12 results on '"Zagairy, Fadia"'
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2. Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy
3. Potential di‐genic contribution to guttate leukoderma as the predominant feature of epidermolysis bullosa simplex
4. A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia
5. A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia.
6. Concomitant variants in NF1 , LZTR1 and GNAZ genes probably contribute to the aggressiveness of plexiform neurofibroma and warrant treatment with MEK inhibitor
7. Parental mosaic cutaneous‐gonadal GJB2 mutation: From epidermal nevus to inherited ichthyosis‐deafness syndrome
8. A homozygous variant in CHMP3is associated with complex hereditary spastic paraplegia
9. Concomitant variants in NF1, LZTR1 and GNAZ genes probably contribute to the aggressiveness of plexiform neurofibroma and warrant treatment with MEK inhibitor.
10. Parental mosaic cutaneous‐gonadal GJB2 mutation: From epidermal nevus to inherited ichthyosis‐deafness syndrome.
11. Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy
12. The Nuclear Pore Complex and Nuclear Transport
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