Medizinisch Genetisches Zentrum (MGZ) / Medical Genetics Center

Industry / private company


Location: München, Germany (DE) DE

ISNI: 0000000097389673

ROR: https://ror.org/027nwsc63

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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Translation
Thesis
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

Publication year

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Abstract

Journal

Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35) (2023) German A, Jukic J, Laner A, Arnold P, Socher E, Mennecke A, Schmidt M, et al. Journal article Epidemiology, risk factors, and genetics of endometrial cancer (2022) Tempfer C, Steinke-Lange V, Aretz S, Schmutzler R, Ortmann O, Roemer T, Hanf V, et al. Journal article Rare intronic mutation between Exon 62 and 63 (c.9225–285A>G) of the dystrophin gene associated with atypical BMD phenotype (2020) Schüssler SC, Gerhalter T, Abicht A, Müller-Felber W, Nagel AM, Trollmann R Journal article Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study (2020) Cöktü S, Spix C, Kaiser M, Beygo J, Kleinle S, Bachmann N, Kohlschmidt N, et al. Journal article Diagnostics of rare diseases with next generation sequencing—arrived at the patients or rejected? Diagnostik seltener Erkrankungen mit „next generation sequencing“ – angekommen oder abgewehrt? (2019) Abicht A, Neuhann T, Mehnert L, Rost I, Wiesmann da Silva Reis A, Zweier C, Holinski-Feder E Journal article, Review article Interdisciplinary Diagnosis, Therapy and Follow-up of Patients with Endometrial Cancer. Guideline (S3-Level, AWMF Registry Number 032/034-OL, April 2018) - Part 2 with Recommendations on the Therapy and Follow-up of Endometrial Cancer, Palliative Care, Psycho-oncological/Psychosocial Care/Rehabilitation/Patient Information and Healthcare Facilities (2018) Emons G, Steiner E, Vordermark D, Uleer C, Bock N, Paradies K, Ortmann O, et al. Journal article Interdisciplinary Diagnosis, Therapy and Follow-up of Patients with Endometrial Cancer. Guideline (S3-Level, AWMF Registry Nummer 032/034-OL, April 2018) - Part 1 with Recommendations on the Epidemiology, Screening, Diagnosis and Hereditary Factors of Endometrial Cancer (2018) Emons G, Steiner E, Vordermark D, Uleer C, Bock N, Paradiess K, Ortmann O, et al. Journal article Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I (2011) Rotthier A, Penno A, Rautenstrauss B, Auer-Grumbach M, Stettner GM, Asselbergh B, Van Hoof K, et al. Journal article Phenotypic variability in a large Czech family with a Dynamin 2-associated Charcot-Marie-Tooth neuropathy (2011) Haberlova J, Mazanec R, Ridzon P, Barankova L, Nuernberg G, Nuernberg P, Sticht H, et al. Journal article