E-LIB Suche - Ergebnisse für: Ramos, Fabiana

1

Fetal Bowel Dilatation Associated With LCHAD Deficiency: A ..:

Vieira, Vanessa ; Sousa, Filipa ; Ramos, Fabiana..
Journal of Diagnostic Medical Sonography. 39 (2023) 6 - p. 633-636 , 2023

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

2

Da submissão à subversão: proposta de abordagem do livro li..:

Mendes, Jackeline Pereira ; Ramos, Fabiana
Miguilim - Revista Eletrônica do Netlli. 12 (2023) 3 - p. 57-74 , 2023

Link: https://doi.org/10.47295..

3

Advantages of current fetal neuroimaging and genomic techno..:

M Almeida, Pedro ; Sá, Joaquim ; Branco, Miguel..
European Journal of Medical Genetics. 66 (2023) 1 - p. 104652 , 2023

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

4

Ultrasound and molecular prenatal diagnosis of Beckwith-Wie..:

de Vasconcelos Gaspar, Andreia ; Branco, Miguel ; Galhano, Eulália.
Radiology Case Reports. 17 (2022) 12 - p. 4914-4919 , 2022

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

5

A serious and unusual presentation of congenital isolated A..:

Vieira, Inês Henriques ; Mourinho Bala, Nádia ; Ramos, Fabiana...
Endocrinology, Diabetes & Metabolism Case Reports. 2022 (2022) - p. , 2022

Link: https://doi.org/10.1530/..

6

DEPDC5 variant in focal cortical dysplasia: a case report a..:

Jesus-Ribeiro, Joana ; Pereira, Cristina ; Robalo, Conceição...
Oxford Medical Case Reports. 2021 (2021) 5 - p. , 2021

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

7

Simpson‐Golabi‐Behmel syndrome: One family, same mutation, ..:

Fernandes, Carla ; Paúl, Alexandra ; Venâncio, Maria Margarida.
American Journal of Medical Genetics Part A. 185 (2021) 8 - p. 2502-2506 , 2021

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

8

Why could a woman have three Trisomy 21 pregnancies? – a ca..:

Magalhães, Magda ; Marques, Cecília ; Ramos, Fabiana...
Clinical Case Reports. 5 (2017) 8 - p. 1222-1225 , 2017

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

9

Peripheral Attentional Targets under Covert Attention Lead ..:

Silva, Gilberto ; Ribeiro, Maria J. ; Costa, Gabriel N....
PLOS ONE. 11 (2016) 2 - p. e0148600 , 2016

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

10

Copy number variants prioritization after array-CGH analysi..:

Carreira, Isabel Marques ; Ferreira, Susana Isabel ; Matoso, Eunice...
Molecular Cytogenetics. 8 (2015) 1 - p. , 2015

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

11

Oculo-auriculo-vertebral spectrum: Clinical and molecular a..:

Beleza-Meireles, Ana ; Hart, Rachel ; Clayton-Smith, Jill...
European Journal of Medical Genetics. 58 (2015) 9 - p. 455-465 , 2015

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

12

Abnormal late visual responses and alpha oscillations in ne..:

Ribeiro, Maria J ; d'Almeida, Otília C ; Ramos, Fabiana...
Journal of Neurodevelopmental Disorders. 6 (2014) 1 - p. , 2014

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

13

Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gen..:

Matoso, Eunice ; Ramos, Fabiana ; Ferrão, José...
Molecular Cytogenetics. 7 (2014) 1 - p. , 2014

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

14

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive ..:

Thomas, Anna C. ; Williams, Hywel ; Setó-Salvia, Núria...
The American Journal of Human Genetics. 95 (2014) 5 - p. 611-621 , 2014

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

15

Intellectual disability, coarse face, relative macrocephaly..:

Sousa, Sérgio B. ; Ramos, Fabiana ; Garcia, Paula...
American Journal of Medical Genetics Part A. 164 (2013) 1 - p. 10-14 , 2013

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