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Akademický článek
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Autor:
Sonam Rani, Vasanth Thamodaran, Krittika Nandy, Fouzia Nambiathayil Aboobacker, Madhavi Maddali, Praveena Rajesh, S Vijayanand, Ernest David, Shaji Ramachandran Velayudhan
Diamond Blackfan anemia (DBA) is a congenital hypoplastic anemia characterized by ineffective erythropoiesis. DBA is majorly caused by mutations in the ribosomal protein (RP) genes1. A suitable disease model that yields a continuous supply of erythro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c4e6057841aa992d534cc0fc46718cd5
https://doi.org/10.21203/rs.3.rs-2876104/v1
https://doi.org/10.21203/rs.3.rs-2876104/v1
Autor:
Pai, Aswin Anand, Mohanan, Ezhilpavai, Panetta, John C., Kulkarni, Uday P., Illangeswaran, Raveen Stephen Stallon, Balakrishnan, Balaji, Jayaraman, Agila, Edison, Eunice S., Lakshmi, Kavitha M., Devasia, Anup J., Fouzia, Nambiathayil Aboobacker, Korula, Anu, Abraham, Aby, George, Biju, Srivastava, Alok, Mathews, Vikram, Standing, Joseph F., Balasubramanian, Poonkuzhali
Publikováno v:
Clinical Pharmacology & Therapeutics; Jan2024, Vol. 115 Issue 1, p116-125, 10p
Autor:
Fouzia Nambiathayil Aboobacker, Renu George, Anne Jennifer Priscilla, Bernice ThamaraiSelvi, Ankan Gupta
Publikováno v:
Pediatric Dermatology. 37:1139-1141
Constitutional mismatch repair deficiency (CMMRD) syndrome results from bi-allelic mutations in DNA mismatch repair genes-MLH1, MSH2, MSH6, or PMS2. We present two siblings with CMMRD having p.Arg802Ter (c.2404C >T) homozygous mutations in PMS2 exon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e020668046ce713f0d773b4609e2154b
https://doi.org/10.1111/pde.14332
https://doi.org/10.1111/pde.14332
Publikováno v:
Blood research
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b9af39e4049119134a4a4cd22c92474
http://europepmc.org/articles/PMC5898999
http://europepmc.org/articles/PMC5898999
Autor:
Ramamani Mariappan, Sniya Valsa Sudhakar, Sangeetha Yoganathan, Fouzia Nambiathayil Aboobacker, Vivek Mathew, Sunithi Mani, Maya Thomas
Publikováno v:
Neuropediatrics. 50(6)
Spontaneous intracranial hypotension (SIH) is an under-diagnosed cause of headache in children and adolescents. SIH results from cerebrospinal fluid (CSF) leak due to breach in the dura mater and the etiology for dural breach is often diverse. We rep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50fbc7c30c172d6ddd28bc4dae838f14
https://pubmed.ncbi.nlm.nih.gov/31529425
https://pubmed.ncbi.nlm.nih.gov/31529425
Autor:
Gupta P; Department of Endocrinology, Christian Medical College and Hospital, Vellore, Tamil Nadu, India., Cherian KE; Department of Endocrinology, Christian Medical College and Hospital, Vellore, Tamil Nadu, India., Kapoor N; Department of Endocrinology, Christian Medical College and Hospital, Vellore, Tamil Nadu, India., Fouzia NA; Department of Hematology, Christian Medical College and Hospital, Vellore, Tamil Nadu, India., Paul TV; Department of Endocrinology, Christian Medical College and Hospital, Vellore, Tamil Nadu, India.
Publikováno v:
Indian journal of endocrinology and metabolism [Indian J Endocrinol Metab] 2019 Nov-Dec; Vol. 23 (6), pp. 648.