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Oculogyric Crisis Phenotype of Levodopa‐Induced Ocular Dyskinesia.
Published in:
Movement Disorders Clinical Practice, 2022, v. 9, n. 3, p. 390, doi. 10.1002/mdc3.13416
By:
- Olszewska, Diana A.;
- Shetty, Rajesh;
- Geetha, Thenral S.;
- Ramprasad, Vedam L.;
- Lang, Anthony E.;
- Kukkle, Prashanth Lingappa
Publication type:
Article
Reply to: Fatal Familial Insomnia: A Rare Disease with Unique Clinico‐Neurophysiological Features.
Published in:
Movement Disorders Clinical Practice, 2021, v. 8, n. 1, p. 164, doi. 10.1002/mdc3.13115
By:
- Kukkle, Prashanth L.;
- Geetha, Thenral S.;
- Mahadevan, Anita;
- Ramprasad, Vedam L.
Publication type:
Article
A Case of Autosomal Dominant Ataxia with Vocal Cord Palsy Attributed to a Mutation in the PRNP Gene.
Published in:
Movement Disorders Clinical Practice, 2020, v. 7, n. 6, p. 688, doi. 10.1002/mdc3.12999
By:
- Kukkle, Prashanth L.;
- Geetha, Thenral S.;
- Mahadevan, Anita;
- Ramprasad, Vedam L.
Publication type:
Article
Adult‐Onset Myoclonus‐Dystonia Syndrome Preceding Characteristic Facial Myoclonus in Indian ADCY5‐related Dyskinesia.
Published in:
Movement Disorders Clinical Practice, 2019, v. 6, n. 3, p. 267, doi. 10.1002/mdc3.12733
By:
- Agarwal, Pankaj Ashok;
- Ramprasad, Vedam L.
Publication type:
Article
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay ( ARSACS)-First Report of Clinical and Imaging Features from India, and a Novel SACS Gene Duplication.
Published in:
Movement Disorders Clinical Practice, 2017, v. 4, n. 5, p. 775, doi. 10.1002/mdc3.12520
By:
- Agarwal, Pankaj A.;
- Ate‐Upasani, Priti;
- Ramprasad, Vedam L.
Publication type:
Article
First Report of Kufor-Rakeb Syndrome ( PARK 9) from India, and a Novel Nonsense Mutation in ATP13A2 Gene.
Published in:
Movement Disorders Clinical Practice, 2015, v. 2, n. 3, p. 326, doi. 10.1002/mdc3.12175
By:
- Prashanth, L.K.;
- Murugan, Sakthivel;
- Kamath, Vikram;
- Gupta, Ravi;
- Jadav, Rakesh;
- Sreekantaswamy, S.;
- Ramprasad, Vedam L.
Publication type:
Article
Robinow Syndrome and Brachydactyly: An Interplay of High-Throughput Sequencing and Deep Phenotyping in a Kindred.
Published in:
Molecular Syndromology, 2020, v. 11, n. 1, p. 43, doi. 10.1159/000505506
By:
- Mishra, Ranjana;
- Jain, Vibha;
- Gupta, Deepti;
- Saxena, Renu;
- Kulshreshtha, Samarth;
- Ramprasad, Vedam L.;
- Verma, Ishwar C.;
- Dua Puri, Ratna
Publication type:
Article
Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing.
Published in:
Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 5, p. 1, doi. 10.1002/mgg3.1633
By:
- Shastry, Arun;
- Aravind, Sankaramoorthy;
- Sunil, Meeta;
- Ramesh, Keerthi;
- Ashley, Berty;
- T., Nithyanandan;
- Ramprasad, Vedam L.;
- Gupta, Ravi;
- Seshagiri, Somasekar;
- Nongthomba, Upendra;
- Phalke, Sameer
Publication type:
Article
Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease.
Published in:
BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/940864
By:
- Battu, Rajani;
- Verma, Anshuman;
- Hariharan, Ramesh;
- Krishna, Shuba;
- Kiran, Ravi;
- Jacob, Jemima;
- Ganapathy, Aparna;
- Ramprasad, Vedam L.;
- Kumaramanickavel, Govindasamy;
- Jeyabalan, Nallathambi;
- Ghosh, Arkasubhra
Publication type:
Article
Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of C0L8A2 mutations in Fuchs endothelial corneal dystrophy.
Published in:
Journal of Human Genetics, 2014, v. 59, n. 8, p. 444, doi. 10.1038/jhg.2014.55
By:
- Soumittra, Nagasamy;
- Loganathan, Sampath K.;
- Madhavan, Dharanija;
- Ramprasad, Vedam L.;
- Arokiasamy, Tharigopala;
- Sumathi, Sundaram;
- Karthiyayini, Thirumalai;
- Rachapalli, Sudhir R.;
- Kumaramanickavel, Govindasamy;
- Casey, Joseph R.;
- Rajagopal, Rama
Publication type:
Article
A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1868, doi. 10.1002/ajmg.a.37654
By:
- Aggarwal, Shagun;
- Bhowmik, Aneek Das;
- Ramprasad, Vedam L.;
- Murugan, Sakthivel;
- Dalal, Ashwin
Publication type:
Article
A 32 kb Critical Region Excluding Y402H in CFH Mediates Risk for Age-Related Macular Degeneration.
Published in:
PLoS ONE, 2011, v. 6, n. 10, p. 1, doi. 10.1371/journal.pone.0025598
By:
- Sivakumaran, Theru A.;
- Igo, Jr., Robert P.;
- Kidd, Jeffrey M.;
- Itsara, Andy;
- Kopplin, Laura J.;
- Wei Chen;
- Hagstrom, Stephanie A.;
- Peachey, Neal S.;
- Francis, Peter J.;
- Klein, Michael L.;
- Chew, Emily Y.;
- Ramprasad, Vedam L.;
- Wan-Ting Tay;
- Mitchell, Paul;
- Seielstad, Mark;
- Stambolian, Dwight E.;
- Edwards, Albert O.;
- Lee, Kristine E.;
- Leontiev, Dmitry V.;
- Gyungah Jun
Publication type:
Article
Comprehensive germline profiling of patients with breast cancer: initial experience from a Familial Cancer Clinic.
Published in:
Ecancermedicalscience, 2024, v. 18, n. 1651-1674, p. 1, doi. 10.3332/ecancer.2024.1670
By:
- Pramanik, Raja;
- Chitikela, Sindhura;
- Deo, S. V. S.;
- Gogia, Ajay;
- Batra, Atul;
- Kumar, Akash;
- Gupta, Ritu;
- Thakral, Deepshi;
- Ramprasad, Vedam L.;
- Mathur, Sandeep;
- Sharma, D. N.;
- Sharma, Aparna;
- Mishra, Ashutosh;
- Bansal, Babul
Publication type:
Article
Retinoblastoma in India.
Published in:
Molecular Diagnosis & Therapy, 2007, v. 11, n. 1, p. 63, doi. 10.1007/BF03256223
By:
- Ramprasad, Vedam L.;
- Madhavan, Jagadeesan;
- Murugan, Sakthivel;
- Sujatha, Jagadeesh;
- Suresh, Seshadri;
- Sharma, Tarun;
- Kumaramanickavel, Govindasamy
Publication type:
Article
Chorea-acanthocytosis: 3 New Families with Novel Genetic and Metabolic Findings.
Published in:
2021
By:
- Abbas, Mirza Masoom;
- Thenral, SG;
- Ramprasad, Vedam L.;
- Walker, Ruth H.;
- Kukkle, Prashanth Lingappa
Publication type:
Letter to the Editor
Retinoblastoma genetics screening and clinical management.
Published in:
BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01034-6
By:
- Gupta, Himika;
- Malaichamy, Sivasankar;
- Mallipatna, Ashwin;
- Murugan, Sakthivel;
- Jeyabalan, Nallathambi;
- Suresh Babu, Vishnu;
- Ghosh, Anuprita;
- Ghosh, Arkasubhra;
- Santhosh, Sam;
- Seshagiri, Somasekar;
- Ramprasad, Vedam L.;
- Kumaramanickavel, Govindasamy
Publication type:
Article
Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2).
Published in:
Human Mutation, 2007, v. 28, n. 5, p. 522, doi. 10.1002/humu.9487
By:
- Ramprasad, Vedam L.;
- Ebenezer, Neil D.;
- Aung, Tin;
- Rajagopal, Rama;
- Yong, Victor H.K.;
- Tuft, Stephen J.;
- Viswanathan, Deepa;
- El-Ashry, Mohamed F.;
- Liskova, Petra;
- Tan, Donald T.H.;
- Bhattacharya, Shomi S.;
- Kumaramanickavel, Govindasamy;
- Vithana, Eranga N.
Publication type:
Article
Correction: A 32 kb Critical Region Excluding Y402H in CFH Mediates Risk for Age-Related Macular Degeneration.
Published in:
2018
By:
- Sivakumaran, Theru A.;
- Igo, Robert P.;
- Kidd, Jeffrey M.;
- Itsara, Andy;
- Kopplin, Laura J.;
- Chen, Wei;
- Hagstrom, Stephanie A.;
- Peachey, Neal S.;
- Francis, Peter J.;
- Klein, Michael L.;
- Chew, Emily Y.;
- Ramprasad, Vedam L.;
- Tay, Wan-Ting;
- Mitchell, Paul;
- Seielstad, Mark;
- Stambolian, Dwight E.;
- Edwards, Albert O.;
- Lee, Kristine E.;
- Leontiev, Dmitry V.;
- Jun, Gyungah
Publication type:
Correction Notice
Cost-efficient HIV-1 drug resistance surveillance using multiplexed high-throughput amplicon sequencing: implications for use in low- and middle-income countries.
Published in:
Journal of Antimicrobial Chemotherapy (JAC), 2014, v. 69, n. 12, p. 3349, doi. 10.1093/jac/dku278
By:
- Ekici, Halime;
- Rao, Shwetha D.;
- Sönnerborg, Anders;
- Ramprasad, Vedam L.;
- Gupta, Ravi;
- Neogi, Ujjwal
Publication type:
Article
Clinical Study of 668 Indian Subjects with Juvenile, Young, and Early Onset Parkinson's Disease.
Published in:
Canadian Journal of Neurological Sciences, 2022, v. 49, n. 1, p. 93, doi. 10.1017/cjn.2021.40
By:
- Kukkle, Prashanth L.;
- Goyal, Vinay;
- Geetha, Thenral S.;
- Mridula, Kandadai R.;
- Kumar, Hrishikesh;
- Borgohain, Rupam;
- Mukherjee, Adreesh;
- Wadia, Pettarusp M.;
- Yadav, Ravi;
- Desai, Soaham;
- Kumar, Niraj;
- Gupta, Ravi;
- Biswas, Atanu;
- Pal, Pramod K.;
- Muthane, Uday;
- Das, Shymal K.;
- Quinn, Niall;
- Ramprasad, Vedam L.
Publication type:
Article

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