Indian Journal of Human Genetics
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   2013| July-September  | Volume 19 | Issue 3  
    Online since October 30, 2013

 
 
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CASE REPORTS
Genetic analysis of a family with complete androgen insensitivity syndrome
Sunil Kumar Kota, Kotni Gayatri, Siva Krishna Kota, Sruti Jammula
July-September 2013, 19(3):355-357
DOI:10.4103/0971-6866.120820  PMID:24339553
  2,687 42 -
ORIGINAL ARTICLES
Analysis of hemoglobin electrophoresis results and physicians investigative practices in Saudi Arabia
Syed Riaz Mehdi, Badr Abdullah Al Dahmash
July-September 2013, 19(3):337-341
DOI:10.4103/0971-6866.120829  PMID:24339548
  2,259 35 -
REVIEW ARTICLES
An overview of gene therapy in head and neck cancer
Amit Bali, Deepika Bali, Ashutosh Sharma
July-September 2013, 19(3):282-290
DOI:10.4103/0971-6866.120811  PMID:24339539
  2,005 87 1
CASE REPORTS
Novel three missense mutations observed in Von Hippel-Lindau gene in a patient reported with renal cell carcinoma
Pasupuleti Santhosh Kumar, Katari Venkatesh, Lokanathan Srikanth, Potukuchi Venkata Gurunadha Krishna Sarma, Akkamgari Ramprasad Reddy, Srinivasan Subramanian, Bobbidi Venkata Phaneendra
July-September 2013, 19(3):373-376
DOI:10.4103/0971-6866.120809  PMID:24339559
  1,976 55 2
ORIGINAL ARTICLES
Inter and intra ethnic variation of vitamin K epoxide reductase complex and cytochrome P450 4F2 genetic polymorphisms and their prevalence in South Indian population
Dhakchinamoorthi Krishna Kumar, Deepak Gopal Shewade, Sajjanavar Manjunath, Prayaga Ushakiran, Gangadharan Reneega, Chandrasekaran Adithan
July-September 2013, 19(3):301-310
DOI:10.4103/0971-6866.120817  PMID:24339542
  1,714 44 1
CASE REPORTS
Type 2 diabetes mellitus: An unusual association with Down's syndrome
Sunil Kumar Kota, Prabhas Ranjan Tripathy, Siva Krishna Kota, Sruti Jammula
July-September 2013, 19(3):358-359
DOI:10.4103/0971-6866.120818  PMID:24339554
  1,620 37 -
ORIGINAL ARTICLES
Phenotypic spectrum in uniparental disomy: Low incidence or lack of study?
Arpan D Bhatt, Thomas Liehr, Sonal R Bakshi
July-September 2013, 19(3):311-314
DOI:10.4103/0971-6866.120819  PMID:24339543
  1,566 41 -
Genetic and molecular analysis of the CLDN14 gene in Moroccan family with non-syndromic hearing loss
Majida Charif, Redouane Boulouiz, Amina Bakhechane, Houda Benrahma, Halima Nahili, Abdelmajid Eloualid, Hassan Rouba, Mostafa Kandil, Omar Abidi, Guy Lenaers, Abdelhamid Barakat
July-September 2013, 19(3):331-336
DOI:10.4103/0971-6866.120828  PMID:24339547
  1,439 26 -
CASE REPORTS
Hypoparathyroidism-retardation-dysmorphism syndrome
Kalenahalli Jagadish Kumar, Halasahalli Chowdegowda Krishna Kumar, Vadambal Gopalakrishna Manjunath, Sangaraju Mamatha
July-September 2013, 19(3):363-365
DOI:10.4103/0971-6866.120814  PMID:24339556
  1,406 31 -
ORIGINAL ARTICLES
Linkage study of DFNB3 responsible for hearing loss in human
Akhtar Ali, Masroor E Babar, Saeeda Kalsoom, Jamil Ahmad, Kamran Abbas
July-September 2013, 19(3):325-330
DOI:10.4103/0971-6866.120827  PMID:24339546
  1,400 21 -
CASE REPORTS
Mosaic double aneuploidy: Down syndrome and XYY
Mayur Parihar, Beena Koshy, Vivi Miriam Srivastava
July-September 2013, 19(3):346-348
DOI:10.4103/0971-6866.120825  PMID:24339550
  1,380 40 -
Poland syndrome a rare congenital anomaly
Aliyu Ibrahim, Abdallah Ramatu, Akhiwu Helen
July-September 2013, 19(3):349-351
DOI:10.4103/0971-6866.120824  PMID:24339551
  1,327 25 -
A novel ABCB11 mutation in an Iranian girl with progressive familial intrahepatic cholestasis
Sassan Saber, Reza Vazifehmand, Iman Bagherizadeh, Mahbubeh Kasiri
July-September 2013, 19(3):366-368
DOI:10.4103/0971-6866.120813  PMID:24339557
  1,289 21 -
Genetic mutations in Gorlin-Goltz syndrome
Muthumula Daneswari, Mutjumula Swamy Ranga Reddy
July-September 2013, 19(3):369-372
DOI:10.4103/0971-6866.120810  PMID:24339558
  1,257 38 -
ORIGINAL ARTICLES
Polymorphism at P21 codon 31 and dinucleotide polymorphism of P73 gene and susceptibility to bladder cancer in individuals from North India
Praveen Kumar Jaiswal, Vibha Singh, Rama Devi Mittal
July-September 2013, 19(3):293-300
DOI:10.4103/0971-6866.120815  PMID:24339541
  1,085 55 -
Population based family history analysis of Brahmins in a small town in India for the prevalence of type-2 diabetes mellitus
Arun V Panat, Dilip A Kulkarni, Ravindra B Ghooi
July-September 2013, 19(3):342-345
DOI:10.4103/0971-6866.120826  PMID:24339549
  1,081 59 -
CASE REPORTS
A case of primary amenorrhea with 46+XY genotype from Kashmir Valley
Shahid Mudassir Baba, Aga Syed Sameer, Mushtaq A Siddiqi
July-September 2013, 19(3):360-362
DOI:10.4103/0971-6866.120816  PMID:24339555
  1,026 28 -
REVIEW ARTICLES
Hemoglobin E disorder: Newborn screening program
Viroj Wiwanitkit
July-September 2013, 19(3):279-281
DOI:10.4103/0971-6866.120808  PMID:24339538
  977 56 -
CASE REPORTS
Hemoglobin Fontainebleau [a21(B2)Ala>Pro]: The second report from India
Ranjeet Singh Mashon, Sona Nair, Pratibha Sawant, Roshan B Colah, Kanjaksha Ghosh, Sheila Das
July-September 2013, 19(3):352-354
DOI:10.4103/0971-6866.120822  PMID:24339552
  995 25 -
EDITORIAL
Warfarin pharmacogenetics: How close are we to clinical practice?
Tejasvita Gaikwad, Shrimati Shetty, Kanjaksha Ghosh
July-September 2013, 19(3):277-278
DOI:10.4103/0971-6866.120806  PMID:24339537
  956 61 -
ORIGINAL ARTICLES
Index of opportunity for natural selection among the Gowdas of Kodagahalli village, Karnataka, India
Bhaboklang Sohkhlet
July-September 2013, 19(3):315-319
DOI:10.4103/0971-6866.120821  PMID:24339544
  826 28 -
LETTER TO THE EDITOR
Possible impact of factor V Leiden genotype on warfarin induced bleeding
Tejasvita Gaikwad, Kanjaksha Ghosh, Shrimati Shetty
July-September 2013, 19(3):377-378
DOI:10.4103/0971-6866.120807  PMID:24339560
  807 29 -
ORIGINAL ARTICLES
Usage of U7 small nuclear ribonucleic acid in gene therapy of hemoglobin D Punjab disorder: Rationale?
Viroj Wiwanitkit
July-September 2013, 19(3):291-292
DOI:10.4103/0971-6866.120812  PMID:24339540
  776 32 -
No CAG repeat expansion of polymerase gamma is associated with male infertility in Tamil Nadu, South India
J Poongothai
July-September 2013, 19(3):320-324
DOI:10.4103/0971-6866.120823  PMID:24339545
  730 34 -
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