Sudha Kohli: search on Z-Library

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1

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

Bijarnia-Mahay, Sunita, Häberle, Johannes, Jalan, Anil B., Puri, Ratna Dua, Kohli, Sudha, Kudalkar, Ketki, Rüfenacht, Véronique, Gupta, Deepti, Maurya, Deepshikha, Verma, Jyotsna, Shigematsu, Yosuke,

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 772 KB

english, 2018

2

Entropy vs standard clinical monitoring using total intravenous anesthesia during transvaginal oocyte retrieval in patients for in vitro fertilization

Tewari, Saipriya, Bhadoria, Poonam, Wadhawan, Sonia, Prasad, Sudha, Kohli, Amit

Journal:

Journal of Clinical Anesthesia

Year:

2016

Language:

english

File:

PDF, 400 KB

english, 2016

3

Elevational plant species richness patterns and their drivers across non-endemics, endemics and growth forms in the Eastern Himalaya

Manish, Kumar, Pandit, Maharaj K., Telwala, Yasmeen, Nautiyal, Dinesh C., Koh, Lian Pin, Tiwari, Sudha

Journal:

Journal of Plant Research

Year:

2017

Language:

english

File:

PDF, 2.58 MB

english, 2017

4

Cisapride improves gallbladder emptying and bile lipid composition in patients with gallstones

Radha K Dhiman, Rajashekhar Reddi, Arpita Sharma, Rajinder Singh, Krishan K Kohli, Sanjay Gupta, Sudha Suri, Yogesh Chawla

Journal:

Journal of Gastroenterology and Hepatology

Year:

2001

Language:

english

File:

PDF, 97 KB

english, 2001

5

Intraoperative opioid dosing in children with and without cerebral palsy

LAWRENCE S. LONG, SUDHA VED, JEFFREY L. KOH

Journal:

Pediatric Anesthesia

Year:

2009

Language:

english

File:

PDF, 78 KB

english, 2009

6

RETRACTED ARTICLE: Kearns Sayre Syndrome—Case Report with Review of Literature

Meghana Phadke, M. R. Lokeshwar, Shraddha Bhutada, Chandralekha Tampi, Renu Saxena, Sudha Kohli, K. N. Shah

Journal:

Indian Journal of Pediatrics

Year:

2012

Language:

english

File:

PDF, 272 KB

english, 2012

7

Mutation Analysis in Crigler-Najjar Syndrome Type II—Case Report and Literature Review

Piyush Ranjan, Sudha Kohli, Renu Saxena, Seema Thakur

Journal:

Journal of Clinical and Experimental Hepatology

Year:

2011

Language:

english

File:

PDF, 98 KB

english, 2011

8

Molecular Characterisation and Prenatal Diagnosis of Asparto-acylase Deficiency (Canavan Disease)—Report of Two Novel and Two Known Mutations from the Indian Subcontinent

Sunita Bijarnia, Sudha Kohli, Ratna Dua Puri, Rintu J. Jacob, Renu Saxena, Anil Jalan, Eric A. Sistermans, Saqib Mahmood, Ishwar Chander Verma

Journal:

Indian Journal of Pediatrics

Year:

2013

Language:

english

File:

PDF, 477 KB

english, 2013

9

Alterations in gallbladder emptying and bile lithogenicity in post-menopausal women on hormone replacement therapy

Radha K Dhiman, Pralay K Sarkar, Arpita Sharma, Kala Vasistha, Krishan K Kohli, Sanjay Gupta, Sudha Suri, Yogesh Chawla

Journal:

American Journal of Gastroenterology

Year:

2002

Language:

english

File:

PDF, 24 KB

english, 2002

10

Hemoglobinopathies in India—Clinical and Laboratory Aspects

Verma, Ishwar C., Saxena, Renu, Kohli, Sudha

Journal:

Clinics in Laboratory Medicine

Year:

2012

Language:

english

File:

PDF, 305 KB

english, 2012

11

Mutation Analysis of the CFTR Gene in 225 Children: Identification of Five Novel Severe and Seven Reported Severe Mutations

Sachdeva, Kabir, Saxena, Renu, Puri, Ratna, Bijarnia, Sunita, Kohli, Sudha, Verma, Ishwar Chander

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2012

Language:

english

File:

PDF, 94 KB

english, 2012

12

Molecular studies of achondroplasia

Verma, IshwarChandra, Nahar, Risha, Saxena, Renu, Kohli, Sudha, Puri, Ratna

Journal:

Indian Journal of Orthopaedics

Year:

2009

Language:

english

File:

PDF, 260 KB

english, 2009

13

Gene changes in Duchenne muscular dystrophy: Comparison of multiplex PCR and multiplex ligation-dependent probe amplification techniques

Kohli, Sudha, Saxena, Renu, Thomas, Elizabeth, Singh, Jyoti, Verma, IshwarC

Journal:

Neurology India

Year:

2010

Language:

english

File:

PDF, 436 KB

english, 2010

14

Identification of Mutations, Genotype-Phenotype Correlation and Prenatal Diagnosis of Maple Syrup Urine Disease in Indian patients

Gupta, Deepti, Bijarnia-Mahay, Sunita, Saxena, Renu, Kohli, Sudha, Dua-Puri, Ratna, Verma, Jyotsna, Thomas, E., Shigematsu, Yosuke, Yamaguchi, Seiji, Deb, Roumi, Verma, Ishwar Chander

Journal:

European Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 1.35 MB

english, 2015

15

Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes

Gupta, Deepti, Bijarnia-Mahay, Sunita, Kohli, Sudha, Saxena, Renu, Puri, Ratna Dua, Shigematsu, Yosuke, Yamaguchi, Seiji, Sakamoto, Osamu, Gupta, Neerja, Kabra, Madhulika, Thakur, Seema, Deb, Roumi, V

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2016

Language:

english

File:

PDF, 313 KB

english, 2016

16

Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders

Verma, Jyotsna, C. Thomas, Divya, Sharma, Sandeepika, Jhingan, Geetu, Saxena, Renu, Kohli, Sudha, Puri, Ratna D., Bijarnia, Sunita, Verma, Ishwar C.

Journal:

Prenatal Diagnosis

Year:

2015

Language:

english

File:

PDF, 812 KB

english, 2015

17

RANBP2 mutation in an Indian child with recurrent acute necrotizing encephalopathy

Sondhi, Vishal, Chakrabarty, Biswaroop, Kumar, Atin, Kohli, Sudha, Saxena, Renu, Verma, I.C., Gulati, Sheffali

Journal:

Brain and Development

Year:

2016

Language:

english

File:

PDF, 817 KB

english, 2016

18

Infantile Systemic Hyalinosis: Novel Founder Mutation in the Initiation Codon among “Malis (Farmers)” in Jodhpur

Soni, Jai Prakash, Puri, Ratna D., Jetha, Kapil, Bhavani, G. S. L., Chaudhary, Monika, Kohli, Sudha, Verma, I. C.

Journal:

Indian Journal of Pediatrics

Year:

2016

Language:

english

File:

PDF, 732 KB

english, 2016

19

NOS3 gene Glu298Asp polymorphism and severity of disease in patients of ADPKD from North India

Pandita, Shewata, Ramachandran, Vijaya, Verma, Jyotsna, Kohli, Sudha, Saxena, Renu, Verma, Ishwar Chander

Journal:

Year:

2017

Language:

english

File:

PDF, 413 KB

english, 2017

20

Identification of a Novel TAZ Gene Mutation in a Family With X-Linked Dilated Cardiomyopathy Barth Syndrome

Borkar, Minal, Bijarnia-Mahay, Sunita, Kohli, Sudha, Juneja, Monica, Srivastava, Yogesh, Saxena, Renu, Verma, Ishwar C.

Journal:

Journal of Inborn Errors of Metabolism & Screening

Year:

2015

Language:

english

File:

PDF, 572 KB

english, 2015

21

The changing scenario in prenatal diagnosis of genetic disorders: Genetics to genomics

Bijarnia-Mahay, Sunita, Arora, Veronica, Puri, Ratna Dua, Lall, Meena, Saxena, Renu, Verma, Jyotsna, Baijal, Ashok, Dimri, Nandita, Sharma, Nidhish, Kohli, Sudha, Dubey, Sudhisha, Gupta, Deepti, Savio

Journal:

Current Medicine Research and Practice

Year:

2018

Language:

english

File:

PDF, 482 KB

english, 2018

22

Evaluating the Utility of Next Generation Sequencing Technology in the Diagnosis and Prevention of Genetic Disorders in India, the Early Experiences

Kotecha, Udhaya, Puri, Ratna, Bijarnia, Sunita, Kohli, Sudha, Saxena, Renu, Verma, Ishwar

Journal:

Journal of Fetal Medicine

Year:

2019

Language:

english

File:

PDF, 195 KB

english, 2019

23

Mutation Spectrum of Dystrophinopathies in India: Implications for Therapy

Kohli, Sudha, Saxena, Renu, Thomas, Elizabeth, Singh, Kuldeep, Bijarnia Mahay, Sunita, Puri, Ratna Dua, Verma, Ishwar Chander

Journal:

Indian Journal of Pediatrics

Year:

2020

File:

PDF, 594 KB

2020

24

Carrier screening of spinal muscular atrophy in North Indian population and its public health implications

Verma, Ishwar C., Kohli, Sudha, Shenbagam, Shruti, BijarniaâMahay, Sunita, DuaPuri, Ratna, Saxena, Renu

Journal:

Clinical Genetics

Year:

2020

File:

PDF, 365 KB

2020

25

NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results â a pilot study

Singh, Kanika, Bijarnia-Mahay, Sunita, Ramprasad, V. L., Puri, Ratna Dua, Nair, Sandhya, Sharda, Sheetal, Saxena, Renu, Kohli, Sudha, Kulshreshtha, Samarth, Ganguli, Indrani, Gujral, Kanwal, Verma, Is

Journal:

BMC Medical Genetics

Year:

2020

File:

PDF, 902 KB

2020