Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Deepa Saravana"'
Autor:
Benjamin N. Fogel, Deepa Saravana, Mary Lewis, Nicole M. Hackman, Barbara E Ostrov, Jennifer R. Miller, Tammy E. Corr, Margaret I. Mikula, Carrie Daymont, Erich K. Batra
Publikováno v:
Pediatrics. 148
BACKGROUND AND OBJECTIVES Sudden unexpected infant death often results from unsafe sleep environments and is the leading cause of postneonatal mortality in the United States. Standardization of infant sleep environment education has been revealed to
Autor:
Tobias Boettcher, Christian Beetz, Daniel Schulze, Deepa Saravanakumar, Emir Zonic, Sabine Schroeder, Anett Kaune, Omid Paknia, Jorge Pinto Basto, Peter Bauer
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101116- (2024)
Externí odkaz:
https://doaj.org/article/37f0453c6a274296bf6eb4a8b6bbfcef
Autor:
Corina-Marcela Rus, Thomas Weissensteiner, Catarina Pereira, Iuliana Susnea, Bright D. Danquah, Galina Morales Torres, Maria Eugenia Rocha, Claudia Cozma, Deepa Saravanakumar, Sumanth Mannepalli, Krishna K. Kandaswamy, Sebastiano Di Bucchianico, Ralf Zimmermann, Arndt Rolfs, Peter Bauer, Christian Beetz
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background Ceroid lipofuscinoses neuronal 6 (CLN6) disease belongs to the neuronal ceroid lipofuscinoses (NCLs), complex and genetically heterogeneous disorders with wide geographical and phenotypic variation. The first clinical signs usuall
Externí odkaz:
https://doaj.org/article/ded9990fd9204f9b870ff9a0bb3a6b4f
Autor:
Emir Zonic, Mariana Ferreira, Luba M. Pardo, Javier Martini, Maria Eugenia Rocha, Ruxandra Aanicai, Natalia Ordonez-Herrera, Deepa Saravanakumar, Ligia S. Almeida, Inês C. Fernandes, Nishtha Gulati, Sumanth Mannepalli, Amela Hercegovac, Ruslan Al-Ali, Catarina Pereira, Omid Paknia, Uros Hladnik, Peter Bauer, Jorge Pinto Basto, Aida M. Bertoli-Avella
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100833- (2023)
Purpose: With this study, we aimed to explore the gene-disease relationship (GDR) evidence for 109 gene-disease pairs and the significance of a large Biodatabank for this classification. Methods: The Clinical Genome Resource (ClinGen) Clinical Validi
Externí odkaz:
https://doaj.org/article/5646c2cad13543d692abf4b0e83ef3f2