6 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. Defining the Spectrum, Treatment and Outcome of Patients With Genetically Confirmed Gorlin Syndrome From the HIT-MED Cohort

   1. Kloth, Katja
   2. Obrecht, Denise
   3. Sturm, Dominik
   4. Pietsch, Torsten
   5. Warmuth-Metz, Monika
   6. Bison, Brigitte
   7. Mynarek, Martin

   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. ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

   1. Kloth, Katja
   2. Lozic, Bernarda
   3. Tagoe, Julia
   4. Hoffer, Mariëtte J V
   5. Van der Ven, Amelie
   6. Thiele, Holger
   7. Altmüller, Janine

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
5. Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2

   1. Kloth, Katja
   2. Neu, Axel
   3. Rau, Isabella
   4. Hülsemann, Wiebke
   5. Kutsche, Kerstin
   6. Volk, Alexander E

   2021 - Forschungsinformationssystem des UKE
6. 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