Works by Kohlschmidt, Nicolai

Results: 20
    1

    Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study.

    Published in:
    2020
    By:
    • Cöktü, Sümeyye;
    • Spix, Claudia;
    • Kaiser, Melanie;
    • Beygo, Jasmin;
    • Kleinle, Stephanie;
    • Bachmann, Nadine;
    • Kohlschmidt, Nicolai;
    • Prawitt, Dirk;
    • Beckmann, Alf;
    • Klaes, Ruediger;
    • Nevinny-Stickel-Hinzpeter, Claudia;
    • Döhnert, Steffi;
    • Kraus, Cornelia;
    • Kadgien, Gundula;
    • Vater, Inga;
    • Biskup, Saskia;
    • Kutsche, Michael;
    • Kohlhase, Jürgen;
    • Eggermann, Thomas;
    • Zenker, Martin
    Publication type:
    journal article
    2

    Clinical presentation and proteomic signature of patients with TANGO2 mutations.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 297, doi. 10.1002/jimd.12156
    By:
    • Mingirulli, Nadja;
    • Pyle, Angela;
    • Hathazi, Denisa;
    • Alston, Charlotte L.;
    • Kohlschmidt, Nicolai;
    • O'Grady, Gina;
    • Waddell, Leigh;
    • Evesson, Frances;
    • Cooper, Sandra B. T.;
    • Turner, Christian;
    • Duff, Jennifer;
    • Topf, Ana;
    • Yubero, Delia;
    • Jou, Cristina;
    • Nascimento, Andrés;
    • Ortez, Carlos;
    • García‐Cazorla, Angels;
    • Gross, Claudia;
    • O'Callaghan, Maria;
    • Santra, Saikat
    Publication type:
    Article
    3
    4

    Molecular pathophysiology of human MICU1 deficiency.

    Published in:
    Neuropathology & Applied Neurobiology, 2021, v. 47, n. 6, p. 840, doi. 10.1111/nan.12694
    By:
    • Kohlschmidt, Nicolai;
    • Elbracht, Miriam;
    • Czech, Artur;
    • Häusler, Martin;
    • Phan, Vietxuan;
    • Töpf, Ana;
    • Huang, Kai‐Ting;
    • Bartok, Adam;
    • Eggermann, Katja;
    • Zippel, Stephanie;
    • Eggermann, Thomas;
    • Freier, Erik;
    • Groß, Claudia;
    • Lochmüller, Hanns;
    • Horvath, Rita;
    • Hajnóczky, György;
    • Weis, Joachim;
    • Roos, Andreas
    Publication type:
    Article
    5
    6
    7

    Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.

    Published in:
    Human Mutation, 2006, v. 27, n. 8, p. 748, doi. 10.1002/humu.20349
    By:
    • Stadler, Sonja C.;
    • Polanetz, Roman;
    • Maier, Esther M.;
    • Heidenreich, Sylvia C.;
    • Niederer, Birgit;
    • Mayerhofer, Peter U.;
    • Lagler, Florian;
    • Koch, Hans-Georg;
    • Santer, René;
    • Fletcher, Janice M.;
    • Ranieri, Enzo;
    • Das, Anibh M.;
    • Spiekerkötter, Ute;
    • Schwab, Karl O.;
    • Pötzsch, Simone;
    • Marquardt, Iris;
    • Hennermann, Julia B.;
    • Knerr, Ina;
    • Mercimek-Mahmutoglu, Saadet;
    • Kohlschmidt, Nicolai
    Publication type:
    Article
    8
    9
    10

    Correction: A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function.

    Published in:
    2023
    By:
    • Hentschel, Andreas;
    • Meyer, Nancy;
    • Kohlschmidt, Nicolai;
    • Groß, Claudia;
    • Sickmann, Albert;
    • Schara-Schmidt, Ulrike;
    • Förster, Fabian;
    • Töpf, Ana;
    • Christiansen, Jon;
    • Horvath, Rita;
    • Vorgerd, Matthias;
    • Thompson, Rachel;
    • Polavarapu, Kiran;
    • Lochmüller, Hanns;
    • Preusse, Corinna;
    • Hannappel, Luis;
    • Schänzer, Anne;
    • Grüneboom, Anika;
    • Gangfuß, Andrea;
    • Roos, Andreas
    Publication type:
    Correction Notice
    11

    A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function.

    Published in:
    Molecular Neurobiology, 2023, v. 60, n. 5, p. 2602, doi. 10.1007/s12035-023-03219-9
    By:
    • Hentschel, Andreas;
    • Meyer, Nancy;
    • Kohlschmidt, Nicolai;
    • Groß, Claudia;
    • Sickmann, Albert;
    • Schara-Schmidt, Ulrike;
    • Förster, Fabian;
    • Töpf, Ana;
    • Christiansen, Jon;
    • Horvath, Rita;
    • Vorgerd, Matthias;
    • Thompson, Rachel;
    • Polavarapu, Kiran;
    • Lochmüller, Hanns;
    • Preusse, Corinna;
    • Hannappel, Luis;
    • Schänzer, Anne;
    • Grüneboom, Anika;
    • Gangfuß, Andrea;
    • Roos, Andreas
    Publication type:
    Article
    12
    13

    Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment.

    Published in:
    Human Molecular Genetics, 2009, v. 18, n. 4, p. 655, doi. 10.1093/hmg/ddn395
    By:
    • Schneider, Eberhard;
    • Märker, Tina;
    • Daser, Angelika;
    • Frey-Mahn, Gabriele;
    • Beyer, Vera;
    • Farcas, Ruxandra;
    • Schneider-Rätzke, Brigitte;
    • Kohlschmidt, Nicolai;
    • Grossmann, Bärbel;
    • Bauss, Katharina;
    • Napiontek, Ulrike;
    • Keilmann, Annerose;
    • Bartsch, Oliver;
    • Zechner, Ulrich;
    • Wolfrum, Uwe;
    • Haaf, Thomas
    Publication type:
    Article
    14
    15

    Protokoll.

    Published in:
    Medizinische Genetik, 2018, v. 30, n. 1, p. 62
    By:
    • Kohlschmidt, Nicolai;
    • Liehr, Thomas
    Publication type:
    Article
    16
    17
    18

    Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 10, p. 4200, doi. 10.1093/brain/awad152
    By:
    • Roos, Andreas;
    • Ven, Peter F M van der;
    • Alrohaif, Hadil;
    • Kölbel, Heike;
    • Heil, Lorena;
    • Marina, Adela Della;
    • Weis, Joachim;
    • Aßent, Marvin;
    • Beck-Wödl, Stefanie;
    • Barresi, Rita;
    • Töpf, Ana;
    • O'Connor, Kaela;
    • Sickmann, Albert;
    • Kohlschmidt, Nicolai;
    • Gizouli, Magdeldin El;
    • Meyer, Nancy;
    • Daya, Nassam;
    • Grande, Valentina;
    • Bois, Karin;
    • Kaiser, Frank J
    Publication type:
    Article
    19

    Revision of the "Guideline of the German Medical Association on Quality Assurance in Medical Laboratory Examinations – Rili-BAEK".

    Published in:
    Journal of Laboratory Medicine, 2024, v. 48, n. 6, p. 263, doi. 10.1515/labmed-2024-0131
    By:
    • Ahmad-Nejad, Parviz;
    • Bauersfeld, Walter;
    • Baum, Hannsjörg;
    • Behre, Hermann M.;
    • Burkhardt, Ralph;
    • Cassens, Uwe;
    • Ceglarek, Uta;
    • Christmann, Martin;
    • Cremers, Jann-Frederik;
    • Diedrich, Sabine;
    • Döring, Sybille;
    • Gässler, Norbert;
    • Haase, Gerhard;
    • Haselmann, Verena;
    • Hofmann, Jörg;
    • Holdenrieder, Stefan;
    • Hübner, Marc P.;
    • Hunfeld, Klaus-Peter;
    • Huzly, Daniela;
    • Kohlschmidt, Nicolai
    Publication type:
    Article
    20