Primordial dwarfism: overview of clinical and genetic aspects
Khetarpal, Preeti, Das, Satrupa, Panigrahi, Inusha, Munshi, Anjana
Published in Molecular genetics and genomics : MGG (01.02.2016)
Published in Molecular genetics and genomics : MGG (01.02.2016)
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Journal Article
Book Review
Non-immune hydrops fetalis due to infantile sialidosis
Panigrahi, Inusha, Grover, Sudhanshu, Hiranandani, Mahesh, Sheth, Jayesh
Published in Pediatrics and neonatology (01.03.2024)
Published in Pediatrics and neonatology (01.03.2024)
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Journal Article
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery
Toriyama, Michinori, Lee, Chanjae, Taylor, S Paige, Duran, Ivan, Cohn, Daniel H, Bruel, Ange-Line, Tabler, Jacqueline M, Drew, Kevin, Kelly, Marcus R, Kim, Sukyoung, Park, Tae Joo, Braun, Daniela A, Pierquin, Ghislaine, Biver, Armand, Wagner, Kerstin, Malfroot, Anne, Panigrahi, Inusha, Franco, Brunella, Al-lami, Hadeel Adel, Yeung, Yvonne, Choi, Yeon Ja, Duffourd, Yannis, Faivre, Laurence, Rivière, Jean-Baptiste, Chen, Jiang, Liu, Karen J, Marcotte, Edward M, Hildebrandt, Friedhelm, Thauvin-Robinet, Christel, Krakow, Deborah, Jackson, Peter K, Wallingford, John B
Published in Nature genetics (01.06.2016)
Published in Nature genetics (01.06.2016)
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Journal Article
Web Resource
CRELD1 gene variants and atrioventricular septal defects in Down syndrome
Asim, Ambreen, Agarwal, Sarita, Panigrahi, Inusha, Sarangi, Aditya Narayan, Muthuswamy, Srinivasan, Kapoor, Aditya
Published in Gene (30.01.2018)
Published in Gene (30.01.2018)
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Journal Article
Components of IGF-axis in growth disorders: a systematic review and patent landscape report
Singh, Amit, Pajni, Ketan, Panigrahi, Inusha, Dhoat, Navdeep, Senapati, Sabyasachi, Khetarpal, Preeti
Published in Endocrine (01.06.2022)
Published in Endocrine (01.06.2022)
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Journal Article
Chromosomal Duplication Syndromes: A Case Series
Panigrahi, Inusha, Shariq, Mohammed, Bamba, Chitra, Kaur, Ramandeep, Bhatt, Yogita, Srivastava, Priyanka
Published in Neurology India (01.01.2024)
Published in Neurology India (01.01.2024)
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Journal Article
Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population
Srivastava, Priyanka, Bamba, Chitra, Chopra, Seema, Rohilla, Minakshi, Chaudhry, Chakshu, Kaur, Anupriya, Panigrahi, Inusha, Mandal, Kausik
Published in Frontiers in genetics (16.05.2023)
Published in Frontiers in genetics (16.05.2023)
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Journal Article
Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India
Panigrahi, Inusha, Rao, Sudha, Verma Kumar, Shalu, Kumari, Divya, Kaur, Parminder
Published in Case reports in genetics (22.08.2024)
Published in Case reports in genetics (22.08.2024)
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Journal Article
Estrogen Receptor 1 Gene Polymorphism and its Association with Idiopathic Short Stature in a North Indian Population
Patel, Ravi Shankar, Daniel, Roshan, Bhardwaj, Chitra, Kumari, Anu, Bawa, Pratibha, Tyagi, Ankita, Dayal, Devi, Kaur, Anupriya, Panigrahi, Inusha, Kaur, Harvinder, Srivastava, Priyanka
Published in Journal of clinical research in pediatric endocrinology (01.09.2024)
Published in Journal of clinical research in pediatric endocrinology (01.09.2024)
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Journal Article
Study of Prothrombotic Gene Variations Associated with the Risk of Development of Thrombosis in Patients with Down Syndrome
Kataru, Chandreswara Raju, Krishnakumar, Vinodhini, Panigrahi, Inusha, Kannan, Meganathan
Published in Indian journal of hematology & blood transfusion (01.07.2021)
Published in Indian journal of hematology & blood transfusion (01.07.2021)
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Journal Article
Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation
Sheth, Jayesh, Bhavsar, Riddhi, Mistri, Mehul, Pancholi, Dhairya, Bavdekar, Ashish, Dalal, Ashwin, Ranganath, Prajnya, Girisha, Katta M, Shukla, Anju, Phadke, Shubha, Puri, Ratna, Panigrahi, Inusha, Kaur, Anupriya, Muranjan, Mamta, Goyal, Manisha, Ramadevi, Radha, Shah, Raju, Nampoothiri, Sheela, Danda, Sumita, Datar, Chaitanya, Kapoor, Seema, Bhatwadekar, Seema, Sheth, Frenny
Published in BMC medical genetics (14.02.2019)
Published in BMC medical genetics (14.02.2019)
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Journal Article
SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries
Srivastava, Priyanka, Tyagi, Ankita, Bamba, Chitra, Kumari, Anu, Kaur, Harvinder, Seth, Saurabh, Kaur, Anupriya, Panigrahi, Inusha, Dayal, Devi, Pramanik, Subhodip, Mandal, Kausik
Published in Journal of clinical research in pediatric endocrinology (01.03.2024)
Published in Journal of clinical research in pediatric endocrinology (01.03.2024)
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Journal Article
Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians
Kaur, Parminder, Panigrahi, Inusha, Kaur, Harleen, Singh, Thakurvir, Chaudhry, Chakshu
Published in Case reports in genetics (03.11.2021)
Published in Case reports in genetics (03.11.2021)
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Journal Article
Severe early onset obesity due to a novel missense mutation in exon 3 of leptin gene in an infant from Northwest India
Dayal, Devi, Seetharaman, Keerthivasan, Panigrahi, Inusha, Balasubramaniyan, Muthuvel, Agarwal, Ashish
Published in Journal of clinical research in pediatric endocrinology (01.09.2018)
Published in Journal of clinical research in pediatric endocrinology (01.09.2018)
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Journal Article
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India
Sheth, Harsh, Nair, Aadhira, Bhavsar, Riddhi, Kamate, Mahesh, Gowda, Vykuntaraju K, Bavdekar, Ashish, Kadam, Sandeep, Nampoothiri, Sheela, Panigrahi, Inusha, Kaur, Anupriya, Shah, Siddharth, Mehta, Sanjeev, Jagadeesan, Sujatha, Suresh, Indrani, Kapoor, Seema, Bajaj, Shruti, Devi, Radha Rama, Prajapati, Ashka, Godbole, Koumudi, Patel, Harsh, Luhar, Zulfiqar, Shah, Raju C, Iyer, Anand, Bijarnia, Sunita, Puri, Ratna, Muranjan, Mamta, Shah, Ami, Magar, Suvarna, Gupta, Neerja, Tayade, Naresh, Gandhi, Ajit, Sowani, Ajit, Kale, Shrutikaa, Jalan, Anil, Solanki, Dhaval, Dalal, Ashwin, Mane, Shrikant, Prabha, C Ratna, Sheth, Frenny, Joshi, Chaitanya G, Joshi, Madhvi, Sheth, Jayesh
Published in Human genomics (10.05.2024)
Published in Human genomics (10.05.2024)
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Journal Article