Phadke, Shubha R: search on Z-Library

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1

Brothers with hypospadias, vertebral segmentation defects, and intellectual disability: New syndrome?

Phadke, Shubha R., Ranganath, Prajnya, Boggula, Vijay Raju, Gupta, Divya, Phadke, Rajendra V., Sloman, Melissa, Turnpenny, Peter D.

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 382 KB

english, 2012

2

Study of the association of forkhead box P3 (FOXP3) gene polymorphisms with unexplained recurrent spontaneous abortions in Indian population

Mishra, Shivani, Srivastava, Anukool, Mandal, Kausik, Phadke, Shubha R.

Journal:

Journal of Genetics

Year:

2018

Language:

english

File:

PDF, 354 KB

english, 2018

3

Untapped opportunities for rare disease gene discovery in India

Girisha, Katta Mohan, Pande, Shruti, Dalal, Ashwin, Phadke, Shubha R.

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 643 KB

2020

4

Concepts, Utility and Limitations of Cord Blood Banking: What Clinicians Need to Know

Narayanan, Dhanya Lakshmi, Phadke, Shubha R.

Journal:

Indian Journal of Pediatrics

Year:

2018

Language:

english

File:

PDF, 336 KB

english, 2018

5

Recurrence of urorectal septum malformation sequence spectrum anomalies in siblings: Time to explore the genetics

Aggarwal, Shagun, Phadke, Shubha R.

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 413 KB

english, 2013

6

Urorectal septum malformation sequence: Ultrasound correlation with fetal examination

S. J. Patil, Shubha R. Phadke

Journal:

Indian Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 1.38 MB

english, 2006

7

Angelman syndrome and prenatally diagnosed Prader–Willi syndrome in first cousins

Prajnya Ranganath, Meenal Agarwal, Shubha R. Phadke

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 260 KB

english, 2011

8

Linear catch-up growth

Anita Saxena, Shubha R. Phadke, S. S. Agarwal

Journal:

Indian Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 598 KB

english, 2000

9

Diagnosis and Management of Gaucher Disease in India – Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics

Puri, Ratna Dua, Kapoor, Seema, Kishnani, Priya S., Dalal, Ashwin, Gupta, Neerja, Muranjan, Mamta, Phadke, Shubha R., Sachdeva, Anupam, Verma, Ishwar C., Mistry, Pramod K.

Journal:

Indian Pediatrics

Year:

2018

Language:

english

File:

PDF, 529 KB

english, 2018

10

Pericentric inversion causing duplication and deletion of chromosome region 13q22 → qter in the offspring

Siddramappa J. Patil, Shubha R. Phadke

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 155 KB

english, 2007

11

Neuroimaging in mental retardation

Amita Pandey, Shubha R. Phadke, Neerja Gupta, R. V. Phadke

Journal:

Indian Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 1.40 MB

english, 2004

12

Performance of QF-PCR in targeted prenatal aneuploidy diagnosis: Indian scenario

Muthuswamy, Srinivasan, Bhalla, Poonam, Agarwal, Sarita, Phadke, Shubha R.

Journal:

Year:

2015

Language:

english

File:

PDF, 722 KB

english, 2015

13

Neural tube defects: A need for population-based prevention program

Phadke, Shubha, Agarwal, Meenal

Journal:

Indian Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 126 KB

english, 2012

14

Oral-Facial-Digital syndrome with acromelic short stature

Phadke, Shubha R., Pahi, Jagannath, Pandey, Amita, Agarwal, S. S.

Journal:

Clinical Dysmorphology

Year:

1999

File:

PDF, 2.16 MB

1999

15

Cover Image, Volume 173A, Number 3, March 2017

Salian, Smrithi, Cho, Tae-Joon, Phadke, Shubha R., Gowrishankar, Kalpana, Bhavani, Gandham SriLakshmi, Shukla, Anju, Jagadeesh, Sujatha, Kim, Ok-Hwa, Nishimura, Gen, Girisha, Katta M.

Journal:

American Journal of Medical Genetics Part A

Year:

2017

File:

PDF, 825 KB

2017

16

CVS and porencephaly

Anita K. Sharma, Shubha R. Phadke

Journal:

Prenatal Diagnosis

Year:

1993

Language:

english

File:

PDF, 87 KB

english, 1993

17

Anotia and facial palsy: Unusual features of cardiofacial syndrome

K. M. Girisha, Shubha R. Phadke

Journal:

Indian Journal of Pediatrics

Year:

2005

Language:

english

File:

PDF, 586 KB

english, 2005

18

Diagnosis of Down Syndrome and Detection of Origin of Nondisjunction by Short Tandem Repeat Analysis

Jain, Shalu, Agarwal, Sarita, Panigrahi, Inusha, Tamhankar, Parag, Phadke, Shubha

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 3.04 MB

english, 2010

19

Long-term efficacy of oral deferiprone in management of iron overload in beta thalassemia major

Goel, Himanshu, Girisha, K. M., Phadke, Shubha R.

Journal:

Hematology (American Society of Hematology)

Year:

2008

Language:

english

File:

PDF, 123 KB

english, 2008

20

Protein protein interaction network analysis of differentially expressed genes to understand involved biological processes in coronary artery disease and its different severity

Kashyap, Shiridhar, Kumar, Sudeep, Agarwal, Vikas, Misra, Durga P., Phadke, Shubha R., Kapoor, Aditya

Journal:

Year:

2018

Language:

english

File:

PDF, 5.97 MB

english, 2018

21

Expanding the phenotype in autosomal dominant mental retardation-24

Sharma, Pankaj, Gambhir, Poonam S., Phadke, Shubha R., Mandal, Kausik

Journal:

Clinical Dysmorphology

Year:

2019

File:

PDF, 165 KB

2019

22

Hypotonic infant with PallisterâKillian syndrome diagnosed by cytogenetic microarray, without pigmentary skin changes and malformations

Rawool, Anup, Srivastava, Priyanka, Phadke, Shubha R.

Journal:

Journal of Genetics

Year:

2020

File:

PDF, 470 KB

2020

23

Asphyxiating thoracic dystrophy with facial dysmorphism

V. H. Sankar, Shubha R. Phadke

Journal:

Indian Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 1.12 MB

english, 2006

24

Hemophilia Care in India: A Review and Experience from a Tertiary Care Centre in Uttar Pradesh

Journal:

Indian Journal of Hematology and Blood Transfusion

Year:

2011

Language:

english

File:

PDF, 165 KB

english, 2011

25

Profile of patients with Von Gierke disease from India

Tamhankar, Parag M., Boggula, Vijayraju, Girisha, K. M., Phadke, Shubha R.

Journal:

Indian Pediatrics

Year:

2012

Language:

english

File:

PDF, 500 KB

english, 2012

26

Application of a reliable and rapid polymerase chain reaction based method in the diagnosis of myotonic dystrophy type 1 (DM1) in India

Kumar, Ashok, Agarwal, Sarita, Phadke, Shubha R., Pradhan, Sunil

Journal:

Year:

2014

Language:

english

File:

PDF, 499 KB

english, 2014

27

Genetic variations of the FCER2 gene and asthma susceptibility in north Indian children: a case-control study

Sharma, Neeraj, Dixit, Pratibha, Awasthi, Shally, Phadke, Shubha R.

Journal:

Year:

2013

Language:

english

File:

PDF, 666 KB

english, 2013

28

Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta

Stephen, Joshi, Shukla, Anju, Dalal, Ashwin, Girisha, Katta Mohan, Shah, Hitesh, Gupta, Neerja, Kabra, Madhulika, Dabadghao, Preeti, Phadke, Shubha R.

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 539 KB

english, 2014

29

White matter changes in GM1 gangliosidosis

Tuteja, Moni, Bidchol, Abdul Mueed, Girisha, Katta Mohan, Phadke, Shubha R.

Journal:

Indian Pediatrics

Year:

2015

Language:

english

File:

PDF, 420 KB

english, 2015

30

Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly

Kar, Anjana, Phadke, Shubha R., Das Bhowmik, Aneek, Dalal, Ashwin

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 2.97 MB

english, 2017

31

Gene expression profiling of coronary artery disease and its relation with different severities

Kashyap, Shiridhar, Kumar, Sudeep, Agarwal, Vikas, Misra, Durga P., Phadke, Shubha R., Kapoor, Aditya

Journal:

Journal of Genetics

Year:

2018

Language:

english

File:

PDF, 1.87 MB

english, 2018

32

Identification ofDKC1gene mutation in an Indian patient

Parag M. Tamhankar, Meina Zhao, Hirokazu Kanegane, Shubha R. Phadke

Journal:

Indian Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 119 KB

english, 2010

33

Erratum to: Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India

Gopalakrishnan, Vignesh, Joshi, Kriti, Phadke, Shubha, Dabadghao, Preeti, Agarwal, Meenal, Das, Vinita, Jain, Suruchi, Gambhir, Sanjay, Gupta, Bhaskar, Pandey, Amita, Kapoor, Deepa, Kumar, Mala, Bhati

Journal:

Indian Pediatrics

Year:

2015

Language:

english

File:

PDF, 270 KB

english, 2015

34

Consanguinity as an Adjunct Diagnostic Tool

Srivastava, Priyanka, Saxena, Deepti, Joshi, Stephen, Phadke, Shubha R.

Journal:

Indian Journal of Pediatrics

Year:

2016

Language:

english

File:

PDF, 1.20 MB

english, 2016

35

Medical genetics and genomic medicine in India: current status and opportunities ahead

Aggarwal, Shagun, Phadke, Shubha R

Journal:

Molecular Genetics & Genomic Medicine

Year:

2015

File:

PDF, 925 KB

2015

36

Knowledge of Cord Blood Banking in General Population and Doctors: A Questionnaire Based Survey

Tuteja, Moni, Agarwal, Meenal, Phadke, Shubha R.

Journal:

Indian Journal of Pediatrics

Year:

2016

Language:

english

File:

PDF, 340 KB

english, 2016

37

Carrier frequency of SMN1 ârelated spinal muscular atrophy in north Indian population: The need for population based screening program

Nilay, Mayank, Moirangthem, Amita, Saxena, Deepti, Mandal, Kausik, Phadke, Shubha R.

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 611 KB

2020

38

Further delineation of a new (Van Den Ende-Gupta) syndrome of blepharophimosis, contractural arachnodactyly, and characteristic face

Phadke, Shubha R., Gulati, Reena, Agarwal, S.S.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 211 KB

english, 1998

39

Genetic counseling: The impact in Indian milieu

Shubha R. Phadke, Amita Pandey, Ratna Dua Puri, S. J. Patil

Journal:

Indian Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 418 KB

english, 2004

40

Hemiconvulsion-hemiplegia-epilepsy syndrome with 1q44 microdeletion: Causal or chance association

Gupta, Rekha, Agarwal, Meenal, Boqqula, Vijay R., Phadke, Rajendra V., Phadke, Shubha R.

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 214 KB

english, 2014

41

Floating Harbor Syndrome

Amita, Moirangthem, Srivastava, Priyanka, Agarwal, Divya, Phadke, Shubha R.

Journal:

Indian Journal of Pediatrics

Year:

2016

Language:

english

File:

PDF, 315 KB

english, 2016

42

Chondrodysplasia punctata tibia metacarpal type

Shukla, Anju, Phadke, Shubha R.

Journal:

Clinical Dysmorphology

Year:

2015

Language:

english

File:

PDF, 129 KB

english, 2015

43

Hotspots in PTPN11 gene among Indian children with Noonan syndrome

Narayanan, Dhanya Lakshmi, Pandey, Himani, Moirangthem, Amita, Mandal, Kausik, Gupta, Rekha, Puri, Ratna Dua, Patil, S. J., Phadke, Shubha R.

Journal:

Indian Pediatrics

Year:

2017

Language:

english

File:

PDF, 460 KB

english, 2017

44

Deletion 7q21.2-q22.1 in a case with split hand-split foot malformation, sensorineural hearing loss and intellectual disability: Phenotype subtypes and the correlation with genotypes

Rai, Archana, Srivastava, Priyanka, Phadke, Shubha R.

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 1.34 MB

english, 2018

45

Phenotype score to grade the severity of thalassemia intermedia

Shubha R. Phadke, Savita Agarwal

Journal:

Indian Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 526 KB

english, 2003

46

Recurrent Pregnancy Loss and Apolipoprotein E Gene Polymorphisms: A Case–Control Study from North India

Meenal Agarwal, Farah Parveen, Rehan Mujeeb Faridi, Shubha R. Phadke, Vinita Das, Suraksha Agrawal

Journal:

American Journal of Reproductive Immunology

Year:

2010

Language:

english

File:

PDF, 178 KB

english, 2010

47

Further delineation of acro-renal-mandibular syndrome

Phadke, Shubha R., Manisha,

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 92 KB

english, 2006

48

Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis

Sharma, Anjali, Poddar, Ujjal, Agnihotry, Shikha, Phadke, Shubha R., Yachha, Surender K., Aggarwal, Rakesh

Journal:

BMC Gastroenterology

Year:

2018

Language:

english

File:

PDF, 694 KB

english, 2018

49

Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls

Lallar, Meenakshi, Rai, Archana, Srivastava, Priyanka, Mandal, Kausik, Gupta, Neerja, Kabra, Madhulika, Phadke, Shubha R.

Journal:

Indian Pediatrics

Year:

2018

Language:

english

File:

PDF, 469 KB

english, 2018

50

Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy

Narayanan, Dhanya Lakshmi, Matta, Divya, Gupta, Neerja, Kabra, Madhulika, Ranganath, Prajnya, Aggarwal, Shagun, Phadke, Shubha R., Datar, Chaitanya, Gowrishankar, Kalpana, Kamate, Mahesh, Jain, Jamal

Journal:

Journal of Human Genetics

Year:

2019

File:

PDF, 589 KB

2019

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