Výsledky vyhledávání - "Siddardha Bathula"

Akademický článek

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Cytogenomic Characterization of a Novel de novo Balanced Reciprocal Translocation t(1;12) by Genome Sequencing Leading to Fusion Gene Formation of EYA3/EFCAB4b

Autor: Usha R. Dutta, Amrita Bhattacherjee, Ashish Bahal, Laxmi P. Posanapally, Kaisar A. Lone, Siddardha Bathula, Ashwin Dalal

Publikováno v: Molecular Syndromology. 13:370-380

Introduction: The accurate detection of breakpoint regions of disease-associated chromosomal rearrangements helps understand the molecular mechanisms and identify the risks involved with disrupted genes. Methods: In this study, a girl with growth ret

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b374fd89563d59948a0c57f7bfda7aaf
https://doi.org/10.1159/000522011

Zobrazit plný text záznamu

Recurrent Skin Ulcers with Facial Dysmorphism and Sinopulmonary Infections: Thinking Beyond Hyper-IgE Syndrome

Autor: Aakash Chandran Chidambaram, Kiruthiga Sugumar, Selvamanojkumar Sundaravel, Jaikumar Govindaswamy Ramamoorthy, Siddardha Bathula, Usha R. Dutta

Publikováno v: Journal of Pediatric Genetics.

Prolidase deficiency (PD) is a rare inborn error of metabolism causing ulcers and other skin disorders, splenomegaly, developmental delay, and recurrent infections. Most of the literature is constituted of isolated case reports. It occurs due to the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c4433d64eed63d544c05f6b208c5eeda
https://doi.org/10.1055/s-0041-1741007

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání