Risultati della ricerca - Neethukrishna Kausthubham
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1
The homozygous variant c.797G>A/p.(Cys266Tyr) in<i>PISD</i>is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function di Katta M. Girisha, Leonie von Elsner, Neethukrishna Kausthubham, Mamta Muranjan, Anju Shukla, Gandham SriLakshmi Bhavani, Gen Nishimura, Kerstin Kutsche, Geert Mortier
Pubblicazione 2018Artigo -
2
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians di Neethukrishna Kausthubham, Anju Shukla, Neerja Gupta, Gandham SriLakshmi Bhavani, Samarth Kulshrestha, Aneek Das Bhowmik, Amita Moirangthem, Sunita Bijarnia‐Mahay, Madhulika Kabra, Ratna Dua Puri, Kausik Mandal, Ishwar C. Verma, Stephanie Bielas, Shubha R. Phadke, Ashwin Dalal, Katta M. Girisha
Pubblicazione 2021Artigo -
3
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India di Pande, Shruti, Majethia, Purvi, Nair, Karthik, Rao, Lakshmi Priya, Mascarenhas, Selinda, Kaur, Namanpreet, do Rosario, Michelle C., Neethukrishna, Kausthubham, Chaurasia, Ankur, Hunakunti, Bhagesh, Jadhav, Nalesh, Xavier, Sruthy, Kumar, Jeevan, Bhat, Vivekananda, Bhavani, Gandham SriLakshmi, Narayanan, Dhanya Lakshmi, Yatheesha, B. L., Patil, Siddaramappa J., Nampoothiri, Sheela, Kamath, Nutan, Aroor, Shrikiran, Bhat Y, Ramesh, Lewis, Leslie E., Sharma, Suvasini, Bajaj, Shruti, Sankhyan, Naveen, Siddiqui, Shahyan, Nayak, Shalini S., Bielas, Stephanie, Girisha, Katta Mohan, Shukla, Anju
Pubblicazione 2023testo -
4
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia di Chang, Hae Ryung, Cho, Sung Yoon, Lee, Jae Hoon, Lee, Eunkyung, Seo, Jieun, Lee, Hye Ran, Cavalcanti, Denise P., Mäkitie, Outi, Valta, Helena, Girisha, Katta M., Lee, Chung, Neethukrishna, Kausthubham, Bhavani, Gandham S., Shukla, Anju, Nampoothiri, Sheela, Phadke, Shubha R., Park, Mi Jung, Ikegawa, Shiro, Wang, Zheng, Higgs, Martin R., Stewart, Grant S., Jung, Eunyoung, Lee, Myeong-Sok, Park, Jong Hoon, Lee, Eun A., Kim, Hongtae, Myung, Kyungjae, Jeon, Woosung, Lee, Kyoungyeul, Kim, Dongsup, Kim, Ok-Hwa, Choi, Murim, Lee, Han-Woong, Kim, Yonghwan, Cho, Tae-Joon
Pubblicazione 2019testo -
5
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia di Hae Ryung Chang, Sung Yoon Cho, Jae Hoon Lee, Eun‐Kyung Lee, Jieun Seo, Hyeran Lee, Denise P. Cavalcanti, Outi Mäkitie, Helena Valta, Katta M. Girisha, Chung Lee, Neethukrishna Kausthubham, Gandham SriLakshmi Bhavani, Anju Shukla, Sheela Nampoothiri, Shubha R. Phadke, Mi Jung Park, Shiro Ikegawa, Zheng Wang, Martin R. Higgs, Grant S. Stewart, Eun Young Jung, Myeong-Sok Lee, Jong Hoon Park, Eun A Lee, Hongtae Kim, Kyungjae Myung, Woosung Jeon, Kyoungyeul Lee, Dongsup Kim, Ok-Hwa Kim, Murim Choi, Han‐Woong Lee, Yonghwan Kim, Tae‐Joon Cho
Pubblicazione 2019Artigo
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Soggetti correlati
Biology
Exome sequencing
Gene
Genetics
Exome
Mutation
Allele
Allele frequency
Apoptosis
Cell biology
Cohort
Computational biology
Dysplasia
Endocrinology
Environmental health
Inner mitochondrial membrane
Internal medicine
Medicine
Missense mutation
Molecular biology
Phenotype
Phosphorylation
Population
Protein kinase C
Short stature
Staurosporine