Shubha R Phadk: 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

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

4

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

5

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

6

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

7

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

8

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

9

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

10

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

11

Complex camptopolydactyly: An unusual hand malformation

Phadke, Shubha R., Gautam, Prachi

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 129 KB

english, 1999

12

Pachygyria/hypogenitalism: A monogenic syndrome

Pradhan, M., Phadke, Shubha R., Jain, S., Agarwal, S. S.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 229 KB

english, 1999

13

Absence of HTLV-1 infection in multi-transfused thalassemia patients in North India

Rajendra Chaudhary, Shubha R. Phadke

Journal:

American Journal of Hematology

Year:

2001

Language:

english

File:

PDF, 441 KB

english, 2001

14

Overlap between Majewski and Hydrolethalus syndromes: A report of two cases

Dr. Anita K. Sharma, Shubha Phadke, Kartika Chandra, Mamta Upreti, E. M. Khan, M. Naveed, S. S. Agarwal

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 450 KB

english, 1992

15

Short rib (polydactyly) syndrome type IV: Beemer–Langer syndrome

Dr. Anita K. Sharma, Shubha R. Phadke, S. S. Agarwal

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 104 KB

english, 1993

16

Preaxial brachydactyly with abduction of thumbs and hallux varus: A distinct entity

Dr. Anita K. Sharma, Ashutosh Haldar, Shubha R. Phadke, S. S. Agarwal

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 380 KB

english, 1994

17

Midline malformation syndromes

Dr. Anita K. Sharma, Shubha R. Phadke

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 65 KB

english, 1994

18

Another case of spondylocostal dysplasia and severe anomalies: A diagnostic and counseling dilemma

Dr. Anita K. Sharma, Shubha R. Phadke

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 115 KB

english, 1994

19

GAPO syndrome in a child without dermal hyaline deposit

Dr. Shubha R. Phadke, Ashutosh Haldhar, Anita K. Sharma, Rakesh Pande, Vijayalakshmi Bhatia, S. S. Agarwal

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 256 KB

english, 1994

20

OEIS complex with craniofacial anomalies—defect of blastogenesis?

Ashutosh Haldar, Anita K. Sharma, Shubha R. Phadke, Dr. Anita Jain, S. S. Agarwal

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 301 KB

english, 1994

21

Recurrence of complex camptopolydactyly in a sibling suggestive of autosomal recessive mode of inheritance

Shubha R. Phadke, Savita Agarwal, Ratna Dua Puri

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 93 KB

english, 2003

22

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

23

Spondylothoracic dysplasia: Prenatal diagnosis and the problems of nosologic overlap

Shubha R. Phadke, Siddramappa J. Patil, Niraj Kumari, Narendra Krishnani

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 239 KB

english, 2007

24

A report of a patient with interstitial deletion of 15q22: Further delineation of a new micro deletion syndrome

Shubha R. Phadke, Sheetal Sharda

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 84 KB

english, 2008

25

Report of two brothers with short stature, microcephaly, mental retardation, and retinoschisis—A new mental retardation syndrome?

Shubha R. Phadke, Sheetal Sharda, Jill Urquhart, Emma Jenkinson, Shobhit Chawala, Dorothy Trump

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 167 KB

english, 2011

26

Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation

Katta M. Girisha, Leslie E. Lewis, Shubha R. Phadke, Kerstin Kutsche

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 153 KB

english, 2010

27

Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations

Alessandra Pangrazio, Michael Pusch, Elena Caldana, Annalisa Frattini, Edoardo Lanino, Parag M Tamhankar, Shubha Phadke, Antonio Gonzalez Meneses Lopez, Paul Orchard, Ercan Mihci, Mario Abinun, Michae

Journal:

Year:

2010

Language:

english

File:

PDF, 184 KB

english, 2010

28

Twin pregnancy with Roberts syndrome in one fetus and trisomy 18 in the other

Ashwin B. Dalal, Shubha R. Phadke

Journal:

Journal of Clinical Ultrasound

Year:

2006

Language:

english

File:

PDF, 270 KB

english, 2006

29

Severe form of congenital cerebral and cerebellar atrophy: A neurodegenerative disorder of fetal onset

Shubha Phadke, Ratna Puri, Rajendra Phadke

Journal:

Journal of Clinical Ultrasound

Year:

2007

Language:

english

File:

PDF, 171 KB

english, 2007

30

Comparison of prenatal ultrasound findings and autopsy findings in fetuses terminated after prenatal diagnosis of malformations: An experience of a clinical genetics center

Shubha R. Phadke, Ashutosh Gupta

Journal:

Journal of Clinical Ultrasound

Year:

2010

Language:

english

File:

PDF, 94 KB

english, 2010

31

Intracardiac echogenic focus and fetal outcome

Geetika Gupta, Shagun Aggarwal, Shubha R. Phadke

Journal:

Journal of Clinical Ultrasound

Year:

2010

Language:

english

File:

PDF, 73 KB

english, 2010

32

Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences

Sajid Malik, KM Girisha, Muhammad Wajid, Akhilesh K Roy, Shubha R Phadke, Sayedul Haque, Wasim Ahmad, Manuela C Koch, Karl-Heinz Grzeschik

Journal:

BMC Medical Genetics

Year:

2007

Language:

english

File:

PDF, 1.71 MB

english, 2007

33

Prenatal diagnosis of spinal muscular atrophy: Indian scenario

Akanchha Kesari, Hanna Rennert, Debra G. B. Leonard, Shubha R. Phadke, Balraj Mittal

Journal:

Prenatal Diagnosis

Year:

2005

Language:

english

File:

PDF, 61 KB

english, 2005

34

CVS and porencephaly

Anita K. Sharma, Shubha R. Phadke

Journal:

Prenatal Diagnosis

Year:

1993

Language:

english

File:

PDF, 87 KB

english, 1993

35

Late termination of pregnancy for fetal abnormalities: The perspective of Indian lay persons and medical practitioners

Shubha R. Phadke, Meenal Agarwal, Shagun Aggarwal

Journal:

Prenatal Diagnosis

Year:

2011

Language:

english

File:

PDF, 82 KB

english, 2011

36

Prenatal diagnosis of iniencephaly and alobar holoprosencephaly with trisomy 13 mosaicism: a case report

Shubha R. Phadke, Seema Thakur

Journal:

Prenatal Diagnosis

Year:

2002

Language:

english

File:

PDF, 56 KB

english, 2002

37

Prenatally diagnosed trisomy 6 mosaicism

Neerja Gupta, Mandakini Pradhan, Manisha Renu Singh, Shubha R. Phadke

Journal:

Prenatal Diagnosis

Year:

2004

Language:

english

File:

PDF, 104 KB

english, 2004

38

Sociocultural and ethical dilemmas of genetic counseling—A suggested working approach

Anita K. Sharma, Shubha R. Phadke, S. S. Agarwal

Journal:

Journal of Genetic Counseling

Year:

1994

Language:

english

File:

PDF, 189 KB

english, 1994

39

Genetic counseling

Shubha R. Phadke

Journal:

Indian Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 647 KB

english, 2004

40

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

41

Diagnosing acrocallosal syndrome

Ashutosh Gupta, Seema Thakur, Shubha R. Phadke

Journal:

Indian Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 988 KB

english, 2003

42

Spectrum of holoprosencephaly

Seema Thakur, Renu Singh, M. Pradhan, Shubha R. Phadke

Journal:

Indian Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 1.77 MB

english, 2004

43

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

44

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

45

Hemihyperplasia syndromes

Ashwin B. Dalal, Shubha R. Phadke, Mandakini Pradhan, Sheetal Sharda

Journal:

Indian Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 1.67 MB

english, 2006

46

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

47

Unbalanced X; autosome translocation

Neerja Gupta, Himanshu Goel, Shubha R. Phadke

Journal:

Indian Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 449 KB

english, 2006

48

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

49

Use of Multiplex Ligation-Dependent Probe Amplification (MLPA) in screening of subtelomeric regions in children with idiopathic mental retardation

Kausik Mandal, Vijay R. Boggula, Minal Borkar, Suraksha Agarwal, Shubha R. Phadke

Journal:

Indian Journal of Pediatrics

Year:

2009

Language:

english

File:

PDF, 196 KB

english, 2009

50

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

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