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Authors
- Fattahi, Zohreh
- Garshasbi, Masoud
- Gijsen, Sabine
- Gilissen, Christian
- Hu, Hao
- Iqbal, Zafar
- Kahrizi, Kimia
- Khan, Shaheen N
- Kleefstra, Tjitske
- Kwint, Michael P
- Lefeber, Dirk J
- Musante, Luciana
- Razzaq, Attia
- Riazuddin, Sheikh
- Shahzad, Mohsin
- Veltman, Joris A
- Vissers, Lisenka E L M
- Zahoor, Muhammad Yasir
- de Brouwer, Arjan P M
- van Bokhoven, Hans
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Topics
- Adult
- Amino Acid Sequence
- Child
- Chromosome Mapping
- Chromosomes, Human, Pair 2
- Computer Simulation
- Congenital Disorders of Glycosylation
- Consanguinity
- Cytokines
- DNA Mutational Analysis
- Exome
- Female
- Homozygote
- Humans
- Intellectual Disability
- Male
- Mutation, Missense
- Pedigree
- genetics
- methods
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