E-LIB Suche - Ergebnisse für: Betancur, Catalina

1

Organic cation transporter 2 contributes to SSRI antidepres..:

Orrico-Sanchez, Alejandro ; Guiard, Bruno P. ; Manta, Stella...
Translational Psychiatry. 13 (2023) 1 - p. , 2023

2

Characterization of cornea donors at a tissue center in the..:

Cadavid Usuga, Juan Camilo ; Maya Naranjo, María Isabel ; Mesa Mesa, Sara...
Cell and Tissue Banking. 25 (2023) 2 - p. 619-623 , 2023

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

3

Updated consensus guidelines on the management of Phelan–Mc..:

Srivastava, Siddharth ; Sahin, Mustafa ; Buxbaum, Joseph D....
American Journal of Medical Genetics Part A. 191 (2023) 8 - p. 2015-2044 , 2023

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

4

Rare coding variation provides insight into the genetic arc..:

Fu, Jack M. ; Satterstrom, F. Kyle ; Peng, Minshi...
Nature Genetics. 54 (2022) 9 - p. 1320-1331 , 2022

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

5

Strong evidence for genotype–phenotype correlations in Phel..:

Levy, Tess ; Foss-Feig, Jennifer H ; Betancur, Catalina...
Human Molecular Genetics. 31 (2021) 4 - p. 625-637 , 2021

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

6

Psychiatric illness and regression in individuals with Phel..:

Kohlenberg, Teresa M. ; Trelles, M. Pilar ; McLarney, Brittany...
Journal of Neurodevelopmental Disorders. 12 (2020) 1 - p. , 2020

Link: https://doi.org/10.1186/..

7

Gene constraint and genotype–phenotype correlations in neur..:

Betancur, Catalina ; Buxbaum, Joseph D
Current Opinion in Genetics & Development. 65 (2020) - p. 69-75 , 2020

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

8

Large-Scale Exome Sequencing Study Implicates Both Developm..:

Satterstrom, F. Kyle ; Kosmicki, Jack A. ; Wang, Jiebiao...
Cell. 180 (2020) 3 - p. 568-584.e23 , 2020

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

9

Viral vector‐mediated Cre recombinase expression in substan..:

Rezai Amin, Sara ; Gruszczynski, Carole ; Guiard, Bruno P....
Journal of Neurochemistry. 150 (2019) 3 - p. 330-340 , 2019

Link: https://doi.org/10.1111/..

10

Rigor in science and science reporting: updated guidelines ..:

Buxbaum, Joseph D. ; Baron-Cohen, Simon ; Anagnostou, Evdokia...
Molecular Autism. 10 (2019) 1 - p. , 2019

Link: https://doi.org/10.1186/..

11

Neuropsychiatric decompensation in adolescents and adults w..:

Kolevzon, Alexander ; Delaby, Elsa ; Berry-Kravis, Elizabeth..
Molecular Autism. 10 (2019) 1 - p. , 2019

Link: https://doi.org/10.1186/..

12

Recessive gene disruptions in autism spectrum disorder:

Autism Sequencing Consortium ; Doan, Ryan N. ; Lim, Elaine T....
Nature Genetics. 51 (2019) 7 - p. 1092-1098 , 2019

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

13

Clinical and neurocognitive issues associated with Bosch‐Bo..:

Bojanek, Erin K. ; Mosconi, Matthew W. ; Guter, Stephen...
American Journal of Medical Genetics Part A. 182 (2019) 1 - p. 213-218 , 2019

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

14

Delineation of the genetic and clinical spectrum of Phelan-..:

De Rubeis, Silvia ; Siper, Paige M. ; Durkin, Allison...
Molecular Autism. 9 (2018) 1 - p. , 2018

Link: https://doi.org/10.1186/..

15

The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinem..:

Richard, Anne Claire ; Rovelet‐Lecrux, Anne ; Delaby, Elsa...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 171 (2016) 3 - p. 377-382 , 2016

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