass spectrometry urinary steroid metabolome analysis and a novel homozygous nonsense mutation in the HSD3B2 gene.

    Published in:
    Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 1, p. 131, doi. 10.1515/jpem-2020-0245
    By:
    • Fanis, Pavlos;
    • Neocleous, Vassos;
    • Kosta, Konstantina;
    • Karipiadou, Aristea;
    • Hartmann, Michaela F.;
    • Wudy, Stefan A.;
    • Karantaglis, Nikolaos;
    • Papadimitriou, Dimitrios T.;
    • Skordis, Nicos;
    • Tsikopoulos, Georgios;
    • Phylactou, Leonidas A.;
    • Roilides, Emmanouil;
    • Papagianni, Maria
    Publication type:
    Article
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    Personalized approach to childhood obesity: Lessons from gut microbiota and omics studies. Narrative review and insights from the 29th European childhood obesity congress.

    Published in:
    Pediatric Obesity, 2021, v. 16, n. 10, p. 1, doi. 10.1111/ijpo.12835
    By:
    • Gawlik, Aneta;
    • Salonen, Anne;
    • Jian, Ching;
    • Yanover, Chen;
    • Antosz, Aleksandra;
    • Shmoish, Michael;
    • Wasniewska, Malgorzata;
    • Bereket, Abdullah;
    • Wudy, Stefan A.;
    • Hartmann, Michaela F.;
    • Thivel, David;
    • Matusik, Pawel;
    • Weghuber, Daniel;
    • Hochberg, Ze'ev
    Publication type:
    Article
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    Prepubertal Glucocorticoid Status and Pubertal Timing.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 6, p. E891, doi. 10.1210/jc.2010-2935
    By:
    • Lijie Shi;
    • Wudy, Stefan A.;
    • Buyken, Anette E.;
    • Maser-Gluth, Christiane;
    • F. Hartmann, Michaela;
    • Remer, Thomas
    Publication type:
    Article
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    Ensuring quality in 17OHP mass spectrometry measurement: an international study assessing isomeric steroid interference.

    Published in:
    Clinical Chemistry & Laboratory Medicine, 2024, v. 62, n. 5, p. 911, doi. 10.1515/cclm-2023-0864
    By:
    • Ho, Chung Shun;
    • Hoad, Kirsten;
    • Cooke, Brian R.;
    • Andersen, Trisha;
    • Graham, Peter;
    • van den Berg, Sjoerd A.A.;
    • Hartmann, Michaela F.;
    • Lo, Clara W.S.;
    • Loh, Tze Ping;
    • de Rijke, Yolanda B.;
    • van Zelst, Bertrand D.;
    • Wudy, Stefan A.;
    • Zakaria, Rosita;
    • Greaves, Ronda F.
    Publication type:
    Article
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    Influence of isotopically labeled internal standards on quantification of serum/plasma 17α-hydroxyprogesterone (17OHP) by liquid chromatography mass spectrometry.

    Published in:
    Clinical Chemistry & Laboratory Medicine, 2020, v. 58, n. 10, p. 1731, doi. 10.1515/cclm-2020-0318
    By:
    • Loh, Tze Ping;
    • Ho, Chung Shun;
    • Hartmann, Michaela F.;
    • Zakaria, Rosita;
    • Lo, Clara Wai Shan;
    • van den Berg, Sjoerd;
    • de Rijke, Yolanda B.;
    • Cooke, Brian R.;
    • Hoad, Kirsten;
    • Graham, Peter;
    • Davies, Stephen R.;
    • Mackay, Lindsey G.;
    • Wudy, Stefan A.;
    • Greaves, Ronda F.
    Publication type:
    Article
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