E-LIB Suche - Ergebnisse für: Ganapathy, Aparna

1

Targeted Sequencing Detects Variants That May Contribute to..:

Mahadevan, Jayant ; Sud, Reeteka ; Nadella, Ravi Kumar...
Indian Journal of Psychological Medicine. 44 (2021) 5 - p. 516-522 , 2021

Link: https://doi.org/10.1177/..

2

Determining Cost-Optimal Next-Generation Sequencing Panels ..:

Katragadda, Shanmukh ; Hall, Taryn O ; Bettadapura, Radhakrishna...
Clinical Chemistry. 67 (2021) 8 - p. 1122-1132 , 2021

Link: https://doi.org/10.1093/..

3

Charcot-Marie-Tooth disease type 2S: identical novel missen..:

Chandrasekharan, Soumya V. ; Nair, Sruthi S. ; Ganapathy, Aparna..
Neurological Sciences. 43 (2021) 1 - p. 719-722 , 2021

Link: https://doi.org/10.1007/..

4

Lipoprotein Lipase Deficiency:

Kuthiroly, Shwetha ; Yesodharan, Dhanya ; Radhakrishnan, Natasha...
The Indian Journal of Pediatrics. 88 (2020) 2 - p. 147-153 , 2020

Link: https://doi.org/10.1007/..

5

Lethal Cenani Lenz syndrome in two consecutive pregnancies:..:

Yesodharan, Dhanya ; Krishnan, Vivek ; Nair, Indu R....
American Journal of Medical Genetics Part A. 185 (2020) 2 - p. 620-624 , 2020

Link: https://doi.org/10.1002/..

6

Multi-gene testing in neurological disorders showed an impr..:

Ganapathy, Aparna ; Mishra, Avshesh ; Soni, Megha Rani...
Journal of Neurology. 266 (2019) 8 - p. 1919-1926 , 2019

Link: https://doi.org/10.1007/..

7

Chronic Mucocutaneous Candidiasis in an Adolescent Boy Due ..:

Bhattad, Sagar ; Dinakar, Chitra ; Pinnamaraju, Haneesha..
Journal of Clinical Immunology. 39 (2019) 6 - p. 596-599 , 2019

Link: https://doi.org/10.1007/..

8

Clinical and genetic analysis of Indian patients with NDP-r..:

Sudha, Dhandayuthapani ; Ganapathy, Aparna ; Mohan, Puja...
International Ophthalmology. 38 (2017) 3 - p. 1251-1260 , 2017

Link: https://doi.org/10.1007/..

9

Identification of Novel Mutations inABCA4Gene: Clinical and..:

Battu, Rajani ; Verma, Anshuman ; Hariharan, Ramesh...
BioMed Research International. 2015 (2015) - p. 1-10 , 2015

Link: https://doi.org/10.1155/..

10

Non-Syndromic Hearing Impairment in India: High Allelic Het..:

Ganapathy, Aparna ; Pandey, Nishtha ; Srisailapathy, C. R. Srikumari...
PLoS ONE. 9 (2014) 1 - p. e84773 , 2014

Link: https://doi.org/10.1371/..

11

1q42.12q42.2 Deletion in a Child with Midline Defects and H..:

Radha Rama Devi, Akella ; Ganapathy, Aparna ; Mannan, Ashraf U..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6528072/. , 2019

Link: http://www.ncbi.nlm.nih...

12

Targeted sequencing of the DMD locus: A comprehensive diagn..:

Aravind, Sankaramoorthy ; Ashley, Berty ; Mannan, Ashraf...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6886143/. , 2019

Link: http://www.ncbi.nlm.nih...

13

Identification of a case of SRD5A3-congenital disorder of g..:

Gupta, Neerja ; Verma, Gaurav ; Kabra, Madhulika..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057243/. , 2018

Link: http://www.ncbi.nlm.nih...

14

Non-Syndromic Hearing Impairment in India: high Allelic Het..:

Ganapathy, Aparna ; Pandey, Nishtha ; Srisailapathy, C. R. Srikumari...
Plos One. -9 : 1 (2014), [10] p. -PLoS One. - 1932-6203. , 2014

Link: http://hdl.handle.net/24..

15

Functional consequences of novel connexin 26 mutations asso..:

Mani, Ram Shankar ; Ganapathy, Aparna ; Jalvi, Rajeev...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986212. , 2009

Link: http://www.ncbi.nlm.nih...