Ishwar Chander Verma: search on Z-Library

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1

Noninvasive Diagnosis of Fetal Gender: Utility of Combining DYS14 and SRY

Jacob, Rintu Rebecca, Saxena, Renu, Verma, Ishwar Chander

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2015

Language:

english

File:

PDF, 128 KB

english, 2015

2

Variability in CYP2C9 allele frequency: A pilot study of its predicted impact on warfarin response among healthy South and North Indians

Nahar, Risha, Deb, Roumi, Saxena, Renu, Puri, Ratna Dua, Verma, Ishwar Chander

Journal:

Pharmacological Reports

Year:

2013

Language:

english

File:

PDF, 223 KB

english, 2013

3

Noninvasive Prenatal Testing: The Indian Perspective

Verma, Ishwar Chander

Journal:

Journal of Fetal Medicine

Year:

2014

Language:

english

File:

PDF, 272 KB

english, 2014

4

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

5

ALG9 Associated Gillessen-Kaesbach–Nishimura Syndrome (GIKANIS): An Uncommon Aetiology of Enlarged Foetal Kidneys

Arora, Veronica, Shah, Nupur, Khatter, Sangeeta, Puri, Ratna Dua, Kumar, Reema, Gupta, Pallav, Bijarnia-Mahay, Sunita, Verma, Ishwar Chander

Journal:

Journal of Fetal Medicine

Year:

2018

Language:

english

File:

PDF, 618 KB

english, 2018

6

Co-existence of CPAM with Megacystis Due to Posterior Urethral Valve and Cardiac Dysfunction in a Monozygotic Twin Pregnancy

Arora, Veronica, Bijarnia-Mahay, Sunita, Lall, Meena, Verma, Ishwar Chander

Journal:

Journal of Fetal Medicine

Year:

2019

Language:

english

File:

PDF, 4.56 MB

english, 2019

7

Mutation Studies in the CFTR Gene in Asian Indian Subjects with Congenital Bilateral Absence of Vas Deferens: Report of Two Novel Mutations and Four Novel Variants

Sachdeva, Kabir, Saxena, Renu, Majumdar, Abha, Chadha, Sudhir, Verma, Ishwar Chander

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2011

Language:

english

File:

PDF, 266 KB

english, 2011

8

Inborn errors of amino acid metabolism in North India

Manjeet Kaur, Ganesh Prasad, Ishwar Chander Verma

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 270 KB

english, 1994

9

Use of Ethnicity-Specific Sequence Tag Site Markers for Y Chromosome Microdeletion Studies

Sachdeva, Kabir, Saxena, Renu, Majumdar, Abha, Chadda, Sudhir, Verma, Ishwar Chander

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2011

Language:

english

File:

PDF, 311 KB

english, 2011

10

Is the diagnostic yield influenced by the indication for fetal autopsy?

Puri, Ratna Dua, Kotecha, Udhaya, Lall, Meena, Dash, Pratima, Bijarnia-Mahay, Sunita, Verma, Ishwar Chander

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 263 KB

english, 2016

11

Enzyme studies in GM2gangliosidiosis, and their application in prenatal diagnosis

Manjeet Kaur, Ishwar Chander Verma

Journal:

Indian Journal of Pediatrics

Year:

1995

Language:

english

File:

PDF, 280 KB

english, 1995

12

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

13

Microphthalmos and anterior segment dysgenesis in a family

Ghose, Supriyo, Singh, Narinder Pal, Kaur, Daljeet, Verma, Ishwar Chander

Journal:

Ophthalmic Genetics

Year:

1991

Language:

english

File:

PDF, 414 KB

english, 1991

14

Mitochondrial Neurogastrointestinal Encephalomyopathy Mimicking Anorexia Nervosa

FEDDERSEN, BEREND, DE LA FONTAINE, LARISSA, SASS, JÖRN OLIVER, LUTZ, JURGEN, ABICHT, ANGELA, KLOPSTOCK, THOMAS, VERMA, ISHWAR CHANDER, MEISENZAHL, EVA, POGARELL, OLIVER

Journal:

American Journal of Psychiatry

Year:

2009

Language:

english

File:

PDF, 107 KB

english, 2009

15

A novel CHEK2 variant identified by next generation sequencing in an Indian family with hereditary breast cancer syndrome

Bhai, Pratibha, Saxena, Renu, Kulshrestha, Samarth, Verma, Ishwar Chander

Journal:

Cancer Genetics

Year:

2019

Language:

english

File:

PDF, 702 KB

english, 2019

16

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

17

Conformational Change of UGT1A1 by a Novel Missense Mutation (p.L131P) Causing Crigler-Najjar Syndrome Type I

Maruo, Yoshihiro, Verma, Ishwar Chander, Matsui, Katsuyuki, Takahashi, Hiroko, Mimura, Yu, Ota, Yoriko, Mori, Asami, Saxena, Renu, Sato, Hiroshi, Takeuchi, Yoshihiro

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

2008

Language:

english

File:

PDF, 194 KB

english, 2008

18

Fetal valproate syndrome as a phenocopy of Kleefstra syndrome

Arora, Veronica, Joshi, Anju, Lall, Meena, Agarwal, Shruti, Bijarnia Mahay, Sunita, Dua puri, Ratna, Chander Verma, Ishwar

Journal:

Birth Defects Research

Year:

2018

Language:

english

File:

PDF, 805 KB

english, 2018

19

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

20

Single Nucleotide Polymorphism-Based Noninvasive Prenatal Testing: Experience in India

Verma, Ishwar Chander, Puri, Ratna, Venkataswamy, Eswarachary, Tayal, Tulika, Nampoorthiri, Sheela, Andrew, Chitra, Kabra, Madhulika, Bagga, Rashmi, Gowda, Mamatha, Batra, Meenu, Hegde, Sridevi, Kaul,

Journal:

The Journal of Obstetrics and Gynecology of India

Year:

2018

Language:

english

File:

PDF, 826 KB

english, 2018

21

A novel CHEK2 variant identified by next generation sequencing in an Indian family with hereditary breast cancer syndrome

Bhai, Pratibha, Saxena, Renu, Kulshrestha, Samarth, Verma, Ishwar Chander

Journal:

Cancer Genetics

Year:

2019

File:

PDF, 702 KB

2019

22

Co-existence of CPAM with Megacystis Due to Posterior Urethral Valve and Cardiac Dysfunction in a Monozygotic Twin Pregnancy

Arora, Veronica, Bijarnia-Mahay, Sunita, Lall, Meena, Verma, Ishwar Chander

Journal:

Journal of Fetal Medicine

Year:

2019

File:

PDF, 4.56 MB

2019

23

Genetic Testing in Pediatric Ophthalmology

Verma, Ishwar Chander, Paliwal, Preeti, Singh, Kanika

Journal:

Indian Journal of Pediatrics

Year:

2017

Language:

english

File:

PDF, 430 KB

english, 2017

24

Absent/Hypoplastic Fetal Nasal Bone and Its Association with Aneuploidies

Dash, Pratima, Puri, Ratna Dua, Goyal, Manisha, Bijarnia, Sunita, Lall, Meena, Kotecha, Udhaya, Verma, Ishwar Chander

Journal:

Journal of Fetal Medicine

Year:

2015

Language:

english

File:

PDF, 417 KB

english, 2015

25

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

26

Genetic Testing in Pediatric Kidney Disease

Arora, Veronica, Anand, Kanav, Chander Verma, Ishwar

Journal:

Indian Journal of Pediatrics

Year:

2020

File:

PDF, 247 KB

2020

27

A further case of hypotonia, ataxia, developmental delay and tooth enamel defect syndrome due to a recurrent C-terminal binding protein 1 mutation

Bhatia, Sameer Kumar, Arora, Veronica, Verma, Ishwar Chander

Journal:

Clinical Dysmorphology

Year:

2020

File:

PDF, 342 KB

2020

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