Jeltsch, Kathrin Dr. sc. hum.Universität HeidelbergHeidelberg
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Co-Autoren (Uni Heidelberg)
- Kräusslich, Hans-Georg (2)
- Müller, Barbara (2)
- Tönshoff, Burkhard (2)
- Himmelreich, Nastassja (2)
- Gleich, Florian (2)
- Blau, Nenad (2)
- Jung-Klawitter, Sabine (2)
- Schnitzler, Paul (1)
- Schaefer, Franz (1)
- Börner, Kathleen (1)
- Haas, Dorothea (1)
- Schröter, Julian (1)
- Maier-Laufs, Stephanie (1)
- Patry, Christian (1)
- Grulich-Henn, Jürgen (1)
- Heuser, Anke-Mareil (1)
- Meissner, Peter (1)
- Nieters, Alexandra (1)
- Zeller, W. Jens (1)
- Weidner, Niklas Maximilian (1)
- Stich, Maximilian (1)
- Schneble, Lukas (1)
- Waterboer, Tim (1)
- Beedgen, Lars (1)
- Turinsky, Martin (1)
- Keller, Mareike (1)
- Thiel, Christian (1)
Co-Autoren (extern)
- Cortès-Saladelafont, Elisenda (3)
- Thöny, Beat (2)
- Bao, Xinhua (2)
- Zeman, Jiri (2)
- Thöny, Beat (2)
- Tabarki, Brahim (2)
- Burlina, Alberto (2)
- Yildiz, Yilmaz (2)
- Mastrangelo, Mario (2)
- Horvath, Gabriella (2)
- Anikster, Yair (2)
- Mercimek-Andrews, Saadet (2)
- Juliá-Palacios, Natalia (2)
- García-Cazorla, Àngels (2)
- Gibson, K. Michael (1)
- Maier, Patrick (1)
- Wenz, Frederik (1)
- Allgayer, Heike (1)
- Giordano, Frank Anton (1)
- Peter, Andreas (1)
- Welker, Andreas (1)
- Frühauf, Stefan (1)
- Debatin, Klaus-Michael (1)
- Martinelli, Diego (1)
- Friedman, Jennifer R. (1)
- Hübner, Johannes (1)
- Dötsch, Jörg (1)
- Simon, Anna (1)
- Dionisi-Vici, Carlo (1)
- Manti, Filippo (1)
- Hyland, Keith (1)
- Horvath, Gabriela Ana (1)
- Pearson, Toni S. (1)
- (weitere Einträge vorhanden...)
Neueste Publikationen in heiBIB 
(ingesamt sind 20 Publikationen erfasst)
- Julià-Palacios, Natalia: The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency / Natalia Alexandra Julia-Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, Roser Pons, Gabriella Hor… , May 2024. - 16 S. : Illustrationen
In: Journal of inherited metabolic disease, ISSN 1573-2665. 47(2024), 3 vom: Mai, Seite 447-462
DOI: 10.1002/jimd.12723
- Tokatly Latzer, Itay: Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants / Itay Tokatly Latzer, Jean-Baptiste Roullet, Samuele Cesaro, Melissa L. DiBacco, Erland Arning, Alexa… , 14 November 2023. - 22 S.
In: Human genetics, ISSN 1432-1203. 142(2023), 12, Seite 1755-1776
DOI: 10.1007/s00439-023-02613-6
- Himmelreich, Nastassja: Corrigendum to : Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes / Nastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel, Malak Ali Alghamdi, Yair Anikster, Xinhua… , 7 July 2023. - 5 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 139(2023), 4, Artikel-ID 107647, Seite 1-5
DOI: 10.1016/j.ymgme.2023.107647
- Himmelreich, Nastassja: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes / Nastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel, Malak Ali Alghamdi, Yair Anikster, Xinhua… , July 2023. - 15 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 139(2023), 3 vom: Juli, Artikel-ID 107624, Seite 1-15
DOI: 10.1016/j.ymgme.2023.107624
- Alfonsi, Chiara: Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders / Chiara Alfonsi, Christian Stephan-Otto, Elisenda Cortès-Saladelafont, Natalia Juliá Palacios, Inés P… , 04 June 2022. - 12 S. : Illustrationen
In: Neuroradiology, ISSN 1432-1920. 64(2022), 11, Seite 2179-2190
DOI: 10.1007/s00234-022-02989-8
- Kuseyri Hübschmann, Oya: Integrative approach to predict severity in nonketotic hyperglycinemia / Oya Kuseyri Hübschmann, MD, Natalia Alexandra Juliá-Palacios, MD, Mireia Olivella, PhD, Philipp Gude… , August 2022. - 12 S. : Illustrationen
In: Annals of neurology, ISSN 1531-8249. 92(2022), 2 vom: Aug., Seite 292-303
DOI: 10.1002/ana.26423
- Tristán-Noguero, Alba: Novel protein biomarkers of monoamine metabolism defects correlate with disease severity / Alba Tristán-Noguero, PhD, Eva Borràs, PhD, Marta Molero-Luis, PhD, Tessa Wassenberg, MD, PhD, Tessa… , March 2021. - 14 S.
In: Movement disorders, ISSN 1531-8257. 36(2021), 3 vom: März, Seite 690-703
DOI: 10.1002/mds.28362
- Brennenstuhl, Heiko: Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria / Heiko Brennenstuhl, Mohammed Nashawi, Julian Schröter, Federico Baronio, Lars Beedgen, Florian Gleic… , 2021. - 16 S. : Illustrationen
In: Journal of inherited metabolic disease, ISSN 1573-2665. 44(2021), 5, Seite 1272-1287
DOI: 10.1002/jimd.12412
- Keller, Mareike: Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders : Data from the iNTD registry / Mareike Keller, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, Filippo Manti, Natalia Alexandra Julia P… , November 2021. - 14 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 44(2021), 6 vom: Nov., Seite 1489-1502
DOI: 10.1002/jimd.12416
- Opladen, Thomas: U-IMD : the first Unified European registry for inherited metabolic diseases / Thomas Opladen, Florian Gleich, Viktor Kozich, Maurizio Scarpa, Diego Martinelli, Franz Schaefer, Ka… , 18 February 2021. - 10 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 16(2021), Artikel-ID 95, Seite 1-10
DOI: 10.1186/s13023-021-01726-3
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