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- Hempel, Maja
- Bierhals, Tatjana 11
- Johannsen, Jessika 10
- Denecke, Jonas 9
- Kloth, Katja 6
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39 Einträge gefunden
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Expanding the clinical spectrum of COL2A1 related disorders by a MASS like phenotype
- Demal, Till Joscha
- Scholz, Tasja
- Schüler, Helke
- Olfe, Jakob
- Fröhlich, Anja
- Speth, Fabian
- von Kodolitsch, Yskert
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The Epidemiology behind Pectus Excavatum: Clinical Study and Review of the Literature
- Kloth, Katja
- Klohs, Stefan
- Bhullar, Jasmin
- Boettcher, Michael
- Hempel, Maja
- Trah, Julian
- Reinshagen, Konrad
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The natural history of Canavan disease: 23 new cases and comparison with patients from literature
- Bley, Annette
- Denecke, Jonas
- Kohlschütter, Alfried
- Schön, Gerhard
- Hischke, Sandra
- Guder, Philipp
- Bierhals, Tatjana
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Der besondere Fall: Genetisches Aortensyndrom
- Schüler, Helke
- Neumann, Johannes Tobias
- Wipper, Sabine
- Kölbel, Tilo
- Hempel, Maja
- Osterwald, Anna Lena
- Püschel, Klaus
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Fatal COVID-19 in a Child with Persistence of SARS-CoV-2 Despite Extensive Multidisciplinary Treatment: A Case Report
- Apostolidou, Sofia
- Harbauer, Theresa
- Lasch, Peter
- Biermann, Daniel
- Hempel, Maja
- Lütgehetmann, Marc
- Pfefferle, Susanne
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TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram/ulnar-mammary syndrome phenotype
- Cenni, Camille
- Andres, Stephanie
- Hempel, Maja
- Strom, Tim M
- Thomas, Ellen
- Davies, Angela
- Timoney, Norma
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Hirschsprung Disease - Clinical Relevance of RET Mutations
2021 - Forschungsinformationssystem des UKE -
Exome sequencing in children and adolescents with rare diseases:Current situation, challenges, perspectives, Exomsequenzierung bei Kindern und Jugendlichen mit seltenen Erkrankungen:Aktueller Stand, Herausforderungen, Perspektiven
- Scholz, Tasja
- Dufke, Andreas
- Haack, Tobias
- Elbracht, Miriam
- Eggermann, Thomas
- Roggia, Cristiana
- Riess, Olaf
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Dominant KPNA3 Mutations Cause Infantile Onset Hereditary Spastic Paraplegia
- Schob, Claudia
- Hempel, Maja
- Brozkova, Dana Safka
- Jiang, Huafang
- Kim, Soo Yeon
- Batzir, Nurit Assia
- Orenstein, Naama
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Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency
2020 - Forschungsinformationssystem des UKE -
A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions
- Coste de Bagneaux, Pierre
- von Elsner, Leonie
- Bierhals, Tatjana
- Campiglio, Marta
- Johannsen, Jessika
- Obermair, Gerald J
- Hempel, Maja
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POLR3A variants with striatal involvement and extrapyramidal movement disorder
- Harting, Inga
- Al-Saady, Murtadha
- Krägeloh-Mann, Ingeborg
- Bley, Annette
- Hempel, Maja
- Bierhals, Tatjana
- Karch, Stephanie
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16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome
- Kloth, Katja
- Renner, Sina
- Burmester, Gunter
- Steinemann, Doris
- Pabst, Brigitte
- Lorenz, Birgit
- Simon, Ronald
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Phenotype in an Infant with SOD1 Homozygous Truncating Mutation
- Andersen, Peter M
- Nordström, Ulrika
- Tsiakas, Konstantinos
- Johannsen, Jessika
- Volk, Alexander E
- Bierhals, Tatjana
- Zetterström, Per
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Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis
- Burkhalter, Martin D
- Sridhar, Arthi
- Sampaio, Pedro
- Jacinto, Raquel
- Burczyk, Martina S
- Donow, Cornelia
- Angenendt, Max