E-LIB Suche - Ergebnisse für: Deshpande, Charulata

1

Deep intronic variant causes aberrant splicing of ATP7A in ..:

Harkness, J. Robert ; Thomas, Huw B. ; Urquhart, Jill E....
European Journal of Medical Genetics. 67 (2024) - p. 104907 , 2024

Link: https://doi.org/10.1016/..

2

Management of Chronic Pain of Temporomandibular Joint (TMJ)..:

Roma Sumatchand, Jain ; Deshpande, Charulata ; Suryavanshi, Varsha S....
Neuromodulation: Technology at the Neural Interface. 26 (2023) 3 - p. S11 , 2023

Link: https://doi.org/10.1016/..

3

Recurrent de novo missense variants across multiple histone..:

Tessadori, Federico ; Duran, Karen ; Knapp, Karen...
The American Journal of Human Genetics. 109 (2022) 4 - p. 750-758 , 2022

Link: https://doi.org/10.1016/..

4

Biallelic variants in CENPF causing a phenotype distinct fr..:

Cappuccio, Gerarda ; Brillante, Simona ; Tammaro, Roberta...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 190 (2022) 1 - p. 102-108 , 2022

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

5

Newer Volatile Anesthetic Agents in Cardiac Anesthesia: Rev..:

Mandke, Alka ; Sarkar, Manjula ; Deshpande, Charulata...
Journal of Cardiac Critical Care TSS. 5 (2021) 1 - p. 054-059 , 2021

Link: https://doi.org/10.1055/..

6

Use of whole genome sequencing to determine genetic basis o..:

Schon, Katherine R ; Horvath, Rita ; Wei, Wei...
BMJ. , 2021

Link: https://doi.org/10.1136/..

7

3p Interstitial Deletion: Novel Case Report and Review:

Ţuţulan-Cuniţă, Andreea Cristina ; Papuc, Sorina Mihaela ; Arghir, Aurora...
Journal of Child Neurology. 27 (2012) 8 - p. 1062-1066 , 2012

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

8

Type 1 collagenopathy presenting with a Russell–Silver phen..:

Parker, Michael J. ; Deshpande, Charulata ; Rankin, Julia...
American Journal of Medical Genetics Part A. 155 (2011) 6 - p. 1414-1418 , 2011

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

9

The pathogenic m.3243A>T mitochondrial DNA mutation is asso..:

Alston, Charlotte L. ; Bender, Andreas ; Hargreaves, Iain P....
Neuromuscular Disorders. 20 (2010) 6 - p. 403-406 , 2010

Link: https://doi.org/10.1016/..

10

Dhavendra Kumar (Ed): Genetic disorders of the Indian subco..:

Deshpande, Charulata
Human Genetics. 120 (2006) 3 - p. 446-446 , 2006

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

11

Recurrent de novo missense variants across multiple histone..:

Tessadori, Federico ; Duran, Karen ; Knapp, Karen...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9069069/. , 2022

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

12

Recurrent de novo missense variants across multiple histone..:

Tessadori, Federico ; Duran, Karen ; Knapp, Karen...
https://eprints.soton.ac.uk/454960/1/AJHG_D_21_00815_R2_accepted.pdf. , 2022

Link: https://eprints.soton.ac..

13

Recurrent de novo missense variants across multiple histone..:

Tessadori, Federico ; Duran, Karen ; Knapp, Karen...
boreal:263802. , 2022

Link: http://hdl.handle.net/20..

14

Recurrent de novo missense variants across multiple histone..:

Tessadori, Federico ; Duran, Karen ; Knapp, Karen...
boreal:263802. , 2022

Link: http://hdl.handle.net/20..

15

Recurrent de novo missense variants across multiple histone..:

Tessadori, Federico ; Duran, Karen ; Knapp, Karen...
American Journal of Human Genetics. , 2022

Link: https://ddd.uab.cat/reco..