Search Articles

View query in Help articles search
e.g. John Smith or 0000-0001-6479-5330

Search Results (1 to 10 of 30 Results)

Download search results: CSV END BibTex RIS

Identification of a Novel c.3080delC JAG1 Gene Mutation Associated With Alagille Syndrome: Whole Exome Sequencing

Identification of a Novel c.3080delC JAG1 Gene Mutation Associated With Alagille Syndrome: Whole Exome Sequencing

The study design and protocol were conducted in accordance with the guidelines of the American College of Medical Genetics and Genomics and was approved by the Ethical Review Committee of Dr Lal Pathlabs. Written informed consent has been taken from parents of the proband included in the study, and the parents have provided consent to publish the data. The DNA was extracted from 2 ml of the peripheral blood using Qiagen DNA mini kit, as per the manufacturer’s instructions.

Deepak Panwar, Vandana Lal, Atul Thatai

JMIR Bioinform Biotech 2022;3(1):e33946

Download Citation: END BibTex RIS

Download PDF Download XML
Article has an altmetric score of 2

Sickle Cell Transplantation Evaluation of Long-term and Late Effects Registry (STELLAR) to Compare Long-term Outcomes After Hematopoietic Cell Transplantation to Those in Siblings Without Sickle Cell Disease and in Nontransplanted Individuals With Sickle Cell Disease: Design and Feasibility Study

Sickle Cell Transplantation Evaluation of Long-term and Late Effects Registry (STELLAR) to Compare Long-term Outcomes After Hematopoietic Cell Transplantation to Those in Siblings Without Sickle Cell Disease and in Nontransplanted Individuals With Sickle Cell Disease: Design and Feasibility Study

Lakshmanan Krishnamurti, Staci D Arnold, Ann Haight, Allistair Abraham, Gregory MT Guilcher, Tami John, Nitya Bakshi, Shalini Shenoy, Karen Syrjala, Paul L Martin, Sonali Chaudhury, Gretchen Eames, Olusola Festus Olowoselu, Matthew Hsieh, Josu De La Fuente, Kimberly A Kasow, Elizabeth Stenger, Anne Mertens, Fuad El-Rassi, Peter Lane, Bronwen E Shaw, Lillian Meacham, David Archer

JMIR Res Protoc 2022;11(7):e36780

Download Citation: END BibTex RIS

Download PDF Download XML
Article has an altmetric score of 2