9 Einträge gefunden

1. Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients

   1. Staufner, Christian
   2. Peters, Bianca
   3. Wagner, Matias
   4. Alameer, Seham
   5. Barić, Ivo
   6. Broué, Pierre
   7. Bulut, Derya

   2020 - Forschungsinformationssystem des UKE
2. Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases

   1. Maas, Roeltje R
   2. Iwanicka-Pronicka, Katarzyna
   3. Kalkan Ucar, Sema
   4. Alhaddad, Bader
   5. AlSayed, Moeenaldeen
   6. Al-Owain, Mohammed A
   7. Al-Zaidan, Hamad I

   2017 - Forschungsinformationssystem des UKE
3. Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders

   1. Jamiolkowski, Dagmar
   2. Kölker, Stefan
   3. Glahn, Esther M
   4. Barić, Ivo
   5. Zeman, Jiri
   6. Baumgartner, Matthias R
   7. Mühlhausen, Chris

   2016 - Forschungsinformationssystem des UKE
4. Hyperinsulinism-hyperammonemia Syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature

   1. Ninković, Dorotea
   2. Sarnavka, Vladimir
   3. Bašnec, Anica
   4. Ćuk, Mario
   5. Ramadža, Danijela Petković
   6. Fumić, Ksenija
   7. Kušec, Vesna

   2016 - Forschungsinformationssystem des UKE
5. Impact of age at onset and newborn screening on outcome in organic acidurias

   1. Heringer, Jana
   2. Valayannopoulos, Vassili
   3. Lund, Allan M
   4. Wijburg, Frits A
   5. Freisinger, Peter
   6. Barić, Ivo
   7. Baumgartner, Matthias R

   2016 - Forschungsinformationssystem des UKE
6. Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome

   1. Wortmann, Saskia B
   2. van Hasselt, Peter M
   3. Barić, Ivo
   4. Burlina, Alberto
   5. Darin, Niklas
   6. Hörster, Friederike
   7. Coker, Mahmut

   2015 - Forschungsinformationssystem des UKE
7. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

   1. Kölker, Stefan
   2. Valayannopoulos, Vassili
   3. Burlina, Alberto B
   4. Sykut-Cegielska, Jolanta
   5. Wijburg, Frits A
   6. Teles, Elisa Leão
   7. Zeman, Jiri

   2015 - Forschungsinformationssystem des UKE
8. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

   1. Kölker, Stefan
   2. Cazorla, Angeles Garcia
   3. Valayannopoulos, Vassili
   4. Lund, Allan M
   5. Burlina, Alberto B
   6. Sykut-Cegielska, Jolanta
   7. Wijburg, Frits A

   2015 - Forschungsinformationssystem des UKE
9. Glyceroluria and neonatal hemochromatosis.

   1. Barić, Ivo
   2. Zibar, Karin
   3. Ćorić, Marijana
   4. Santer, René
   5. Bonilla, Silvana
   6. Bilić, Karmen
   7. Buljević, Andrea Dasović

   2012 - Forschungsinformationssystem des UKE