Concepedia
Author
Naemeh Nayebzadeh
Also Known As
3
Publications
72
Citations
2
H-Index
0
Concepts
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All Concepts
71
Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction
Meri Kaustio, Naemeh Nayebzadeh, Reetta Hinttala, +34
Journal of Allergy and Clinical Immunology
2021
47
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)
Elisa Rahikkala, Matti Myllykoski, Reetta Hinttala, +23
Genetics in Medicine
2019
24
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