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Author/Creator Radhakrishnan, Natasha

1. Biallelic loss‐of‐function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth. Issue 9 (15th July 2020)

Authors:
Harms, Frederike L.; Parthasarathy, Padmini; Zorndt, Dennis; Alawi, Malik; Fuchs, Sigrid; Halliday, Benjamin J.; McKeown, Colina; Sampaio, Hugo; Radhakrishnan, Natasha; Radhakrishnan, Suresh K.; Gorce, Magali; Navet, Benjamin; Ziegler, Alban; Sachdev, Rani; Robertson, Stephen P.; Nampoothiri, She...
Journal:
Human mutation
Issue:
Volume 41:Issue 9(2020)
Page Start:
1645
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia. Issue 12 (4th December 2018)

Authors:
Stephen, Joshi; Nampoothiri, Sheela; Kuppa, Srikar; Yesodharan, Dhanya; Radhakrishnan, Natasha; Gahl, William A.; Malicdan, May Christine V.
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 12(2018)
Page Start:
2930
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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