E-LIB Suche - Ergebnisse für: Lopes, Fatima

1

Case Report: A Novel GNB1 Mutation Causes Global Developmen..:

Da Silva, Jorge Diogo ; Costa, Marta Daniela ; Almeida, Bruno...
Frontiers in Neurology. 12 (2021) - p. , 2021

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

2

A spontaneous cervical epidural hematoma mimicking a stroke..:

Teles, Pedro ; Correia, Joaquim Pedro ; Pappamikail, Lia...
Surgical Neurology International. 11 (2020) - p. 157 , 2020

Link: https://doi.org/10.25259..

3

The Role of AKT3 Copy Number Changes in Brain Abnormalities..:

Lopes, Fátima ; Torres, Fátima ; Soares, Gabriela...
Frontiers in Genetics. 10 (2019) - p. , 2019

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

4

Genomic imbalances defining novel intellectual disability a..:

Lopes, Fátima ; Torres, Fátima ; Soares, Gabriela...
Orphanet Journal of Rare Diseases. 14 (2019) 1 - p. , 2019

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

5

Biallelic variants in the transcription factor PAX7 are a n..:

Feichtinger, René G. ; Mucha, Bettina E. ; Hengel, Holger...
Genetics in Medicine. 21 (2019) 11 - p. 2521-2531 , 2019

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

6

Identification of rare de novo epigenetic variations in con..:

Barbosa, Mafalda ; Joshi, Ricky S. ; Garg, Paras...
Nature Communications. 9 (2018) 1 - p. , 2018

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

7

The contribution of 7q33 copy number variations for intelle..:

Lopes, Fátima ; Torres, Fátima ; Lynch, Sally Ann...
neurogenetics. 19 (2017) 1 - p. 27-40 , 2017

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

8

Whole Gene Deletion of EBF3 Supporting Haploinsufficiency o..:

Lopes, Fátima ; Soares, Gabriela ; Gonçalves-Rocha, Miguel..
Frontiers in Genetics. 8 (2017) - p. , 2017

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

9

Identification of novel genetic causes of Rett syndrome-lik..:

Lopes, Fátima ; Barbosa, Mafalda ; Ameur, Adam...
Journal of Medical Genetics. 53 (2016) 3 - p. 190-199 , 2016

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

10

Variant Rett syndrome in a girl with a pericentric X‐chromo..:

Vieira, José Pedro ; Lopes, Fátima ; Silva‐Fernandes, Anabela...
International Journal of Developmental Neuroscience. 46 (2015) 1 - p. 82-87 , 2015

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

11

ISDN2014_0322: REMOVED: Identification of novel genetic cau..:

Lopes, Fátima ; Barbosa, Mafalda ; Temudo, Teresa...
International Journal of Developmental Neuroscience. 47 (2015) Part_A - p. 99-99 , 2015

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

12

Phenotypic and functional consequences of haploinsufficienc..:

Wen, Jiadi ; Lopes, Fátima ; Soares, Gabriela...
Orphanet Journal of Rare Diseases. 8 (2013) 1 - p. , 2013

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

13

Large-Scale Screening of a Targeted Enterococcus faecalis M..:

Rigottier-Gois, Lionel ; Alberti, Adriana ; Houel, Armel...
PLoS ONE. 6 (2011) 12 - p. e29023 , 2011

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

14

Short‐term memory and cognitive variability in adult fragil..:

de von Flindt, Robert ; Bybel, Bohdan ; Chudley, Albert E..
American Journal of Medical Genetics. 38 (1991) 2-3 - p. 488-492 , 1991

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

15

"Miséria e pobreza" nas vilas de índios sob o Diretório Pom..:

Lopes, Fátima Martins
Sæculum – Revista de História. 26 (2021) 44 - p. 290-307 , 2021

Link: https://doi.org/10.22478..