7 Einträge gefunden

1. de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation

   1. Schneeberger, Pauline E
   2. Bierhals, Tatjana
   3. Neu, Axel
   4. Hempel, Maja
   5. Kutsche, Kerstin

   2019 - Forschungsinformationssystem des UKE - frei zugänglich
2. Phenotype in an Infant with SOD1 Homozygous Truncating Mutation

   1. Andersen, Peter M
   2. Nordström, Ulrika
   3. Tsiakas, Konstantinos
   4. Johannsen, Jessika
   5. Volk, Alexander E
   6. Bierhals, Tatjana
   7. Zetterström, Per

   2019 - Forschungsinformationssystem des UKE
3. 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

   1. Johannsen, Jessika
   2. Bierhals, Tatjana
   3. Deindl, Philipp
   4. Hecher, Laura
   5. Hermann, Katharina
   6. Hempel, Maja
   7. Kloth, Katja

   2019 - Forschungsinformationssystem des UKE
4. Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

   1. Verheije, Rosalind
   2. Kupchik, Gabriel S
   3. Isidor, Bertrand
   4. Kroes, Hester Y
   5. Lynch, Sally Ann
   6. Hawkes, Lara
   7. Hempel, Maja

   2019 - Forschungsinformationssystem des UKE
5. Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects

   1. Filatova, Alina
   2. Rey, Linda K
   3. Lechler, Marion B
   4. Schaper, Jörg
   5. Hempel, Maja
   6. Posmyk, Renata
   7. Szczaluba, Krzysztof

   2019 - Forschungsinformationssystem des UKE - frei zugänglich
6. Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis

   1. Burkhalter, Martin D
   2. Sridhar, Arthi
   3. Sampaio, Pedro
   4. Jacinto, Raquel
   5. Burczyk, Martina S
   6. Donow, Cornelia
   7. Angenendt, Max

   2019 - Forschungsinformationssystem des UKE
7. 16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome

   1. Kloth, Katja
   2. Renner, Sina
   3. Burmester, Gunter
   4. Steinemann, Doris
   5. Pabst, Brigitte
   6. Lorenz, Birgit
   7. Simon, Ronald

   2019 - Forschungsinformationssystem des UKE