E-LIB Suche - Ergebnisse für: Chiara Manzini, M.

1

Biallelic MFSD2A variants associated with congenital microc..:

Scala, Marcello ; Chua, Geok Lin ; Chin, Cheen Fei...
European Journal of Human Genetics. 28 (2020) 11 - p. 1509-1519 , 2020

Link: https://doi.org/10.1038/..

2

Ethnically diverse causes of Walker-Warburg syndrome (WWS):..:

Chiara Manzini, M. ; Gleason, Danielle ; Chang, Bernard S....
Human Mutation. 29 (2008) 11 - p. E231-E241 , 2008

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

3

Severe muscle–eye–brain disease is associated with a homozy..:

Teber, Serap ; Sezer, Taner ; Kafalı, Mehpare...
European Journal of Paediatric Neurology. 12 (2008) 2 - p. 133-136 , 2008

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

4

Genetic blueprint of congenital muscular dystrophies with b..:

Safwat, Sylvia ; Flannery, Kyle P. ; El Beheiry, Ahmed A....
Neurogenetics. 25 (2024) 2 - p. 93-102 , 2024

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

5

Standardization of zebrafish drug testing parameters for mu..:

Karuppasamy, Muthukumar ; English, Katherine G. ; Henry, Clarissa A....
Disease Models & Mechanisms. 17 (2024) 1 - p. , 2024

Link: https://doi.org/10.1242/..

6

Removal of pomt1 in zebrafish leads to loss of α-dystroglyc..:

Karas, Brittany F ; Terez, Kristin R ; Mowla, Shorbon...
Human Molecular Genetics. 33 (2024) 8 - p. 709-723 , 2024

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

7

Duplicated zebrafish (Danio rerio) inositol phosphatases in..:

Shukla, Dhyanam ; Gural, Brian M. ; Cauley, Edmund S....
Development Genes and Evolution. 233 (2023) 1 - p. 25-34 , 2023

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

8

Exploring emotional contagion in zebrafish: A virtual-demon..:

Burbano, Daniel ; Senthilkumar, Sahana ; Manzini, M. Chiara
Behavioural Processes. 213 (2023) - p. 104961 , 2023

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

9

Cc2d1b Contributes to the Regulation of Developmental Myeli..:

Acheta, Jenica ; Hong, Jiayue ; Jeanette, Haley...
Frontiers in Molecular Neuroscience. 15 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

10

Capillary Electrophoresis Mass Spectrometry for Scalable Si..:

Shen, Bowen ; Pade, Leena R. ; Choi, Sam B....
Frontiers in Chemistry. 10 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

11

Unraveling the mysteries of MYT1L: From reprogramming facto..:

Bhattacharya, Aniket ; Manzini, M. Chiara
Neuron. 109 (2021) 23 - p. 3713-3715 , 2021

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

12

Digging behavior discrimination test to probe burrowing and..:

Pond, Heather L. ; Heller, Abigail T. ; Gural, Brian M....
Journal of Neuroscience Research. 99 (2021) 9 - p. 2046-2058 , 2021

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

13

Data-Dependent Acquisition Ladder for Capillary Electrophor..:

Choi, Sam B. ; Muñoz-LLancao, Pablo ; Manzini, M. Chiara.
Analytical Chemistry. 93 (2021) 48 - p. 15964-15972 , 2021

Link: https://doi.org/10.1021/..

14

Myopathic changes associated with psychomotor delay and sei..:

Saredi, Simona ; Cauley, Edmund S. ; Ruggieri, Alessandra...
Muscle & Nerve. 62 (2020) 2 - p. 266-271 , 2020

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

15

Cell-based analysis of CAD variants identifies individuals ..:

del Caño-Ochoa, Francisco ; Ng, Bobby G. ; Abedalthagafi, Malak...
Genetics in Medicine. 22 (2020) 10 - p. 1598-1605 , 2020

Link: https://doi.org/10.1038/..