NDLI: A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders

Content Provider	Scilit
Author	Ngo, Kathie J. Rexach, Jessica E. Lee, Hane Petty, Lauren E. Perlman, Susan Valera, Juliana M. Deignan, Joshua L. Mao, Yuanming Aker, Mamdouh Posey, Jennifer E. Jhangiani, Shalini N. Coban‐Akdemir, Zeynep H. Boerwinkle, Eric Muzny, Donna Nelson, Alexandra B. Hassin‐Baer, Sharon Poke, Gemma Neas, Katherine Geschwind, Michael D. Grody, Wayne W. Gibbs, Richard Geschwind, Daniel H. Lupski, James R. Below, Jennifer E. Nelson, Stanley F. Fogel, Brent L.
Copyright Year	2019
Description	Journal: Human Mutation
Related Links	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7182470/pdf
Ending Page	501
Page Count	15
Starting Page	487
e-ISSN	10981004
DOI	10.1002/humu.23946
Journal	Human Mutation
Issue Number	2
Volume Number	41
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2020-02-01
Access Restriction	Open
Subject Keyword	Journal: Human Mutation Clinical Neurology Cerebellar Ataxia Diagnostic Testing Spastic Paraparesis Spastic Paraplegia Spinocerebellar Ataxia
Content Type	Text
Resource Type	Article

Central Library (ISO-9001:2015 Certified)
Indian Institute of Technology Kharagpur
Kharagpur, West Bengal, India | PIN - 721302

See location in the Map
03222 282435
Mail: support@ndl.gov.in

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders