E-LIB Suche - Ergebnisse für: RASKIN, SALMO

1

Multiple copy number variation in a patient with Kleefstra ..:

Lee, Thomas Nohama ; Rechetello, Henrique El Laden ; Lima Júnior, João Batista De Arêa...
Revista Paulista de Pediatria. 42 (2024) - p. , 2024

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

2

Unraveling the genetic landscape of undiagnosed cerebellar ..:

Novis, Luiz Eduardo ; Alavi, Shahryar ; Pellerin, David...
Parkinsonism & Related Disorders. 119 (2024) - p. 105961 , 2024

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

3

Pure cerebellar ataxia due to bi‐allelic PRDX3 variants inc..:

Efthymiou, Stephanie ; Novis, Luiz E. ; Koutsis, Georgios...
Annals of Clinical and Translational Neurology. 10 (2023) 10 - p. 1910-1916 , 2023

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

4

A mutational hotspot in AMOTL1 defines a new syndrome of or..:

Strong, Alanna ; Rao, Soumya ; von Hardenberg, Sandra...
American Journal of Medical Genetics Part A. 191 (2023) 5 - p. 1227-1239 , 2023

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

5

A Brazilian case of IFAP syndrome with severe congenital ic..:

Migliavacca, Michele Patricia ; Fock, Rodrigo Ambrosio ; Almeida, Nadia...
Revista Paulista de Pediatria. 41 (2023) - p. , 2023

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

6

Phenocopy in a patient with triple negative breast cancer: ..:

Costa, Gustavo Henrique Morcelli da ; Dias, Eduarda Scoto ; Pegoraro, Naiara Bozza...
einstein (São Paulo). 21 (2023) - p. , 2023

Link: https://doi.org/10.31744..

7

Clinical, Electroencephalographic and Neuroimage Findings o..:

Cassou, Emanuel ; De Paola, Luciano ; Raskin, Salmo...
Neurology. 100 (2023) 17_supplement_2 - p. , 2023

Link: https://doi.org/10.1212/..

8

A Teenager with Benign Hereditary Chorea and Selective Toot..:

Andreucci Martins Bonilha, Patrícia Áurea ; Martins Nunes, Thábata Emanuelle ; Cassarotti, Beatriz...
Movement Disorders Clinical Practice. 10 (2023) S3 - p. , 2023

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

9

Autism and duplication of 17q12q21.2 by array-CGH: a case r..:

Weingartner, Alana ; Pegoraro, Naiara Bozza ; Maglioni, Rie Tiba...
Revista Paulista de Pediatria. 41 (2023) - p. , 2023

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

10

New Horizons on the Diagnosis of Hereditary Ataxia:

Novis, Luiz Eduardo ; Raskin, Salmo ; Teive, Helio A.G.
Movement Disorders Clinical Practice. 10 (2023) 11 - p. 1597-1598 , 2023

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

11

Muscle cramps profile among spinocerebellar ataxias:

Franklin, GustavoLeite ; Ferreira Camargo, CarlosHenrique ; Balaban, Daniel...
Annals of Indian Academy of Neurology. 25 (2022) 4 - p. 718 , 2022

Link: https://doi.org/10.4103/..

12

IDENTIFICAÇÃO DE DELEÇÃO TERMINAL 3P EM PACIENTE COM TRANST..:

ROCCO, Mateus ; NAKAMURA, Beatriz Sayuri ; ZINI, Cassio...
Revista Médica do Paraná. 79 (2022) 2 - p. 1660 , 2022

Link: https://doi.org/10.55684..

13

ORAL REHABILITATION OF PATIENTS WITH ECTODERMAL DYSPLASIA: ..:

Santos, Gabriel May Dos ; Gonçalves, Jussara Maria ; Filho, Flares Baratto...
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology. 134 (2022) 3 - p. e139 , 2022

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

14

Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing De..:

Stingl, Katarina ; Baumann, Britta ; De Angeli, Pietro...
International Journal of Molecular Sciences. 23 (2022) 12 - p. 6868 , 2022

Link: https://doi.org/10.3390/..

15

DEFICIÊNCIA DA GLICOSE-6-FOSFATO DESIDROGENASE EM PACIENTE ..:

DUARTE, Jéssica Braz ; PEGORARO, Naiara Bozza ; MAGLIONI, Rie Tiba...
Revista Médica do Paraná. 79 (2022) 2 - p. 1658 , 2022

Link: https://doi.org/10.55684..