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51

Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings

Prasad, Chitra, Melançon, Serge B., Rupar, C. Anthony, Prasad, Asuri N., Nunez, Laura Dempsey, Rosenblatt, David S., Majewski, Jacek

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 471 KB

english, 2013

52

Multiple Sulfatase Deficiency: Disease in search of a treatment!

Prasad, Chitra, Rupar, C. Anthony, Campbell, Craig, Napier, Melanie, Ramsay, David, Tay, K.Y., Sharan, Sapna, Prasad, Asuri N.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 79 KB

english, 2013

53

Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency

Farhan, Sali M. K., Wang, Jian, Robinson, John F., Lahiry, Piya, Siu, Victoria M., Prasad, Chitra, Kronick, Jonathan B., Ramsay, David A., Rupar, C. Anthony, Hegele, Robert A.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2014

Language:

english

File:

PDF, 1.51 MB

english, 2014

54

Discussion

Farhan, Sali M. K., Wang, Jian, Robinson, John F., Lahiry, Piya, Siu, Victoria M., Prasad, Chitra, Kronick, Jonathan B., Ramsay, David A., Rupar, C. Anthony, Hegele, Robert A.

Journal:

Journal of Vascular Surgery

Year:

1985

Language:

english

File:

PDF, 330 KB

english, 1985

55

Patient- and family-oriented outcomes for inborn errors of metabolism: The perspective of patient advocacy and support groups

Khangura, Sara D., Chakraborty, Pranesh, Coyle, Doug, Kronick, Jonathan B., Laberge, Anne-Marie, Little, Julian, Miller, Fiona, Mitchell, John J., Prasad, Chitra, Siriwardena, Komudi, Sparkes, Rebecca

Journal:

Clinical Biochemistry

Year:

2014

Language:

english

File:

PDF, 45 KB

english, 2014

56

Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information—A pilot project

Prasad, Chitra, DiRaimo, Jennifer, Napier, Melanie, Goobie, Sharan, Potter, Murray, Chakraborty, Pranesh, Karaceper, Maria, Schulze, Andreas, Rupar, Charles A.

Journal:

Clinical Biochemistry

Year:

2014

Language:

english

File:

PDF, 44 KB

english, 2014

57

Patient- and family-oriented outcomes for inborn errors of metabolism: A scoping review

Khangura, Sara D., Chakraborty, Pranesh, Coyle, Doug, Karaceper, Maria D., Kronick, Jonathan B., Laberge, Anne-Marie, Little, Julian, Miller, Fiona, Mitchell, John J., Prasad, Chitra, Siriwardena, Kom

Journal:

Clinical Biochemistry

Year:

2014

Language:

english

File:

PDF, 45 KB

english, 2014

58

Bottom Boundary Layer Characteristics in the Hooghly Estuary Under Combined Wave-Current Action

Arora, Chitra, Kumar, B. Prasad, Jain, Indu, Bhar, Ashoke, Narayana, A. C.

Journal:

Year:

2010

Language:

english

File:

PDF, 858 KB

english, 2010

59

[IEEE 2012 International Conference on Power, Signals, Controls and Computation (EPSCICON) - Thrissur, Kerala, India (2012.01.3-2012.01.6)] 2012 International Conference on Power, Signals, Controls and Computation - Enhancing flexibility and portability of Execution Preserving Language Transformation using Meta programming

Beevi, S Nadera, Prasad, D. Chitra, Chandra, S. S. Vinod

Year:

2012

Language:

english

File:

PDF, 104 KB

english, 2012

60

NUMERICAL MODELING OF SUSPENDED SEDIMENT CONCENTRATION AND ITS VALIDATION FOR THE HOOGHLY ESTUARY, INDIA

ARORA, CHITRA, BHASKARAN, PRASAD K.

Journal:

Coastal Engineering Journal

Year:

2013

Language:

english

File:

PDF, 1.15 MB

english, 2013

61

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

Jobling, Rebekah K., Assoum, Mirna, Gakh, Oleksandr, Blaser, Susan, Raiman, Julian A., Mignot, Cyril, Roze, Emmanuel, Dürr, Alexandra, Brice, Alexis, Lévy, Nicolas, Prasad, Chitra, Paton, Tara, Paters

Journal:

Year:

2015

Language:

english

File:

PDF, 1.34 MB

english, 2015

62

Comparison of body mass index, body fat percentage and neck circumference as tools for evaluation of obesity

Pillai, Chitra, Udhoji, Prasad, Rathod, Sachin, Pillai, Kanagasabapathy

Year:

2012

Language:

english

File:

PDF, 138 KB

english, 2012

63

Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups

Khangura, Sara D., Tingley, Kylie, Chakraborty, Pranesh, Coyle, Doug, Kronick, Jonathan B., Laberge, Anne-Marie, Little, Julian, Miller, Fiona A, Mitchell, John J., Prasad, Chitra, Siddiq, Shabnaz, Si

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 353 KB

english, 2016

64

Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007–2014)

Gannavarapu, Srinitya, Prasad, Chitra, DiRaimo, Jennifer, Napier, Melanie, Goobie, Sharan, Potter, Murray, Chakraborty, Pranesh, Karaceper, Maria, Munoz, Tatiana, Schulze, Andreas, MacKenzie, Jennifer

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 488 KB

english, 2015

65

Social media-based civic engagement solutions for dengue prevention in Sri Lanka: results of receptivity assessment

Lwin, May O., Vijaykumar, Santosh, Foo, Schubert, Fernando, Owen Noel Newton, Lim, Gentatsu, Panchapakesan, Chitra, Wimalaratne, Prasad

Journal:

Health Education Research

Year:

2015

Language:

english

File:

PDF, 133 KB

english, 2015

66

Ataxia-Telangiectasia: Atypical Presentation and Toxicity of Cancer Treatment

Yanofsky, Rochelle A., Seshia, Sashi S., Dawson, Angelika J., Stobart, Kent, Greenberg, Cheryl R., Booth, Frances A., Prasad, Chitra, Del Bigio, Marc R., Wrogemann, Jens J., Fike, Francesca, Gatti, Ri

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2009

File:

PDF, 357 KB

2009

67

Pyridoxine Dependent Epilepsy: Enduring Mystery and Continuing Challenges

Prasad, Asuri N., Prasad, Chitra

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2012

Language:

english

File:

PDF, 42 KB

english, 2012

68

Deletion of 15q11.2(BP1-BP2) region: Further evidence for lack of phenotypic specificity in a pediatric population

Hashemi, Bita, Bassett, Anne, Chitayat, David, Chong, Karen, Feldman, Mark, Flanagan, Janine, Goobie, Sharan, Kawamura, Anne, Lowther, Chelsea, Prasad, Chitra, Siu, Victoria, So, Joyce, Tung, Sharon,

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 182 KB

english, 2015

69

Identification of Novel Anti-inflammatory Agents from Ayurvedic Medicine for Prevention of Chronic Diseases: “Reverse Pharmacology” and “Bedside to Bench” Approach

B. Aggarwal, Bharat, Prasad, Sahdeo, Reuter, Simone, Kannappan, Ramaswamy, R. Yadav, Vivek, Park, Byoungduck, Hye Kim, Ji, C. Gupta, Subash, Phromnoi, Kanokkarn, Sundaram, Chitra, Prasad, Seema, M. Ch

Journal:

Current Drug Targets

Year:

2011

Language:

english

File:

PDF, 935 KB

english, 2011

70

Ornithine Transcarbamylase Deficiency Presenting as Recurrent Abdominal Pain in Childhood

Mhanni, Aizeddin A., Prasad, Chitra, Rockman-Greenberg, Cheryl

Journal:

Pediatric Emergency Care

Year:

2011

Language:

english

File:

PDF, 223 KB

english, 2011

71

Crotepoxide chemosensitizes tumor cells through inhibition of expression of proliferation, invasion, and angiogenic proteins linked to proinflammatory pathway.

Prasad, Sahdeo, Yadav, Vivek R., Sundaram, Chitra, Reuter, Simone, Hema, Padmanabhan S., Nair, Mangalam S., Chaturvedi, Madan M., Aggarwal, Bharat B.

Journal:

Journal of Biological Chemistry

Year:

2016

Language:

english

File:

PDF, 40 KB

english, 2016

72

Fumarase deficiency

Prasad, Charushree, Napier, Melanie P., Rupar, Charles A., Prasad, Chitra

Journal:

Clinical Dysmorphology

Year:

2017

Language:

english

File:

PDF, 203 KB

english, 2017

73

Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood

Edvardson, Simon, Nicolae, Claudia M., Agrawal, Pankaj B., Mignot, Cyril, Payne, Katelyn, Prasad, Asuri Narayan, Prasad, Chitra, Sadler, Laurie, Nava, Caroline, Mullen, Thomas E., Begtrup, Amber, Bask

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 861 KB

english, 2017

74

A study on variations of musculocutaneous nerve and median nerve in the arm

Sasidhar, P., Prasad, K.S.N., Chitra,, Syamala, G.

Journal:

Journal of Anatomical Society of India

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

75

A study of duct system of pancreas and its variations

Malathi, K., Prasad, K.S.N., Chitra, R.

Journal:

Journal of Anatomical Society of India

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

76

Eight-year-old girl with hepatomegaly

Chen, Becky Biqi, Prasad, Chitra, Walsh, Joanna C., Ashok, Dhandapani

Journal:

Paediatrics & child health

Year:

2017

Language:

english

File:

PDF, 162 KB

english, 2017

77

Congenital rickets caused by maternal vitamin D deficiency

Innes, A Micheil, Seshia, Molly M, Prasad, Chitra, Al Saif, Saif, Friesen, Frank R, Chudley, Albert E, Reed, Martin, Dilling, Louise A, Haworth, James C, Greenberg, Cheryl R

Journal:

Paediatrics & child health

Year:

2002

Language:

english

File:

PDF, 93 KB

english, 2002

78

Magnetic resonance imaging in the diagnosis of white matter signal abnormalities

Datar, Ravi, Prasad, Asuri Narayan, Tay, Keng Yeow, Rupar, Charles Anthony, Ohorodnyk, Pavlo, Miller, Michael, Prasad, Chitra

Journal:

The Neuroradiology Journal

Year:

2018

Language:

english

File:

PDF, 500 KB

english, 2018

79

Incidence of medium-chain acyl-CoA dehydrogenase deficiency in Canada using the Canadian Paediatric Surveillance Program: Role of newborn screening

Prasad, Chitra, Speechley, Kathy N, Dyack, Sarah, Rupar, Charles A, Chakraborty, Pranesh, Kronick, Jonathan B

Journal:

Paediatrics & child health

Year:

2012

File:

PDF, 1.04 MB

2012

80

Rapid Reactivation of Open Coil Springs: A Novel Approach

Chitra, Prasad, Dahiya, Sagar, Mathur, Anirudh K

Journal:

Orthodontic Journal of Nepal

Year:

2016

Language:

english

File:

PDF, 970 KB

english, 2016

81

Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3

Zapata-Aldana, Eugenio, Kim, David Dongkyung, Remtulla, Salma, Prasad, Chitra, Nguyen, Cam-Tu, Campbell, Craig

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 1.16 MB

english, 2018

82

Nephrological and urological complications of homozygous c.974G>A (p.Arg325Gln) OSGEP mutations

Wang, Peter Zhan Tao, Prasad, Chitra, Rodriguez Cuellar, Carmen Inés, Filler, Guido

Journal:

Pediatric Nephrology

Year:

2018

Language:

english

File:

PDF, 1.58 MB

english, 2018

83

Twinkle-associated mitochondrial DNA depletion

Remtulla, Salma, Nguyen, Cam-Tu, Prasad, Chitra, Campbell, Craig

Journal:

Pediatric Neurology

Year:

2018

Language:

english

File:

PDF, 196 KB

english, 2018

84

Determination of Bolton Norms for Indian Population Sample

Kumar, TV Pawan, Chitra, Prasad

Journal:

Orthodontic Journal of Nepal

Year:

2018

Language:

english

File:

PDF, 184 KB

english, 2018

85

The Extraction-Non Extraction Conundrum and the Role of Self Ligation in Present Day Mechanotherapy

Dahiya, Sagar, Negi, Gunjan, Arya, Anmol, Chitra, Prasad

Journal:

Orthodontic Journal of Nepal

Year:

2018

File:

PDF, 2.87 MB

2018

86

The Extraction-Non Extraction Conundrum and the Role of Self Ligation in Present Day Mechanotherapy

Dahiya, Sagar, Negi, Gunjan, Arya, Anmol, Chitra, Prasad

Journal:

Orthodontic Journal of Nepal

Year:

2018

Language:

english

File:

PDF, 2.87 MB

english, 2018

87

Bulging anterior fontanelle and dense bones in an infant

Halgren, Camilla Raya, Lakhani, Jenna, Colaiacovo, Samantha, Prasad, Chitra

Journal:

Paediatrics & child health

Year:

2019

Language:

english

File:

PDF, 178 KB

english, 2019

88

Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease: Case and Review

Le, Christine, Prasad, Asuri N., Rupar, C. Anthony, Debicki, Derek, Andrade, Andrea, Prasad, Chitra

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2019

File:

PDF, 350 KB

2019

89

Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease: Case and Review

Le, Christine, Prasad, Asuri N., Rupar, C. Anthony, Debicki, Derek, Andrade, Andrea, Prasad, Chitra

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2019

File:

PDF, 350 KB

2019

90

Photogrammetric reliability of frontal facial photographs with radiographs and anthropometric measurements

Negi, Gunjan, Chitra, Prasad

Journal:

Journal of Oral Biology and Craniofacial Research

Year:

2019

Language:

english

File:

PDF, 836 KB

english, 2019

91

Assessment of Maize Production and Adoption of Improved Maize Seeds in Tanahun District of Nepal

Pandey, Kailash Prasad, Shrestha, Bijay, Naharki, Kushal, Kunwar, Chitra Bahadur

Journal:

International Journal of Applied Sciences and Biotechnology

Year:

2019

File:

PDF, 631 KB

2019

92

A Comparison of the Efficacy of a Primerless Orthodontic Bonding Adhesive as Compared to Conventional Materials: an Invitro Study

Journal:

Dental Journal of Advance Studies

Year:

2016

Language:

english

File:

PDF, 694 KB

english, 2016

93

High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses

Jilani, Abdulhakim, Matviychuk, Diana, Blaser, Susan, Dyack, Sarah, Mathieu, Jean, Prasad, Asuri N., Prasad, Chitra, Kyriakopoulou, Lianna, Mercimek‐Andrews, Saadet

Journal:

Year:

2019

Language:

english

File:

PDF, 1.54 MB

english, 2019

94

A new combination mirror with template for intraoral photography

Prakash, Ashwin, Pulgaonkar, Rohan, Chitra, Prasad

Journal:

The Journal of Indian Orthodontic Society

Year:

2016

Language:

english

File:

PDF, 794 KB

english, 2016

95

Molecular characterization and functional analysis of the vitellogenin receptor from eri silkworm, Samia ricini

Thomas, Dyna Susan, Varma, Meenakshi, Manoharan, Chitra, Rao, Guru Prasad, Vijayan, Kunjupillai, Mishra, Rakesh Kumar, Gopalapillai, Ravikumar, Sinha, Deepak Kumar

Journal:

Comparative Biochemistry and Physiology Part B: Biochemistry and Molecular Biology

Year:

2020

File:

PDF, 1.25 MB

2020

96

Use of complementary and alternative medicine in patients with inborn errors of metabolism: A singleâcenter study

Tao, Jessica, Rupar, C. Anthony, Miller, Michael R., Ratko, Suzanne, Prasad, Chitra

Journal:

Year:

2020

Language:

english

File:

PDF, 951 KB

english, 2020

97

A New Approach to Prevent Crown Loosening and Caries in the AdvanSync2 Class II Corrector

Journal:

The Journal of Indian Orthodontic Society

Year:

2020

Language:

english

File:

PDF, 1.62 MB

english, 2020

98

Primary duodenal tuberculosis - A rare case report

Sah, Mukesh Prasad, Gautam, Santosh, Sharma, Chitra Raj, Ahmed, Dewan Saifuddin

Journal:

Journal of Pathology of Nepal

Year:

2018

File:

PDF, 431 KB

2018

99

Further delineation of BaselâVanagaiteâSmirinâYosef syndrome: Report of three patients

Haynes, Devon, Pollack, Lynda, Prasad, Chitra, Goobie, Sharan, Colaiacovo, Samantha, Wolfinger, Tara, Lacassie, Yves

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 7.18 MB

2020

100

Microcystic Meningiomas: MRIâPathologic Correlation

Kulanthaivelu, Karthik, Lanka, Vivek, Chandran, Chitra, Nandeesh, Bevinhalli N., Tiwari, Sarbesh, Mahadevan, Anita, Prasad, Chandrajit, Saini, Jitender, Bhat, Maya D., Chakrabarti, Dhritiman, Pruthi,

Journal:

Journal of Neuroimaging

Year:

2020

File:

PDF, 22.59 MB

2020