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Works (9)

Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism.

2011-07-07 | Standards or policy
DOI:

10.1002/ajmg.a.34094

PMID:

21739585

Source: Self-asserted source
Raveen Basran

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.

2011-04-01 | Standards or policy
DOI:

10.1111/j.1399-0004.2010.01462.x

PMID:

20528889

Source: Self-asserted source
Raveen Basran

Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome.

2010-10-01 | Standards or policy
DOI:

10.1002/ajmg.a.33611

PMID:

20830798

Source: Self-asserted source
Raveen Basran

A T-to-G transversion at nucleotide -567 upstream of HBG2 in a GATA-1 binding motif is associated with elevated hemoglobin F.

2008-04-28 | Standards or policy
DOI:

10.1128/MCB.00071-08

PMID:

18443038

Source: Self-asserted source
Raveen Basran

Beta-thalassemia intermedia due to compound heterozygosity for two beta-globin gene promoter mutations, including a novel TATA box deletion.

2008-02-01 | Standards or policy
DOI:

10.1002/pbc.20916

PMID:

16732578

Source: Self-asserted source
Raveen Basran

THE Hb S/beta+ -thalassemia phenotype demonstrates that the IVS-I (-2) (A>C) mutation is a mild beta-thalassemia allele.

2008-01-01 | Standards or policy
DOI:

10.1080/03630260802004459

PMID:

18473247

Source: Self-asserted source
Raveen Basran

Two new alpha-thalassemia frameshift mutations.

2007-01-01 | Standards or policy
DOI:

10.1080/03630260701285118

PMID:

17486494

Source: Self-asserted source
Raveen Basran

Sickle cell disease due to compound heterozygosity for Hb S and a novel 7.7-kb beta-globin gene deletion.

2006-10-13 | Standards or policy
DOI:

10.1111/j.1600-0609.2006.00771.x

PMID:

17038017

Source: Self-asserted source
Raveen Basran

Prenatal diagnosis of hemoglobinopathies in Ontario, Canada.

2005-01-01 | Standards or policy
DOI:

10.1196/annals.1345.052

PMID:

16339708

Source: Self-asserted source
Raveen Basran