5 Einträge gefunden

1. CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants

   1. Zarate, Yuri A
   2. Uehara, Tomoko
   3. Abe, Kota
   4. Oginuma, Masayuki
   5. Harako, Sora
   6. Ishitani, Shizuka
   7. Lehesjoki, Anna-Elina

   2021 - Forschungsinformationssystem des UKE
2. Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

   1. van der Ven, Amelie T
   2. Johannsen, Jessika
   3. Kortüm, Fanny
   4. Wagner, Matias
   5. Tsiakas, Konstantinos
   6. Bierhals, Tatjana
   7. Lessel, Davor

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
3. Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis

   1. Scholz, Tasja
   2. Blohm, Martin Ernst
   3. Kortüm, Fanny
   4. Bierhals, Tatjana
   5. Lessel, Davor
   6. van der Ven, Amelie T
   7. Lisfeld, Jasmin

   2021 - Forschungsinformationssystem des UKE
4. Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype

   1. Kloth, Katja
   2. Bierhals, Tatjana
   3. Johannsen, Jessika
   4. Harms, Frederike L
   5. Juusola, Jane
   6. Johnson, Mark C
   7. Grange, Dorothy K

   2019 - Forschungsinformationssystem des UKE
5. 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