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Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly
Klöckner, C., Fernández-Murray, J. P., Tavasoli, M., Sticht, H., Stoltenburg-Didinger, G., Scholle, L. M., Bakhtiari, S., Kruer, M. C., Darvish, H., Firouzabadi, S. G., Pagnozzi, A., Shukla, A., Girisha, K. M., Narayanan, D. L., Kaur, P., Maroofian, R., Zaki, M. S., Noureldeen, M. M., Merkenschlager, A., Gburek-Augustat, J., & 9 others , 01-06-2022, In: Brain. 145, 6, p. 1916-1923 8 p.Research output: Contribution to journal › Article › peer-review
1 Citation (Scopus) -
Bi-allelic variant c.8638_8658dup in HYDIN causes bronchiectasis in two siblings
Radhakrishnan, P., Magazine, R., Surendra, V. U., Mathur, N., Shukla, A. & Girisha, K. M., 01-12-2020, In: Gene Reports. 100961.Research output: Contribution to journal › Article › peer-review
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Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism
Undiagnosed Diseases Network members, 06-12-2018, In: American Journal of Human Genetics. 103, 6, p. 948-967 20 p.Research output: Contribution to journal › Article › peer-review
10 Citations (Scopus) -
Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia
Majethia, P., Somashekar, P. H., Hebbar, M., Kadavigere, R., Praveen, B. K., Girisha, K. M. & Shukla, A., 08-2021, In: Clinical Genetics. 100, 2, p. 201-205 5 p.Research output: Contribution to journal › Article › peer-review
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Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability
Sheikh, T. I., Vasli, N., Pastore, S., Kharizi, K., Harripaul, R., Fattahi, Z., Pande, S., Naeem, F., Hussain, A., Mir, A., Islam, O., Girisha, K. M., Irfan, M., Ayub, M., Schwarzer, C., Najmabadi, H., Shukla, A., Sladky, V. C., Braun, V. Z., Garcia-Carpio, I., & 2 others , 06-2021, In: Translational Psychiatry. 11, 1, 1.Research output: Contribution to journal › Article › peer-review
Open Access9 Citations (Scopus) -
Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia
Somashekar, P. H., Kaur, P., Stephen, J., Guleria, V. S., Kadavigere, R., Girisha, K. M., Bielas, S., Upadhyai, P. & Shukla, A., 04-2021, In: Clinical Genetics. 99, 4, p. 594-600 7 p.Research output: Contribution to journal › Article › peer-review
6 Citations (Scopus) -
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis
Delle Vedove, A., Storbeck, M., Heller, R., Hölker, I., Hebbar, M., Shukla, A., Magnusson, O., Cirak, S., Girisha, K. M., O'Driscoll, M., Loeys, B. & Wirth, B., 03-11-2016, In: American Journal of Human Genetics. 99, 5, p. 1206-1216 11 p.Research output: Contribution to journal › Article › peer-review
52 Citations (Scopus) -
Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3
Simsek-Kiper, P. O., Jacob, P., Upadhyai, P., Taşkıran, Z. E., Guleria, V. S., Karaosmanoglu, B., Imren, G., Gocmen, R., Bhavani, G. S., Kausthubham, N., Shah, H., Utine, G. E., Boduroglu, K. & Girisha, K. M., 12-2022, In: Human Mutation. 43, 12, p. 2116-2129 14 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Citation (Scopus) -
Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss
Vona, B., Schwartzbaum, D. A., Rodriguez, A. A., Lewis, S. S., Toosi, M. B., Radhakrishnan, P., Bozan, N., Akın, R., Doosti, M., Manju, R., Duman, D., Sineni, C. J., Nampoothiri, S., Karimiani, E. G., Houlden, H., Bademci, G., Tekin, M., Girisha, K. M., Maroofian, R. & Douzgou, S., 09-2022, In: Journal of the European Academy of Dermatology and Venereology. 36, 9, p. 1606-1611 6 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A
Upadhyai, P., Radhakrishnan, P., Guleria, V. S., Kausthubham, N., Nayak, S. S., Superti-Furga, A. & Girisha, K. M., 08-2021, In: Human Mutation.Research output: Contribution to journal › Article › peer-review
1 Citation (Scopus) -
Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome
Kanthi, A., Hebbar, M., Bielas, S. L., Girisha, K. M. & Shukla, A., 01-06-2019, In: European Journal of Medical Genetics.Research output: Contribution to journal › Article › peer-review
6 Citations (Scopus) -
Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence
Radhakrishnan, P., Shukla, A., Girisha, K. M. & Nayak, S. S., 01-04-2020, In: American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article › peer-review
1 Citation (Scopus) -
Bi 2 Te 3 -PLZT(9/65/35)-PVDF multifunctional nanocomposite films for futuristic energy harvestors
Ramam, K., Gurumurthy, S. C. & Nagaraja, B. S., 20-03-2019, 2nd International Conference on Inventive Research in Material Science and Technology, ICIRMCT 2019. Smys, S., Subarna, S. & Chen, J. (eds.). American Institute of Physics Inc., 020016. (AIP Conference Proceedings; vol. 2087).Research output: Chapter in Book/Report/Conference proceeding › Conference contribution
Open Access -
Bhuta Kola ritual performances: Locating aesthetics in collective memory and shared experience
Baindur, M. & Tapaswi, H. M., 01-01-2019, In: Asian Theatre Journal. 36, 2, p. 395-415 21 p.Research output: Contribution to journal › Article › peer-review
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BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia
Cho, S. Y., Bae, J. S., Kim, N. K. D., Forzano, F., Girisha, K. M., Baldo, C., Faravelli, F., Cho, T. J., Kim, D., Lee, K. Y., Ikegawa, S., Shim, J. S., Ko, A. R., Miyake, N., Nishimura, G., Superti-Furga, A., Spranger, J., Kim, O. H., Park, W. Y. & Jin, D. K., 02-06-2016, In: American Journal of Human Genetics. 98, 6, p. 1243-1248 6 p.Research output: Contribution to journal › Article › peer-review
27 Citations (Scopus) -
Beyond PRNU: Learning Robust Device-Specific Fingerprint for Source Camera Identification
Manisha, Li, C. T., Lin, X. & Kotegar, K. A., 10-2022, In: Sensors. 22, 20, 7871.Research output: Contribution to journal › Article › peer-review
Open Access -
Beyond insulin
Kunder, S. K., Avinash, A., Patil, N., Adiga, S., Pathak, A. & Tilak, A., 01-01-2016, In: Research Journal of Pharmaceutical, Biological and Chemical Sciences. 7, 3, p. 2400-2402 3 p.Research output: Contribution to journal › Article › peer-review
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Beyond hostile linguistic cues: The gravity of online milieu for hate speech detection in Arabic
Chowdhury, A. G., Didolkar, A., Sawhney, R. & Shah, R. R., 12-09-2019, HT 2019 - Proceedings of the 30th ACM Conference on Hypertext and Social Media. Association for Computing Machinery, Inc, p. 285-286 2 p. (HT 2019 - Proceedings of the 30th ACM Conference on Hypertext and Social Media).Research output: Chapter in Book/Report/Conference proceeding › Conference contribution
5 Citations (Scopus) -
Beware the perianal granuloma! A case report
Bhat, S. T., Kini, H., Kini, A. U. & Tantry, B. V., 01-01-2010, In: Acta Cytologica. 54, 5, p. 1031-1034 4 p.Research output: Contribution to journal › Article › peer-review
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Beware of external tracheal compression in children with acute onset stridor
Sathyajith, K. A., Umesh, G., Shwethapriya, R. & Amitha, R. A., 01-05-2009, In: Paediatric Anaesthesia. 19, 5, p. 542-544 3 p.Research output: Contribution to journal › Letter › peer-review
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Beware! reduced functional capacity and quality of life with increased fatigue level among the breast cancer survivors undergoing chemotherapy in India
Ramachandran, S., Sudhakar, S., Thaslim, F., Kirthika, S., Padmanabhan, K. & Samuel, A., 01-01-2018, In: Indian Journal of Palliative Care. 24, 1, p. 117-118 2 p.Research output: Contribution to journal › Letter › peer-review
3 Citations (Scopus) -
Between love and freedom: The revolutionary in the Hindi novel
Govind, N., 01-01-2014, Taylor and Francis. 180 p.Research output: Book/Report › Book
10 Citations (Scopus) -
Beta-lactam market research: Progress, challenges and prospects
Bhat, B. B., Prabhu, P. P., Lobo, M. J., Anusha, Prathvi & Kamath, V., 09-07-2020, In: International Journal of Research in Pharmaceutical Sciences. 11, 3, p. 4879-4883 5 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Beta-lactam antibiotics induced bacteriolysis on LSPR sensors for assessment of antimicrobial resistance and quantification of antibiotics
Nag, P., Sadani, K., Mukherji, S. & Mukherji, S., 15-05-2020, In: Sensors and Actuators, B: Chemical. 311, 127945.Research output: Contribution to journal › Article › peer-review
27 Citations (Scopus) -
Beta-glucuronidase activity in gastric aspirate in gastric carcinoma.
Ramani, A., Kundaje, G. N., Aroor, A. R. & Nalini, K., 01-10-1987, In: Indian Journal of Gastroenterology. 6, 4, p. 231-232 2 p.Research output: Contribution to journal › Article › peer-review
1 Citation (Scopus) -
Betacyclodextrin for improved stability and delivery of anti-infective drugs
Martin, D. B. & Udupa, N., 1995, In: Indian Journal of Pharmaceutical Sciences. 57, 5, p. 203-206 4 p.Research output: Contribution to journal › Article › peer-review
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Betacyclodextrin complex for better release and stability
Udupa, N. & Aithal, K. S., 1995, In: Proceedings of the Controlled Release Society. 22, p. 372-373 2 p.Research output: Contribution to journal › Article › peer-review
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Beta-Caryophyllene, a CB2R Selective Agonist, Protects Against Cognitive Impairment Caused by Neuro-inflammation and Not in Dementia Due to Ageing Induced by Mitochondrial Dysfunction
Kanojia, U., Chaturbhuj, S. G., Sankhe, R., Das, M., Surubhotla, R., Krishnadas, N., Gourishetti, K., Nayak, P. G. & Kishore, A., 2021, In: CNS & neurological disorders drug targets. 20, 10, p. 963-974 12 p.Research output: Contribution to journal › Article › peer-review
4 Citations (Scopus) -
Beta-Alanine and Tris-(hydroxyl methyl) Aminomethane as Peak Modifiers in the Development of RP-HPLC Methods Using Aceclofenac and Haloperidol Hydrochloride as Exemplar Drugs
Peraman, R., Chiranjeevi, P., Reddy, Y. P., Kumar, K. V., Vasantharaju, S. G. & Nagappan, K., 01-11-2021, In: Journal of Chromatographic Science. 59, 10, p. 899-908 10 p.Research output: Contribution to journal › Article › peer-review
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Best Practice Guidance for Creation and Management of Innovations in Health care and Information and Communications Technologies
Schee Genannt Halfmann, S., Evangelatos, N., Kweyu, E., Van Der Merwe, A., Steinhausen, K. & Brand, A., 02-2022, In: OMICS A Journal of Integrative Biology. 26, 2, p. 106-114 9 p.Research output: Contribution to journal › Article › peer-review
1 Citation (Scopus) -
BERT based Transformers lead the way in Extraction of Health Information from Social Media
Ramesh, S., Tiwari, A., Choubey, P., Kashyap, S., Khose, S., Lakara, K., Singh, N. & Verma, U., 2021, Social Media Mining for Health, SMM4H 2021 - Proceedings of the 6th Workshop and Shared Tasks. Magge, A., Klein, A. Z., Miranda-Escalada, A., Al-garadi, M. A., Alimova, I., Miftahutdinov, Z., Farre-Maduell, E., Lopez, S. L., Flores, I., O'Connor, K., Weissenbacher, D., Tutubalina, E., Sarker, A., Banda, J. M., Krallinger, M. & Gonzalez-Hernandez, G. (eds.). Association for Computational Linguistics (ACL), p. 33-38 6 p. (Social Media Mining for Health, SMM4H 2021 - Proceedings of the 6th Workshop and Shared Tasks).Research output: Chapter in Book/Report/Conference proceeding › Conference contribution
4 Citations (Scopus) -
Bernard-Soulier Syndrome with Unusual Presentation of Splenic Infarct
Shankar, A., Siddharth, G., Anne, T. A. & Nair, A. U., 15-02-2021, In: Journal of evidence based medicine and health care. 8, 7Research output: Contribution to journal › Short survey › peer-review
Open Access -
Bericht & Report: Folsäure
Verhagen, M. C. M., Brand, A., Ambrosino, E. & Haslberger, A. G., 12-2011, In: Journal fur Ernahrungsmedizin. 13, 4, p. 28-30 3 p.Translated title of the contribution :Folic acid: A case for personalized preventive nutrition? Research output: Contribution to journal › Article › peer-review
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BER Evaluation in the cascade of 2R BMORs in the presence of Atmospheric Turbulence
Deodhar, Y. & Kakade, P. D., 2022, 2022 Workshop on Recent Advances in Photonics, WRAP 2022. Institute of Electrical and Electronics Engineers Inc., (2022 Workshop on Recent Advances in Photonics, WRAP 2022).Research output: Chapter in Book/Report/Conference proceeding › Conference contribution
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Berberine hydrochloride could prove to be a promising bullet against Clostridium difficile infection: A preliminary study from South India
Chakraborty, R., Lobo, R., Prabhu, M. M., Umakanth, S., Chowdhury, G., Mukhopadhyay, A. K., Ramamurthy, T. & Ballal, M., 01-01-2017, In: Asian Journal of Pharmaceutical and Clinical Research. 10, 12, p. 419-424 6 p.Research output: Contribution to journal › Article › peer-review
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Berberine, a natural alkaloid sensitizes human hepatocarcinoma to ionizing radiation by blocking autophagy and cell cycle arrest resulting in senescence
Ramesh, G., Das, S. & Bola Sadashiva, S. R., 01-12-2020, In: Journal of Pharmacy and Pharmacology. 72, 12, p. 1893-1908 16 p.Research output: Contribution to journal › Article › peer-review
9 Citations (Scopus) -
Benzothieno[3,2-e][1,2,4]triazolo[4,3-c]pyrimidines: Synthesis, characterization, antimicrobial activity, and incorporation into solid lipid nanoparticles
Panchamukhi, S. I., Mulla, J. A. S., Shetty, N. S., Khazi, M. I. A., Khan, A. Y., Kalashetti, M. B. & Khazi, I. A. M., 06-2011, In: Archiv der Pharmazie. 344, 6, p. 358-365 8 p.Research output: Contribution to journal › Article › peer-review
9 Citations (Scopus) -
Benzopyran-4-one is an ideal pharmacophore for lead optimization in antidiabetic drug discovery
Nayak, Y., Jayashree, B. S. & Unnikrishnan, M. K., 2012, In: Research Journal of Pharmacy and Technology. 5, 8, p. 1025-1033 9 p.Research output: Contribution to journal › Review article › peer-review
6 Citations (Scopus) -
Benzodiazepine induced acute pancreatitis
Tadkal, P. S., Bhat, N. & Hande, M., 01-06-2018, In: Journal of Clinical and Diagnostic Research. 12, 6, p. OD06-OD07Research output: Contribution to journal › Article › peer-review
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Benzenesulfonamide
Gowda, B. T., Nayak, R., Kožíšek, J., Tokarčík, M. & Fuess, H., 03-05-2007, In: Acta Crystallographica Section E: Structure Reports Online. 63, 6Research output: Contribution to journal › Article › peer-review
20 Citations (SciVal) -
Bentonite Clay Liquid Crystals for High-Performance Supercapacitors
Neelamma, M. K., Holla, S. R., Selvakumar, M., Chandran, P. A. & De, S., 05-2022, In: Journal of Electronic Materials. 51, 5, p. 2192-2202 11 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Citation (Scopus) -
Benign tertian malaria – a misnomer?
Bammigatti, C., Shetty, S., Shetty, S. & Kumar, A., 01-01-2011, In: Tropical Doctor. 41, 3, p. 168-169 2 p.Research output: Contribution to journal › Article › peer-review
7 Citations (Scopus) -
Benign teratoma of the lesser omentum - A case report
Naik, R., Baliga, P. B., Pai, M. R., Nayak, K. S. & Shankarnarayanan, 07-2003, In: Indian Journal of Pathology and Microbiology. 46, 3, p. 461-463 3 p.Research output: Contribution to journal › Article › peer-review
1 Citation (SciVal) -
Benign scalp lesion: An unusual presentation of B cell- lymphoblastic lymphoma - A case report
Kudva, R. & Khan, S., 02-2023, In: Journal of Oral and Maxillofacial Pathology. 27, 5, p. 24-27 4 p.Research output: Contribution to journal › Article › peer-review
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Benign lymphoid hyperplasia of the tongue masquerading as carcinoma: Case report and literature review
Carnelio, S. & Rodrigues, G., 01-01-2005, In: Journal of Contemporary Dental Practice. 6, 3, p. 111-119 9 p.Research output: Contribution to journal › Review article › peer-review
7 Citations (Scopus) -
Benign lymphoepithelial cyst of the parotid in HIV negative patient
Pillai, S., Agarwal, A. C., Mangalore, A. B., Ramaswamy, B. & Shetty, S., 01-04-2016, In: Journal of Clinical and Diagnostic Research. 10, 4, p. MD05-MD06Research output: Contribution to journal › Article › peer-review
9 Citations (Scopus) -
Benign lesions of larynx - A clinical study
Hegde, M. C., Kamath, M. P., Bhojwani, K., Peter, R. & Babu, P. R., 01-01-2005, In: Indian Journal of Otolaryngology and Head and Neck Surgery. 57, 1, p. 35-38 4 p.Research output: Contribution to journal › Article › peer-review
8 Citations (Scopus) -
Benign giant cell tumour with calcified lung metastasis.
Lakhkar, B. N., 01-01-1997, In: The Indian journal of chest diseases & allied sciences. 39, 2, p. 115-117 3 p.Research output: Contribution to journal › Article › peer-review
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Benign fibrous histiocytoma: A rare case involving jaw bone
Shoor, H., Pai, K. M., Shergill, A. K. & Kamath, A. T., 01-09-2015, In: Contemporary Clinical Dentistry. 6, p. S266-S268Research output: Contribution to journal › Article › peer-review
7 Citations (Scopus) -
Benign cystic teratoma of mesentery.
Naik, R. & Raghuveer, C. V., 01-04-1993, In: Indian Journal of Pathology and Microbiology. 36, 2, p. 151-153 3 p.Research output: Contribution to journal › Article › peer-review
7 Citations (Scopus)