Find Research outputs — Manipal Academy of Higher Education, Manipal, India

2019

The minimum vertex-block dominating energy of the graph

Udupa, S., Bhat, R. S. & Madhusudanan, V., 01-01-2019, In: Proceedings of the Jangjeon Mathematical Society. 22, 4, p. 593-608 16 p.

Research output: Contribution to journal › Article › peer-review

4 Citations (Scopus)

Strong (weak) VV-dominating set of a graph

Udupa, S. & Bhat, R. S., 01-01-2019, In: Malaysian Journal of Science. 38, 3, p. 24-33 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Citations (Scopus)

2017

Health-related impact on quality of life and coping strategies for chikungunya: A qualitative study in Curaçao

Elsinga, J., Grobusch, M. P., Tami, A., Gerstenbluth, I. & Bailey, A., 09-10-2017, In: PLoS Neglected Tropical Diseases. 11, 10, e0005987.

Research output: Contribution to journal › Article › peer-review

13 Citations (Scopus)

2018

Unmet needs of child and adolescent psychiatrists among Asian and European countries: does the Human Development Index (HDI) count?

Sourander, A., Chudal, R., Skokauskas, N., Al-Ansari, A. M., Klomek, A. B., Pornnoppadol, C., Kolaitis, G., Maezono, J., Steinhausen, H. C., Slobodskaya, H., Kaneko, H., Regmee, J., Li, L., Nguyen, M. H., Grimland, M., Osokina, O., Ong, S. H., Praharaj, S. K., Lesinskienė, S., Fossum, S. & 3 others, Wiguna, T., Makasheva, V. A. & Lehti, V., 01-01-2018, In: European Child and Adolescent Psychiatry. 27, 1, p. 5-8 4 p.

Research output: Contribution to journal › Editorial › peer-review

8 Citations (Scopus)

2019

Cardiac Rehabilitation Availability and Density around the Globe

Turk-Adawi, K., Supervia, M., Lopez-Jimenez, F., Pesah, E., Ding, R., Britto, R. R., Bjarnason-Wehrens, B., Derman, W., Abreu, A., Babu, A. S., Santos, C. A., Jong, S. K., Cuenza, L., Yeo, T. J., Scantlebury, D., Andersen, K., Gonzalez, G., Giga, V., Vulic, D., Vataman, E. & 39 others, Cliff, J., Kouidi, E., Yagci, I., Kim, C., Benaim, B., Estany, E. R., Fernandez, R., Radi, B., Gaita, D., Simon, A., Chen, S. Y., Roxburgh, B., Martin, J. C., Maskhulia, L., Burdiat, G., Salmon, R., Lomelí, H., Sadeghi, M., Sovova, E., Hautala, A., Tamuleviciute-Prasciene, E., Ambrosetti, M., Neubeck, L., Asher, E., Kemps, H., Eysymontt, Z., Farsky, S., Hayward, J., Prescott, E., Dawkes, S., Santibanez, C., Zeballos, C., Pavy, B., Kiessling, A., Sarrafzadegan, N., Baer, C., Thomas, R., Hu, D. & Grace, S. L., 01-08-2019, In: EClinicalMedicine. 13, p. 31-45 15 p.

Research output: Contribution to journal › Article › peer-review

Open Access

25 Citations (Scopus)

Nature of Cardiac Rehabilitation Around the Globe

Supervia, M., Turk-Adawi, K., Lopez-Jimenez, F., Pesah, E., Ding, R., Britto, R. R., Bjarnason-Wehrens, B., Derman, W., Abreu, A., Babu, A. S., Santos, C. A., Jong, S. K., Cuenza, L., Yeo, T. J., Scantlebury, D., Andersen, K., Gonzalez, G., Giga, V., Vulic, D., Vataman, E. & 39 others, Cliff, J., Kouidi, E., Yagci, I., Kim, C., Benaim, B., Estany, E. R., Fernandez, R., Radi, B., Gaita, D., Simon, A., Chen, S. Y., Roxburgh, B., Martin, J. C., Maskhulia, L., Burdiat, G., Salmon, R., Lomelí, H., Sadeghi, M., Sovova, E., Hautala, A., Tamuleviciute-Prasciene, E., Ambrosetti, M., Neubeck, L., Asher, E., Kemps, H., Eysymontt, Z., Farsky, S., Hayward, J., Prescott, E., Dawkes, S., Santibanez, C., Zeballos, C., Pavy, B., Kiessling, A., Sarrafzadegan, N., Baer, C., Thomas, R., Hu, D. & Grace, S. L., 01-08-2019, In: EClinicalMedicine. 13, p. 46-56 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

25 Citations (Scopus)

2018

Global, regional, and national age-sex-specific mortality and life expectancy, 1950-2017: A systematic analysis for the Global Burden of Disease Study 2017

GBD 2017 Mortality Collaborators, 10-11-2018, In: The Lancet. 392, 10159, p. 1684-1735 52 p.

Research output: Contribution to journal › Article › peer-review

Open Access

298 Citations (Scopus)

Pro-apoptotic and anti-cancer properties of diosgenin: A comprehensive and critical review

Sethi, G., Shanmugam, M. K., Warrier, S., Merarchi, M., Arfuso, F., Kumar, A. P. & Bishayee, A., 19-05-2018, In: Nutrients. 10, 5, 645.

Research output: Contribution to journal › Review article › peer-review

61 Citations (Scopus)

2019

Study on Acute Kidney Injury in Patients with Spontaneous Intracerebral Hemorrhage: an Overview from a Tertiary Care Hospital in South India

Ansaritoroghi, M., Nagaraju, S. P., Nair, R. P., Kumar, V., Kongwad, L. I., Attur, R. P., Ramachandran, G. M. & Hegde, A., 01-03-2019, In: World Neurosurgery.

Research output: Contribution to journal › Article › peer-review

5 Citations (Scopus)

Effect of hygrothermal aging on the mechanical properties of nanoclay-glass fiber-epoxy composite and optimization using full factorial design

Kini, U. A., Shettar, M., Sharma, S., Hiremath, P., Gowrishankar, M. C., Hegde, A. & Siddhartha, D., 20-03-2019, In: Materials Research Express. 6, 6, 065311.

Research output: Contribution to journal › Article › peer-review

9 Citations (Scopus)

An innovative surface morphology for a solar air heater to augment its performance

Madhwesh, N., Vasudeva Karanth, K. & Yagnesh Sharma, N., 01-01-2019, In: Procedia Manufacturing. 35, p. 1087-1095 9 p.

Research output: Contribution to journal › Conference article › peer-review

Open Access

1 Citation (Scopus)

2014

Review on non-conventional machining of shape memory alloys

Manjaiah, M., Narendranath, S. & Basavarajappa, S., 01-01-2014, In: Transactions of Nonferrous Metals Society of China (English Edition). 24, 1, p. 12-21 10 p.

Research output: Contribution to journal › Review article › peer-review

54 Citations (Scopus)

2018

Epigenetic tools (The Writers, The Readers and The Erasers) and their implications in cancer therapy

Biswas, S. & Rao, C. M., 15-10-2018, In: European Journal of Pharmacology. 837, p. 8-24 17 p.

Research output: Contribution to journal › Review article › peer-review

64 Citations (Scopus)

2019

Comparison of traditional image processing and deep learning approaches for classification of white blood cells in peripheral blood smear images

Hegde, R. B., Prasad, K., Hebbar, H. & Singh, B. M. K., 01-04-2019, In: Biocybernetics and Biomedical Engineering. 39, 2, p. 382-392 11 p.

Research output: Contribution to journal › Article › peer-review

25 Citations (Scopus)

2015

Production, testing and microstructural investigation on fly ash reinforced aluminium alloy matrix composite

Shivaprakash, Y. M., Gurumurthy, B. M., Sharma, S. S., Jayashree, P. K. & Gowrishankar, M. C., 01-01-2015, In: International Journal of Applied Engineering Research. 10, 20, p. 41583-41590 8 p.

Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

2016

Study of wear behavior and mechanical mixed layer on artificial aged Al6061 composite reinforced with B₄C particles

Shankar, G., Sharma, S. S., Kini, A., Jayashree, P. K. & Gurumurthy, B. M., 01-03-2016, In: Indian Journal of Science and Technology. 9, 12, 88073.

Research output: Contribution to journal › Article › peer-review

4 Citations (Scopus)

2018

Effect of precipitation hardening on stir cast AL6061-B₄C reinforced composite

Gowri Shankar, M. C., Jayashree, P. K., Sharma, S. & Kini, A., 01-01-2018, In: International Journal of Mechanical and Production Engineering Research and Development. 8, 5, p. 459-466 8 p., IJMPERDOCT201851.

Research output: Contribution to journal › Article › peer-review

2017

Analysis of elastomer turning under different rake angles

Nayak, R. & Shetty, R., 01-05-2017, In: ARPN Journal of Engineering and Applied Sciences. 12, 9, p. 2977-2981 5 p.

Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

Numerical investigation of chip formation during machining of elastomers and estimation of cutting force

Nayak, R., Keni, L. & Shetty, R., 01-11-2017, In: International Review of Mechanical Engineering. 11, 11, p. 877-882 6 p.

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

2019

A turbulence inducer side wall treatment for a solar collector for performance improvement

Vasudeva Karanth, K., Yagnesh Sharma, N. & Madhwesh, N., 01-01-2019, In: Procedia Manufacturing. 35, p. 1102-1110 9 p.

Research output: Contribution to journal › Conference article › peer-review

Open Access

2 Citations (Scopus)

Mechanical characterization and microstructural analysis of AISI 4340 ferrite-martensite dual phase steel

Gurumurthy, B. M., Sharma, S., Ramakrishna Vikas, S. & Achutha Kini, U., 01-01-2019, In: International Journal of Mechanical Engineering and Robotics Research. 8, 4, p. 553-558 6 p.

Research output: Contribution to journal › Article › peer-review

Numerical analysis of flat plate solar air heater integrated with an array of pin fins on absorber plate for enhancement in thermal performance

Manjunath, M. S., Vasudeva Karanth, K. & Yagnesh Sharma, N., 01-10-2019, In: Journal of Solar Energy Engineering, Transactions of the ASME. 141, 5, 051008.

Research output: Contribution to journal › Article › peer-review

10 Citations (Scopus)

2012

Further characterization of acro-renal-uterine-mandibular syndrome: Report of a case and review of earlier reports

Girisha, K. M., Pratap, D. & Shah, H. H., 04-2012, In: Clinical Dysmorphology. 21, 2, p. 83-86 4 p.

Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

2015

Co-occurrence of a de novo Williams and 22q11.2 microdeletion syndromes

Shukla, A., Mandal, K., Patil, S. J., Kishore, Y., Phadke, S. R. & Girisha, K. M., 01-08-2015, In: American Journal of Medical Genetics, Part A. 167, 8, p. 1927-1931 5 p.

Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

2014

Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta

Stephen, J., Shukla, A., Dalal, A., Girisha, K. M., Shah, H., Gupta, N., Kabra, M., Dabadghao, P. & Phadke, S. R., 2014, In: American Journal of Medical Genetics, Part A. 164, 6, p. 1482-1489 8 p.

Research output: Contribution to journal › Article › peer-review

17 Citations (Scopus)

2019

Cornelia de Lange syndrome in diverse populations

Dowsett, L., Porras, A. R., Kruszka, P., Davis, B., Hu, T., Honey, E., Badoe, E., Thong, M. K., Leon, E., Girisha, K. M., Shukla, A., Nayak, S. S., Shotelersuk, V., Megarbane, A., Phadke, S., Sirisena, N. D., Dissanayake, V. H. W., Ferreira, C. R., Kisling, M. S., Tanpaiboon, P. & 45 others, Uwineza, A., Mutesa, L., Tekendo-Ngongang, C., Wonkam, A., Fieggen, K., Batista, L. C., Moretti-Ferreira, D., Stevenson, R. E., Prijoles, E. J., Everman, D., Clarkson, K., Worthington, J., Kimonis, V., Hisama, F., Crowe, C., Wong, P., Johnson, K., Clark, R. D., Bird, L., Masser-Frye, D., McDonald, M., Willems, P., Roeder, E., Saitta, S., Anyane-Yeoba, K., Demmer, L., Hamajima, N., Stark, Z., Gillies, G., Hudgins, L., Dave, U., Shalev, S., Siu, V., Ades, A., Dubbs, H., Raible, S., Kaur, M., Salzano, E., Jackson, L., Deardorff, M., Kline, A., Summar, M., Muenke, M., Linguraru, M. G. & Krantz, I. D., 01-02-2019, In: American Journal of Medical Genetics, Part A. 179, 2, p. 150-158 9 p.

Research output: Contribution to journal › Article › peer-review

14 Citations (Scopus)

2012

A study of antibacterial and antifungal properties of human cerumen

Gupta, S., Singh, R., Kosaraju, K., Bairy, I. & Ramaswamy, B., 01-10-2012, In: Indian Journal of Otology. 18, 4, p. 189-192 4 p.

Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

2019

Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA

Kaur, P., Wamelink, M. M. C., van der Knaap, M. S., Girisha, K. M. & Shukla, A., 01-08-2019, In: European Journal of Medical Genetics. 62, 8, 103708.

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

2015

Novel and recurrent mutations in WISP3 and an atypical phenotype

Bhavani, G. S., Shah, H., Dalal, A. B., Shukla, A., Danda, S., Aggarwal, S., Phadke, S. R., Gupta, N., Kabra, M., Gowrishankar, K., Gupta, A., Bhat, M., Puri, R. D., Bijarnia-Mahay, S., Nampoothiri, S., Mohanasundaram, K. M., Rajeswari, S., Kulkarni, A. M., Kulkarni, M. L., Ranganath, P. & 3 others, Ramadevi, A. R., Hariharan, S. V. & Girisha, K. M., 01-10-2015, In: American Journal of Medical Genetics, Part A. 167, 10, p. 2481-2484 4 p.

Research output: Contribution to journal › Letter › peer-review

15 Citations (Scopus)

2016

Characterization of greater middle eastern genetic variation for enhanced disease gene discovery

Scott, E. M., Halees, A., Itan, Y., Spencer, E. G., He, Y., Azab, M. A., Gabriel, S. B., Belkadi, A., Boisson, B., Abel, L., Clark, A. G., Rahim, S. A., Alkuraya, F. S., Casanova, J. L., Gleeson, J. G., Abdou, M., Abhytankar, A., Adimi, P., Ahmad, J., Akcakus, M. & 31 others, Aksu, G., Al Hajjar, S., Al Juamaah, S., Al Muhsen, S., Al Sannaa, N., Al Tameni, S., Al-Aama, J., Al-Allawi, N., Al-Baradie, R., Al-Gazali, L., Al-Hashem, A., Al-Herz, W., Al-Jeaid, D., Al-Tawari, A., Alangari, A., Alcais, A., AlFawaz, T. S., Alsum, Z., Ammar-Khodja, A., Amouian, S., Arikan, C., Aryani, O., Aslanger, A., Aydogmus, C., Aytekin, C., Azam, M., Bansagi, B., Barbouche, M. R., Bastaki, L., Girisha, K. M. & Greater Middle East Variome Consortium, 01-09-2016, In: Nature Genetics. 48, 9, p. 1071-1079 9 p.

Research output: Contribution to journal › Letter › peer-review

137 Citations (Scopus)

2011

Analysis of cosegregation of intragenic DNA sequence variations as markers of maternal cell contamination in prenatal diagnosis of β-thalassemia

Saadi, A. V., Girisha, K. M., Gopinath, P. M. & Satyamoorthy, K., 03-2011, In: Translational Research. 157, 3, p. 150-155 6 p.

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

2017

Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia

Guo, L., Girisha, K. M., Iida, A., Hebbar, M., Shukla, A., Shah, H., Nishimura, G., Matsumoto, N., Nismath, S., Miyake, N. & Ikegawa, S., 01-03-2017, In: Journal of Human Genetics. 62, 3, p. 437-441 5 p.

Research output: Contribution to journal › Article › peer-review

18 Citations (Scopus)

2014

A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia

Girisha, K. M., Bidchol, A. M., Kamath, P. S., Shah, K. H., Mortier, G. R., Mundlos, S. & Shah, H., 2014, In: American Journal of Medical Genetics, Part A. 164, 4, p. 898-906 9 p.

Research output: Contribution to journal › Article › peer-review

13 Citations (Scopus)

2012

Novel mutation in an Indian patient with methylmalonic acidemia, cbIA type

Girisha, K. M., Shrikiran, A., Bidchol, A. M., Sakamoto, O., Gopinath, P. M. & Satyamoorthy, K., 09-2012, In: Indian Journal of Human Genetics. 18, 3, p. 346-348 3 p.

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

2017

Complexities in Genotype-Phenotype Correlation and Genetic Counseling in Collagen VI - Related Myopathy

Hebbar, M., Chandra, T., Shukla, A., Kadavigere, R. & Girisha, K. M., 01-04-2017, In: Indian Journal of Pediatrics. 84, 4, p. 330-331 2 p.

Research output: Contribution to journal › Letter › peer-review

1 Citation (Scopus)

2018

Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta

Mrosk, J., Bhavani, G. S. L., Shah, H., Hecht, J., Krüger, U., Shukla, A., Kornak, U. & Girisha, K. M., 01-05-2018, In: Bone. 110, p. 368-377 10 p.

Research output: Contribution to journal › Article › peer-review

16 Citations (Scopus)

2019

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

Baylor-Hopkins Center for Mendelian Genomics, 03-07-2019, In: American Journal of Human Genetics. 105, 1, p. 132-150 19 p.

Research output: Contribution to journal › Article › peer-review

25 Citations (Scopus)

2017

Noonan syndrome in diverse populations

Kruszka, P., Porras, A. R., Addissie, Y. A., Moresco, A., Medrano, S., Mok, G. T. K., Leung, G. K. C., Tekendo-Ngongang, C., Uwineza, A., Thong, M. K., Muthukumarasamy, P., Honey, E., Ekure, E. N., Sokunbi, O. J., Kalu, N., Jones, K. L., Kaplan, J. D., Abdul-Rahman, O. A., Vincent, L. M., Love, A. & 42 others, Belhassan, K., Ouldim, K., El Bouchikhi, I., Shukla, A., Girisha, K. M., Patil, S. J., Sirisena, N. D., Dissanayake, V. H. W., Paththinige, C. S., Mishra, R., Klein-Zighelboim, E., Gallardo Jugo, B. E., Chávez Pastor, M., Abarca-Barriga, H. H., Skinner, S. A., Prijoles, E. J., Badoe, E., Gill, A. D., Shotelersuk, V., Smpokou, P., Kisling, M. S., Ferreira, C. R., Mutesa, L., Megarbane, A., Kline, A. D., Kimball, A., Okello, E., Lwabi, P., Aliku, T., Tenywa, E., Boonchooduang, N., Tanpaiboon, P., Richieri-Costa, A., Wonkam, A., Chung, B. H. Y., Stevenson, R. E., Summar, M., Mandal, K., Phadke, S. R., Obregon, M. G., Linguraru, M. G. & Muenke, M., 01-09-2017, In: American Journal of Medical Genetics, Part A. 173, 9, p. 2323-2334 12 p.

Research output: Contribution to journal › Article › peer-review

39 Citations (Scopus)

2015

Anomalies associated with single umbilical artery at perinatal autopsy

Nayak, S. S., Shukla, A. & Girisha, K. M., 01-01-2015, In: Indian Pediatrics. 52, 1, p. 73-74 2 p.

Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

2019

Wavelet transform based protection of transmission lines with four quadrant operation of STATCOM

Gururaja Rao, H. V., Prabhu, N. & Mala, R. C., 01-07-2019, In: International Journal of Recent Technology and Engineering. 8, 2, p. 4713-4719 7 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2018

A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome

Hebbar, M., Kanthi, A., Shukla, A., Bielas, S. & Girisha, K. M., 01-07-2018, In: Journal of Human Genetics. 63, 8, p. 935-939 5 p.

Research output: Contribution to journal › Article › peer-review

4 Citations (Scopus)

Small-signal AC model and closed loop control of interleaved three-phase boost converter

Gururaja Rao, H. V., Mudliyar, K. & Mala, R. C., 01-03-2018, In: International Journal of Power Electronics and Drive Systems. 9, 1, p. 240-251 12 p.

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

2016

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

Toubiana, J., Okada, S., Hiller, J., Oleastro, M., Gomez, M. L., Becerra, J. C. A., Ouachée-Chardin, M., Fouyssac, F., Girisha, K. M., Etzioni, A., Van Montfrans, J., Camcioglu, Y., Kerns, L. A., Belohradsky, B., Blanche, S., Bousfiha, A., Rodriguez-Gallego, C., Meyts, I., Kisand, K., Reichenbach, J. & 14 others, Renner, E. D., Rosenzweig, S., Grimbacher, B., Van De Veerdonk, F. L., Traidl-Hoffmann, C., Picard, C., Marodi, L., Morio, T., Kobayashi, M., Lilic, D., Milner, J. D., Holland, S., Casanova, J. L. & Puel, A., 23-06-2016, In: Blood. 127, 25, p. 3154-3164 11 p.

Research output: Contribution to journal › Article › peer-review

219 Citations (Scopus)

Estimation of correlation between various types of pixel intensities in a single spot

Karun, K. M., Binu, V. S., Sreekumaran Nair, N., Manjunatha Prasad, K., Karun, K. M., Prasad, K. & Girisha, K. M., 2016, In: Electronic Journal of Applied Statistical Analysis. 9, 1, p. 58-67 10 p.

Research output: Contribution to journal › Article › peer-review

2017

Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses

Kubaski, F., Suzuki, Y., Orii, K., Giugliani, R., Church, H. J., Mason, R. W., Dũng, V. C., Ngoc, C. T. B., Yamaguchi, S., Kobayashi, H., Girisha, K. M., Fukao, T., Orii, T. & Tomatsu, S., 01-03-2017, In: Molecular Genetics and Metabolism. 120, 3, p. 247-254 8 p.

Research output: Contribution to journal › Article › peer-review

23 Citations (Scopus)

2016

Erratum: Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis (American Journal of Human Genetics (2016) 99(5) (1206–1216) (S0002929716304001) (10.1016/j.ajhg.2016.09.019))

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., 01-12-2016, In: American Journal of Human Genetics. 99, 6, p. 1406-1408 3 p.

Research output: Contribution to journal › Comment/debate › peer-review

15 Citations (Scopus)

2014

Exome sequencing identifies a dominant tnnt3 mutation in a large family with distal arthrogryposis

Daly, S. B., Shah, H., O'Sullivan, J., Anderson, B., Bhaskar, S., Williams, S., Al-Sheqaih, N., Mueed Bidchol, A., Banka, S., Newman, W. G. & Girisha, K. M., 2014, In: Molecular Syndromology. 5, 5, p. 218-228 11 p.

Research output: Contribution to journal › Article › peer-review

5 Citations (Scopus)

2018

Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis

Shukla, A., Das Bhowmik, A., Hebbar, M., Rajagopal, K. V., Girisha, K. M., Gupta, N. & Dalal, A., 01-01-2018, In: Journal of Human Genetics. 63, 1, p. 19-25 7 p.

Research output: Contribution to journal › Article › peer-review

14 Citations (Scopus)

2017

Phenotypes and genotypes in individuals with SMC1A variants

Huisman, S., Mulder, P. A., Redeker, E., Bader, I., Bisgaard, A. M., Brooks, A., Cereda, A., Cinca, C., Clark, D., Cormier-Daire, V., Deardorff, M. A., Diderich, K., Elting, M., van Essen, A., FitzPatrick, D., Gervasini, C., Gillessen-Kaesbach, G., Girisha, K. M., Hilhorst-Hofstee, Y., Hopman, S. & 28 others, Horn, D., Isrie, M., Jansen, S., Jespersgaard, C., Kaiser, F. J., Kaur, M., Kleefstra, T., Krantz, I. D., Lakeman, P., Landlust, A., Lessel, D., Michot, C., Moss, J., Noon, S. E., Oliver, C., Parenti, I., Pie, J., Ramos, F. J., Rieubland, C., Russo, S., Selicorni, A., Tümer, Z., Vorstenbosch, R., Wenger, T. L., van Balkom, I., Piening, S., Wierzba, J. & Hennekam, R. C., 01-08-2017, In: American Journal of Medical Genetics, Part A. 173, 8, p. 2108-2125 18 p.

Research output: Contribution to journal › Article › peer-review

25 Citations (Scopus)

Metallography & bulk hardness of artificially aged Al6061-B₄C-SiC stir cast hybrid composites

Sharma, S. S., Jagannath, K., Prabhu, P. R., Gowri, S., Harisha, S. R. & Kini, A., 01-01-2017, 4th Asia Conference on Mechanical and Materials Engineering. Trans Tech Publications Ltd, p. 140-143 4 p. (Materials Science Forum; vol. 880).

Research output: Chapter in Book/Report/Conference proceeding › Conference contribution

5 Citations (Scopus)

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