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Medientyp
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Erscheinungsjahr
Autor/in
- 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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Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant
- Johannsen, Jessika
- Bierhals, Tatjana
- Deindl, Philipp
- Hecher, Laura
- Hermann, Katharina
- Hempel, Maja
- Kloth, Katja
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Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects
- Filatova, Alina
- Rey, Linda K
- Lechler, Marion B
- Schaper, Jörg
- Hempel, Maja
- Posmyk, Renata
- Szczaluba, Krzysztof
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de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation
2019 - Forschungsinformationssystem des UKE - frei zugänglich -
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Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder
- Harms, Frederike L
- Kloth, Katja
- Bley, Annette
- Denecke, Jonas
- Santer, René
- Lessel, Davor
- Hempel, Maja
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Recessive mutations in >VPS13D cause childhood-onset movement disorders
- Gauthier, Julie
- Meijer, Inge A
- Lessel, Davor
- Mencacci, Niccolò E
- Krainc, Dimitri
- Hempel, Maja
- Tsiakas, Konstantinos
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Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
- Oud, Machteld M
- Tuijnenburg, Paul
- Hempel, Maja
- van Vlies, Naomi
- Ren, Zemin
- Ferdinandusse, Sacha
- Jansen, Machiel H
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Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1
- Said, Edith
- Chong, Jessica X
- Hempel, Maja
- Denecke, Jonas
- Soler, Paul
- Strom, Tim
- Nickerson, Deborah A
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Exome Sequencing is a Valuable Approach in Critically Ill Patients with Suspected Monogenic Disease: Diagnosis of X-linked Centronuclear Myopathy in Preterm Twins
2017 - Forschungsinformationssystem des UKE - frei zugänglich -
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Sternumaplasie (Sternal Cleft).
- Gerling, Jana
- Boettcher, Michael
- Mietzsch, Stefan
- Pawlik, Mareike
- Klaassen, Ilka Alena
- Hempel, Maja
- Reinshagen, Konrad
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Phenotypic and molecular insights into CASK-related disorders in males
- Moog, Ute
- Bierhals, Tatjana
- Brand, Kristina
- Bautsch, Jan
- Biskup, Saskia
- Brune, Thomas
- Denecke, Jonas
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De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment
- Hempel, Maja
- Cremer, Kirsten
- Ockeloen, Charlotte W
- Lichtenbelt, Klaske D
- Herkert, Johanna C
- Denecke, Jonas
- Haack, Tobias B