Kết quả tìm kiếm - David Meili
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1
Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene Bằng Dea Adamsen, V. Ramaekers, Horace T. B. Ho, Corinne Britschgi, Véronique Rüfenacht, David Meili, Elise Bobrowski, Philippe Paule, Caroline Nava, Lionel Van Maldergem, Rémy Bruggmann, Susanne Walitza, Joanne Wang, Edna Grünblatt, Beat Thöny
Được phát hành 2014Artigo -
2
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability Bằng Yair Anikster, Tobias B. Haack, Thierry Vilboux, Ben Pode‐Shakked, Beat Thöny, Nan Shen, Virgínia Guarani, Thomas Meißner, Ertan Mayatepek, Friedrich K. Trefz, Dina Marek‐Yagel, Aurora Martı́nez, Edward L. Huttlin, João A. Paulo, Riccardo Berutti, Jean‐François Benoist, Apolline Imbard, Imen Dorboz, Gali Heimer, Yuval E. Landau, Limor Ziv-Strasser, May Christine V. Malicdan, Corinne Gemperle-Britschgi, Kirsten Cremer, Hartmut Engels, David Meili, Irene Keller, Rémy Bruggmann, Tim M. Strom, Thomas Meitinger, James C. Mullikin, Gerard Schwartz, Bruria Ben‐Zeev, William A. Gahl, J. Wade Harper, Nenad Blau, Georg F. Hoffmann, Holger Prokisch, Thomas Opladen, Manuel Schiff
Được phát hành 2017Artigo
Công cụ tìm kiếm:
Các môn học liên quan
Biology
Gene
Genetics
Internal medicine
Medicine
Mutation
Receptor
Serotonin
Amino acid
Autism
Autism spectrum disorder
Biochemistry
Dopamine
Dopamine transporter
Dystonia
Endocrinology
Exome sequencing
Hyperphenylalaninemia
Inborn error of metabolism
Monoamine neurotransmitter
Neuroscience
Nitric oxide
Nitric oxide synthase
Phenylalanine
Phenylalanine hydroxylase
Phenylketonurias
Psychiatry
Serotonergic
Serotonin transporter
Tetrahydrobiopterin