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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN:
0971-6866
EISSN:
0971-6866
this issue
year
vol
number
2011
17
02
Available Articles
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Editorial
Chromosomal aberrations in hematological malignancies: A guide to the identification of novel oncogenes
Vundinti, Babu Rao.; Ghosh, Kanjaksha
Are mannose-binding lectin gene 2 (MBL2) polymorphisms and MBL deficiency associated with infections?
Pradhan, Vandana; Gorakshakar, Ajit
Research Article
Characterization of cryptic rearrangements, deletion, complex variants of
PML, RARA
in acute promyelocytic leukemia
Amare, Pratibha Kadam.; Baisane, Chanda; Nair, Reena; Menon, Hari; Banavali, Shripad; Kabre, Sharayu; Gujral, Sumit; Subramaniam, P
The first report described as an important study: The association of mannose-binding lectin gene 2 polymorphisms in children with down syndrome
Demirhan, Osman; Tastemir, Deniz; Günesacar, Ramazan; Güzel, Ali Irfan.; Alptekin, Davut
Molecular investigation of mental retardation locus gene PRSS12 by linkage analysis
Ali, Zafar; Babar, Masroor Ellahi.; Ahmad, Jamil; Yousaf, Muhammad Zubair.; Asif, Muhammad; Shah, Sajjad Ali.
Novel mutations in arrhythmogenic right ventricular cardiomyopathy from Indian population
Pamuru, Pranathi Rao.; Maithili, D V.N.; Mohiuddin, Khalid; Calambur, Narasimhan; Nallari, Pratibha
Cytoprotective effect of honey against chromosomal breakage in fanconi anemia patients
in vitro
Mogib El-Dahtory, Faeza Abdel.; Yahia, Sohier
Chromosomal abnormalities as a cause of recurrent abortions in Egypt
Mogib El-Dahtory, Faeza Abdel.
Review Article
Craniosynostosis genetics: The mystery unfolds
Panigrahi, Inusha
Case Report
McKusick-Kaufman or Bardet-Biedl syndrome? A new borderline case in an Italian nonconsanguineous healthy family
Chetta, Massimiliano; Bukvic, Nenad; Bafunno, Valeria; Sarno, Michelina; Magaldi, Rosario; Grilli, Gianpaolo; Bertozzi, Vincenzo; Perfetto, Francesco; Margaglione, Maurizio
A recurrent mutation in Moroccan patients with
Dyggve-Melchior-Clausen syndrome
: Report of a new case and review
Elalaoui, Siham Chafai.; Mariam, Tajir; Ilham, Ratbi; Yassamine, Doubaj; Abdelaziz, Sefiani
Deletion of ABL/BCR on der(9) associated with severe basophilia
Vaidya, Shantashri; Madkaikar, Manisha; Ghosh, Kanjaksha; Vundinti, Babu Rao.
Congenital erythropoietic porphyria with two mutations of the uroporphyrinogen III synthase gene (Cys73Arg, Thr228Met)
Gucev, Zoran; Slavevska, Nevenka; Tasic, Velibor; Laban, Nevenka; Pop-Jordanova, Nada; Danilovski, Dragan; Woolf, Jacqueline; Cole, Duncan
Early recurrent left atrial myxoma in a teenager with
de novo
mutation of Carney complex
Stajevic, Mila S.; Vukomanovic, Vladislav A.; Kuburovic, Vladimir D.; Djuricic, Slavisa M.
Prenatal diagnosis in a mentally retarded woman with mosaic ring chromosome 18
Bagherizadeh, Eiman; Behjati, Farkhondeh; Saberi, Seyed Hoseinali.; Shafeghati, Yousef
Report
Association of cytotoxic T lymphocyte-associated antigen 4 gene single nucleotide polymorphism with type 1 diabetes mellitus in Madurai population of Southern India
Philip, Beatrice; Isabel, W
Book Review
G-C heterozygosis in mutS homolog2 as a risk factor to hereditary nonpolyposis colon cancer in the absence of a family medical history
Arvayo-Zatarain, Jorge Alfonso.; Grijalva-Chon, José Manuel.; Castro-Longoria, Reina; Varela-Romero, Alejandro
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