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Haun, Markus W.: Primary care patients’ experiences of video consultations for depression and anxiety : a qualitative interview study embedded in a randomized feasibility trial / Markus W. Haun, Lydia Oeljeklaus, Mariell Hoffmann, Justus Tönnies, Michel Wensing, Joachim Szecseny… , 04 January 2023. - 10 S.
In: BMC health services research, ISSN 1472-6963. 23(2023), Artikel-ID 9, Seite 1-10
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Iuso, Arcangela: A homozygous splice site mutation in SLC25A42, encoding the mitochondrial transporter of coenzyme A, causes metabolic crises and epileptic encephalopathy / Arcangela Iuso, Bader Alhaddad, Corina Weigel, Urania Kotzaeridou, Elisa Mastantuono, Thomas Schwarz… , 2019. - 7 S.
In: JIMD reports, ISSN 2192-8312. 44(2019), Seite 1-7
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Lenz, Dominic: SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN) / Dominic Lenz, Patricia McClean, Aydan Kansu, Penelope E. Bonnen, Giusy Ranucci, Christian Thiel, Bea… , 08 February 2018. - 11 S.
In: Genetics in medicine, ISSN 1530-0366. 20(2018), 10, Seite 1255-1265
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Puusepp, Sanna: Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency / Sanna Puusepp, Reka Kovacs-Nagy, Bader Alhaddad, Matthias Braunisch, Georg F. Hoffmann, Urania Kotza… , 17 January 2018. - 13 S.
In: European journal of human genetics, ISSN 1476-5438. 26(2018), 3, Seite 407-419
DOI: 10.1038/s41431-017-0001-6
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Hegel, Georg Wilhelm Friedrich: 200 Jahre Hegels "Grundlinien der Philosophie des Rechts" / herausgegeben von Klaus Vieweg, Benno Zabel, Eberhard Eichenhofer, Stephan Kirste, Michael Pawlik, H… . -
Berlin: Duncker & Humblot, [2022]. - 260 Seiten, ISBN 978-3-428-18302-9
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Richard, Elodie M.: Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss / Elodie M. Richard, Somayeh Bakhtiari, Ashley P.L. Marsh, Rauan Kaiyrzhanov, Matias Wagner, Sheetal S… , 7 October 2021. - 11 S.
In: The American journal of human genetics, ISSN 1537-6605. 108(2021), 10, Seite 2006-2016
DOI: 10.1016/j.ajhg.2021.08.003
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Haun, Markus W.: Health providers’ experiences with mental health specialist video consultations in primary care : a qualitative study nested within a randomised feasibility trial / Markus W. Haun, Mariell Hoffmann, Alina Wildenauer, Justus Tönnies, Michel Wensing, Joachim Szecseny… , 2021. - 8 S.
In: BMJ open, ISSN 2044-6055. 11(2021), 11, Artikel-ID e047829, Seite 1-8
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Tessadori, Federico: Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome / Federico Tessadori, Karen Duran, Karen Knapp, Matthias Fellner, Sarah Smithson, Ana Beleza Meireles,… , April 7, 2022. - 9 S.
In: The American journal of human genetics, ISSN 1537-6605. 109(2022), 4, Seite 750-758
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Haack, Tobias: Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy / Tobias B. Haack, Christian Staufner, Marlies G. Köpke, Beate K. Straub, Stefan Kölker, Christian Thi… , 11 June 2015. - 7 S.
In: The American journal of human genetics, ISSN 1537-6605. 97(2015), 1, Seite 163-169
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Haute, Lindsey van: Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3 / Lindsey Van Haute, Sabine Dietmann, Laura Kremer, Shobbir Hussain, Sarah F. Pearce, Christopher A. P… , 30 Jun 2016. - 10 S.
In: Nature Communications, ISSN 2041-1723. 7(2016) Article number: 12039, 10 Seiten
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Kopajtich, Robert: Biallelic IARS mutations cause growth retardation with prenatal onset, intellectual disability, muscular hypotonia, and infantile hepatopathy / Robert Kopajtich, Kei Murayama, Andreas R. Janecke, Tobias B. Haack, Maximilian Breuer, A.S. Knisely… . - 9 S.
In: The American journal of human genetics, ISSN 1537-6605. 99(2016), 2, S. 414-422
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Evers, Christina: Impact of clinical exomes in neurodevelopmental and neurometabolic disorders / Christina Evers, Christian Staufner, Martin Granzow, Nagarajan Paramasivam, Katrin Hinderhofer, Lili… . - 11 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 121(2017), 4, S. 297-307
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Staufner, Christian: Recurrent acute liver failure due to NBAS deficiency : phenotypic spectrum, disease mechanisms, and therapeutic concepts / Christian Staufner, Tobias B. Haack, Marlies G. Köpke, Beate K. Straub, Stefan Kölker, Christian Thi… , 2016. - 14 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 39(2016), 1, Seite 3-16
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Haack, Tobias: Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening / Tobias B. Haack, Matteo Gorza, Katharina Danhauser, Johannes A. Mayr, Birgit Haberberger, Thomas Wie… , 2014. - 11 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 111(2014), 3, Seite 342-352
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Haack, Tobias: Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement / Tobias B. Haack, Christopher B. Jackson, Kei Murayama, Laura S. Kremer, André Schaller, Urania Kotza… , 13 March 2015. - 18 S.
In: Annals of Clinical and Translational Neurology, ISSN 2328-9503. 2(2015), 5, Seite 492-509
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Scorrano, Giovanna: A PAK1 mutational hotspot within the regulatory CRIPaK domain is associated with severe neurodevelopmental disorders in children / Giovanna Scorrano, MD, Gianluca D'Onofrio, MD, Andrea Accogli, MD, Mariasavina Severino, MD, Rebecca… , December 2023. - 9 S. : Illustrationen
In: Pediatric neurology, ISSN 1873-5150. 149(2023) vom: Dez., Seite 84-92
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Haun, Markus W.: Mental health specialist video consultations for patients with somatic symptom disorder in primary care : protocol for a randomised feasibility trial (the VISION trial) / Markus W. Haun, Justus Tönnies, Leike Graue, Mechthild Hartmann, Michel Wensing, Joachim Szecsenyi, … , April 11, 2022. - 10 S.
In: BMJ open, ISSN 2044-6055. 12(2022), 4 vom: Apr., Artikel-ID e058150, Seite 1-10
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Monzer, Nelly Lou: The cardiac autonomic response to acute psychological stress in type 2 diabetes / Nelly Lou Monzer, Mechthild Hartmann, Magdalena Buckert, Kira Wolff, Peter Nawroth, Stefan Kopf, Zol… , 18 March 2022. - 14 S.
In: PLOS ONE, ISSN 1932-6203. 17(2022), 3, Artikel-ID e0265234, Seite 1-14
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Schakowski, Alexander: The inventory of complicated grief : a systematic psychometric review and conceptual replication study of the structural validity / Alexander Schakowski, Justus Tönnies, Hans-Christoph Friederich, Mechthild Hartmann, and Markus W. H… . -
Thousand Oaks, Calif.: Sage Publ., 12 Jun. 2023. - 1 Online-Ressource (17 Seiten)
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Salter, Claire G.: Biallelic PI4KA variants cause neurological, intestinal and immunological disease / Claire G. Salter, Yiying Cai, Bernice Lo, Guy Helman, Henry Taylor, Amber McCartney, Joseph S. Lesli… , August 20, 2021. - 14 S.
In: Brain, ISSN 1460-2156. 144(2021), 12, Seite 3597-3610
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