Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
Material Type: Capítulo de Livro
|
Mindfulness Is in the Eye of the MachineLachaud, Léa ; Tissier, Geoffrey ; Ballenghein, UgoFrontiers in psychology, 2024, Vol.14522, p.223-239 [Periódico revisado por pares]Frontiers MediaTexto completo disponível |
|
2 |
Material Type: Capítulo de Livro
|
Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene MutationsAngelini, Corrado ; Tavian, Daniela ; Missaglia, Sara Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, MatthiasJIMD Reports, Volume 38, 2018, Vol.38, p.33-40 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
|
3 |
Material Type: Capítulo de Livro
|
Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking AheadPyhtila, Brook M. ; Shaw, Kelly A. ; Neumann, Samantha E. ; Fridovich-Keil, Judith L. Peters, Verena ; Gibson, K. Michael ; Zschocke, Johannes ; Brown, Garry ; Morava, EvaJIMD Reports, Volume 15, 2015, Vol.15, p.79-93 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
|
4 |
Material Type: Capítulo de Livro
|
The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed PatientsVals, Mari-Anne ; Pajusalu, Sander ; Kals, Mart ; Mägi, Reedik ; Õunap, Katrin Peters, Verena ; Baumgartner, Matthias ; Patterson, Marc ; Morava, Eva ; Zschocke, Johannes ; Rahman, ShamimaJIMD Reports, Volume 39, 2018, Vol.39, p.13-17 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
|
5 |
Material Type: Capítulo de Livro
|
Mortality in Patients with Morquio Syndrome ALavery, Christine ; Hendriksz, Chris Peters, Verena ; Gibson, K. Michael ; Zschocke, Johannes ; Brown, Garry ; Morava, EvaJIMD Reports, Volume 15, 2015, Vol.15, p.59-66 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
|
6 |
Material Type: Capítulo de Livro
|
Demographic and Psychosocial Influences on Treatment Adherence for Children and Adolescents with PKU: A Systematic ReviewMedford, Emma ; Hare, Dougal Julian ; Wittkowski, Anja Peters, Verena ; Baumgartner, Matthias ; Patterson, Marc ; Morava, Eva ; Zschocke, Johannes ; Rahman, ShamimaJIMD Reports, Volume 39, 2018, Vol.39, p.107-116 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
|
7 |
Material Type: Capítulo de Livro
|
Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent SymptomsMarsden, Joanne T. ; Guppy, Simon ; Stein, Penelope ; Cox, Timothy M. ; Badminton, Michael ; Gardiner, Tricia ; Barth, Julian H. ; Stewart, M. Felicity ; Rees, David C. Patterson, Marc ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Morava, Eva ; Rahman, ShamimaJIMD Reports, Volume 22, 2015, Vol.22, p.57-65 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
|
8 |
Material Type: Capítulo de Livro
|
Natural History of Aromatic l-Amino Acid Decarboxylase Deficiency in TaiwanHwu, Wuh-Liang ; Chien, Yin-Hsiu ; Lee, Ni-Chung ; Li, Mei-Hsin Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, MatthiasJIMD Reports, Volume 40, 2018, Vol.40, p.1-6 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
|
9 |
Material Type: Capítulo de Livro
|
Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) DeficiencyAttri, Savita Verma ; Singhi, Pratibha ; Wiwattanadittakul, Natrujee ; Goswami, Jyotindra N. ; Sankhyan, Naveen ; Salomons, Gajja S. ; Roullett, Jean-Baptiste ; Hodgeman, Ryan ; Parviz, Mahsa ; Gibson, K. Michael ; Pearl, Phillip L. Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, MatthiasJIMD Reports, Volume 34, 2017, Vol.34, p.111-115 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
|
10 |
Material Type: Capítulo de Livro
|
First Successful Conception Induced by a Male Cystinosis PatientVeys, Koenraad R. ; D’Hauwers, Kathleen W. ; van Dongen, Angelique J. C. M. ; Janssen, Mirian C. ; Besouw, Martine T. P. ; Goossens, Ellen ; van den Heuvel, Lambert P. ; Wetzels, Alex A. M. M. ; Levtchenko, Elena N. Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, MatthiasJIMD Reports, Volume 38, 2018, Vol.38, p.1-6 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |