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Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.
Klöckner C, Fernández-Murray JP, Tavasoli M, Sticht H, Stoltenburg-Didinger G, Scholle LM, Bakhtiari S, Kruer MC, Darvish H, Firouzabadi SG, Pagnozzi A, Shukla A, Girisha KM, Narayanan DL, Kaur P, Maroofian R, Zaki MS, Noureldeen MM, Merkenschlager A, Gburek-Augustat J, Cali E, Banu S, Nahar K, Efthymiou S, Houlden H, Jamra RA, Williams J, McMaster CR, Platzer K. Klöckner C, et al. Among authors: girisha km. Brain. 2022 Jun 30;145(6):1916-1923. doi: 10.1093/brain/awac074. Brain. 2022. PMID: 35202461 Free PMC article.
What does fetal autopsy unmask in oligohydramnios?
Nayak SS, Shukla A, Kodandapani S, Adiga PK, Girisha KM. Nayak SS, et al. Among authors: girisha km. J Matern Fetal Neonatal Med. 2016;29(14):2347-51. doi: 10.3109/14767058.2015.1085021. Epub 2015 Sep 18. J Matern Fetal Neonatal Med. 2016. PMID: 26381033 Free article.
Spectrum of urorectal septum malformation sequence.
Shah K, Nayak SS, Shukla A, Girisha KM. Shah K, et al. Among authors: girisha km. Congenit Anom (Kyoto). 2016 May;56(3):119-26. doi: 10.1111/cga.12149. Congenit Anom (Kyoto). 2016. PMID: 26663027
Congenital omphalocele and cleft palate in two fetuses.
Upadhyay N, Pai MV, Nayak SS, Girisha KM, Shukla A. Upadhyay N, et al. Among authors: girisha km. Congenit Anom (Kyoto). 2016 Jul;56(4):190-1. doi: 10.1111/cga.12158. Congenit Anom (Kyoto). 2016. PMID: 26867152 No abstract available.
Metatropic Dysplasia with a Novel Mutation in TRPV4.
Narayanan DL, Bhavani GS, Girisha KM, Phadke SR. Narayanan DL, et al. Among authors: girisha km. Indian Pediatr. 2016 Aug 8;53(8):735-7. doi: 10.1007/s13312-016-0921-1. Indian Pediatr. 2016. PMID: 27567651 Free article.
287 results