E-LIB Suche - Ergebnisse für: Parente Freixo, João

1

Acute onset of adult Alexander disease and the concept of G..:

Godinho, Filipe ; Guerreiro, Carolina ; Parente Freixo, João..
Journal of the Neurological Sciences. 453 (2023) - p. 120800 , 2023

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

2

Case Report: Patient with deficiency of ADA2 presenting leu..:

Simão Raimundo, Diana ; Cordeiro, Ana Isabel ; Parente Freixo, João...
Frontiers in Pediatrics. 11 (2023) - p. , 2023

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

3

Hemophagocytic lymphohistiocytosis in an adolescent with NL..:

Hormigo, Inês ; Valente Pinto, Marta ; Cordeiro, Ana Isabel...
Pediatric Allergy and Immunology. 34 (2023) 9 - p. , 2023

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

4

Clinical Role of Codon 87 of the CYFIP2 Gene in Early Infan..:

Da Silva Cardoso, Juliana ; Gomes, Rita ; Abreu, Maria...
Cureus. , 2023

Link: https://doi.org/10.7759/..

5

Congenital heart defects associated with pathogenic variant..:

Quental, Rita ; Gonçalves, Daniel ; Rodrigues, Esmeralda...
American Journal of Medical Genetics Part A. 188 (2022) 4 - p. 1311-1316 , 2022

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

6

Spasmodic cough preceding CANVAS phenotype in a family with..:

Malaquias, Maria João ; Mendes Pinto, Catarina ; Sardoeira, Ana...
Neurological Sciences. 42 (2020) 2 - p. 749-753 , 2020

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

7

Familial occipital lobe epilepsy associated with GABAA rece..:

Fonte, Joana ; Videira, Gonçalo ; Chorão, Rui...
Seizure: European Journal of Epilepsy. 112 (2023) - p. 139-142 , 2023

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

8

Imaging in FIG 4—Related Parkinsonism:

Silva, Lénia ; Freixo, João Parente ; Brandão, Ana Filipa..
Movement Disorders Clinical Practice. 10 (2023) 10 - p. 1566-1567 , 2023

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

9

Aberrant Splicing Caused by a Novel VPS16 Variant Linked to..:

Santos, Mariana ; Massano, João ; Lopes, Alexandra Manuel...
neurogenetics. , 2023

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

10

Diagnosis across a cohort of "atypical" atypical and comple..:

Malaquias, Maria João ; Igreja, Liliana ; Nogueira, Célia...
Parkinsonism & Related Disorders. 111 (2023) - p. 105408 , 2023

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

11

Lissencephaly With Cerebellar Hypoplasia Due To a New RELN ..:

Igreja, Liliana ; Menezes, Catarina ; Pinto, Pedro S...
Pediatric Neurology. 149 (2023) - p. 137-140 , 2023

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

12

TANGO2 Deficiency Disorder: Two Cases of Developmental Dela..:

Dias, Joana Valente ; Carvalho, Ana Araújo ; Freixo, João Parente...
Pediatric Neurology. 147 (2023) - p. 52-55 , 2023

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

13

Case Report: Wide Spectrum of Manifestations of Ligase IV D..:

Castro, Ana Costa e ; Maia, Raquel ; Batalha, Sara...
Frontiers in Immunology. 13 (2022) - p. , 2022

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

14

eP169: A case report of Ververi-Brady syndrome: Expanding t..:

Ferreira, Susana Lemos ; Freixo, João Parente ; Amorim, Marta
Genetics in Medicine. 24 (2022) 3 - p. S102-S103 , 2022

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

15

X-linked hypophosphatemic rickets: a new mutation:

Maio, Patrícia ; Mano, Lia ; Rocha, Sara...
Brazilian Journal of Nephrology. 43 (2021) 2 - p. 279-282 , 2021

Link: https://doi.org/10.1590/..