Indian Journal of Human Genetics
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  Citation statistics : Table of Contents
   2014| April-June  | Volume 20 | Issue 2  
    Online since October 14, 2014

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Fetal valproate syndrome
Parmarth G Chandane, Ira Shah
April-June 2014, 20(2):187-188
DOI:10.4103/0971-6866.142898  PMID:25400349
  1 1,739 87
Wildervanck syndrome with hypoplastic frontal sinus: A rare case presentation
Suwansh Sukhadeorao Meshram, Sheetal Nikose, Shraddha Jain, Amar Taksande
April-June 2014, 20(2):189-191
DOI:10.4103/0971-6866.142899  PMID:25400350
  - 1,095 57
Constitutional mismatch repair deficiency syndrome: Do we know it?
C Ramachandra, Vasu Reddy Challa, Rachan Shetty
April-June 2014, 20(2):192-194
DOI:10.4103/0971-6866.142902  PMID:25400351
  - 1,141 47
Omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (OEIS Complex) with overlapping features of body stalk anomaly (limb body wall complex)
Suresh R. S. Mandrekar, Sangeeta Amoncar, Siddhartha Banaulikar, Vishal Sawant, R. G. W. Pinto
April-June 2014, 20(2):195-198
DOI:10.4103/0971-6866.142906  PMID:25400352
  - 2,639 52
First report of c. 1499G>C mutation in a 6-month-child with cystic fibrosis
Abbas Sahami, Nourkhoda Sadeghifard, Alireza Monsef, Hadi Peyman
April-June 2014, 20(2):199-202
DOI:10.4103/0971-6866.142911  PMID:25400353
  - 1,963 52
Phenotypical characterization of 13q deletion syndrome: Report of two cases
Eiman Bagherizadeh, Yousef Shafaghati, Fatemeh Hadipour, Farkhondeh Behjati
April-June 2014, 20(2):203-205
DOI:10.4103/0971-6866.142912  PMID:25400354
  - 1,732 58
Congenital anonychia and brachydactyly of the left foot - Cooks syndrome variant: Case report and review of literature
Daipayan Chatterjee
April-June 2014, 20(2):206-208
DOI:10.4103/0971-6866.142914  PMID:25400355
  - 1,232 45
Ectopia cilia with pedigree analysis: Second case report in the world
Tarang Goyal, Anupam Varshney, SK Bakshi
April-June 2014, 20(2):185-186
DOI:10.4103/0971-6866.142897  PMID:25400348
  - 1,444 78
Methylenetetrahydrofolatereductase C677T polymorphism and folate metabolism in human health
Babu Rao Vundinti
April-June 2014, 20(2):99-100
DOI:10.4103/0971-6866.142840  PMID:25400337
  - 3,432 307
Association of maternal folate with methylene tetrahydrofolate reductase polymorphism relationship in infants <3 months with Down syndrome
Pankaj Kumar Mohanty, Seema Kapoor
April-June 2014, 20(2):209-210
DOI:10.4103/0971-6866.142915  PMID:25400356
  - 809 65
Methylenetetrahydrofolate reductase polymorphism is not risk factor for Down syndrome in North India
Vandana Rai, Upendra Yadav, Pradeep Kumar, Sushil Kumar Yadav
April-June 2014, 20(2):142-147
DOI:10.4103/0971-6866.142858  PMID:25400341
  - 1,338 146
Genetic diversity of 15 autosomal short tandem repeats loci using the AmpFLSTR ® Identifiler™ kit in a Bhil Tribe Population from Gujarat state, India
Ramesh R Chaudhari, MS Dahiya
April-June 2014, 20(2):148-152
DOI:10.4103/0971-6866.142879  PMID:25400342
  - 1,384 97
Cost-effectiveness analysis for triple markers serum screening for Down's syndrome in Thai setting
Viroj Wiwanitkit
April-June 2014, 20(2):153-154
DOI:10.4103/0971-6866.142880  PMID:25400343
  - 742 79
Methylenetetrahydrofolate reductase C677T variant in Indian children with craniosynostosis: Its role in the pathogenesis, risk of craniosynostosis
Rajeev Kumar Pandey, Abid Ali, Amit Singh, Sukanya Gayan, Minu Bajpai
April-June 2014, 20(2):155-159
DOI:10.4103/0971-6866.142882  PMID:25400344
  - 1,121 95
FLT3 and NPM-1 mutations in a cohort of acute promyelocytic leukemia patients from India
Suchitra Swaminathan, Swati Garg, Manisha Madkaikar, Maya Gupta, Farah Jijina, Kanjaksha Ghosh
April-June 2014, 20(2):160-165
DOI:10.4103/0971-6866.142884  PMID:25400345
  - 1,130 92
Insertion-deletions burden in copy number polymorphisms of the Tibetan population
Avinash M Veerappa, Sangeetha Vishweswaraiah, Kusuma Lingaiah, N Megha Murthy, Raviraj V Suresh, Keshava Belur, Nallur B Ramachandra, Tejaswini , Niveditha B Patel, PK Supriya Gowda
April-June 2014, 20(2):166-174
DOI:10.4103/0971-6866.142888  PMID:25400346
  - 1,152 92
Prevalence of genetic variants associated with cardiovascular disease risk and drug response in the Southern Indian population of Kerala
Lakshmi Mahadevan, Ancy Yesudas, PK Sajesh, S Revu, Prasanna Kumar, Devi Santhosh, Sam Santhosh, JM Sashikumar, VK Gopalakrishnan, Joji Boben, Changanamkandath Rajesh
April-June 2014, 20(2):175-184
DOI:10.4103/0971-6866.142896  PMID:25400347
  - 2,808 128
Guidelines for screening, diagnosis and management of hemoglobinopathies
Kanjaksha Ghosh, Roshan Colah, Mamta Manglani, Ved Prakash Choudhry, Ishwar Verma, Nishi Madan, Renu Saxena, Dipty Jain, Neelam Marwaha, Reena Das, Dipika Mohanty, Rajendra Choudhary, Sarita Agarwal, Malay Ghosh, Cecil Ross
April-June 2014, 20(2):101-119
DOI:10.4103/0971-6866.142841  PMID:25400338
  - 6,579 474
Genetics in psychiatry
Shreekantiah Umesh, Shamshul Haque Nizamie
April-June 2014, 20(2):120-128
DOI:10.4103/0971-6866.142845  PMID:25400339
  - 3,291 219
Mammalian non-classical major histocompatibility complex I and its receptors: Important contexts of gene, evolution, and immunity
BM Pratheek, Tapas K Nayak, Subhransu S Sahoo, Prafulla K Mohanty, Soma Chattopadhyay, Ntiya G Chakraborty, Subhasis Chattopadhyay
April-June 2014, 20(2):129-141
DOI:10.4103/0971-6866.142855  PMID:25400340
  - 1,829 82
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