Výsledky vyhledávání - "Madhavi Shelke"

Spectrum of Common and Rare Small Molecule Inborn Errors of Metabolism Diagnosed in a Tertiary Care Center of Maharashtra, India

Autor: Anish Tamrakar, Anjali Kale, Suvarna Magar, Ajay Kale, Vinod Ingale, Nilesh Shewale, Madhuri Engade, Madhavi Shelke

Publikováno v: Cureus. 14(7)

Introduction Inborn errors of metabolism (IEM) form a large group of genetic diseases involving defects in genes coding for enzymes, receptors, and cofactors in the metabolic pathways of small and large molecules. The present study is the comprehensi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca7ee0ee05aa4665647fbcc864dc91e9
https://pubmed.ncbi.nlm.nih.gov/36004034

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Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting

Autor: Rayabarapu Pranav Chand, Wankhede Vinit, Varsha Vaidya, Anand Subramaniam Iyer, Madhavi Shelke, Shagun Aggarwal, Suvarna Magar, Sumita Danda, Amita Moirangthem, Shubha Rajendra Phadke, Manisha Goyal, Prajnya Ranganath, Mehul Mistri, Parth Shah, Nidhi Shah, Udhaya Hardik Kotecha

Publikováno v: European Journal of Medical Genetics. 66:104730

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::18c54b1219970d5e8343f6c7d4b7ff3a
https://doi.org/10.1016/j.ejmg.2023.104730

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Exome Sequencing in 403 Indian Children with Neurodevelopmental Disorders: Diagnostic Yield, Utility and Challenges in a Resource-Limited Setting

Autor: Pranav Chand Rayabarapu, Wankhede Vinit, Varsha Vaidya, Anand Subramaniam Iyer, Madhavi Shelke, Shagun Aggarwal, Suvarna Magar, Sumita Danda, Amita Moirangthem, Shubha Rajendra Phadke, Manisha Goyal, Prajnya Ranganath, Mehul Mistri, Parth Shah, Nidhi Shah, Udhaya Hardik Kotecha

Publikováno v: SSRN Electronic Journal.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f4e000474569ee8b337915f33305615f
https://doi.org/10.2139/ssrn.4276535

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Assessment of school readiness of children and factors associated with risk of inadequate school readiness in Ujjain, India: an observational study

Autor: Madhura Anvikar, Ashish Pathak, Vandana Patil, Shreya Shrivastava, Madhavi Shelke, Aditya Mathur

Publikováno v: BMJ Paediatrics Open

ObjectiveSchool readiness is a condition or state indicating that the child is ready to learn in a formal educational set-up. The objective of this study was to estimate the prevalence of and factors associated with school readiness in urban schoolch

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b49dcfcf8daf3c3091882032e8f2a12c
http://europepmc.org/articles/PMC6733334

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A study on clinical correlation of EEG in neonates with perinatal asphyxia

Autor: P. S. Patil, Kiran Haridas, L. S. Deshmukh, Rajendra Shinde, Madhavi Shelke

Publikováno v: International Journal of Contemporary Pediatrics. 6:390

Background: Perinatal asphyxia is the most common and important cause of preventable cerebral injury occurring in the neonatal period. The WHO has estimated that 4 million babies die during the neonatal period every year. According to WHO, perinatal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9b396c903a427ad809ff5b5a4ba5a488
https://doi.org/10.18203/2349-3291.ijcp20190683

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