E-LIB Suche - Ergebnisse für: Steiner, Carlos Eduardo - Sprache DE

Personensuche X

Sortierung: Relevanz

Sortierung: Jahr

1

Genome Sequencing in an Individual Presenting with 22q11.2 ..:

de Oliveira-Sobrinho, Ruy Pires ; Appenzeller, Simone ; Holanda, Ianne Pessoa...
Genes. 15 (2024) 4 - p. 513 , 2024

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

2

Low‐pass whole genome sequencing as a cost‐effective altern..:

Mazzonetto, Patricia C. ; Villela, Darine ; Krepischi, Ana C. V....
American Journal of Medical Genetics Part A. , 2024

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

3

Variants in KMT2A in Three Individuals with Previous Suspic..:

Silveira, Henrique Garcia ; Steiner, Carlos Eduardo ; Toccoli, Giovana...
Genes. 15 (2024) 2 - p. 211 , 2024

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

4

Re: "Molecular analysis of 9 unrelated families presenting ..:

Steiner, Carlos Eduardo ; Bonadia, Luciana Cardoso
Journal of Inborn Errors of Metabolism and Screening. 12 (2024) - p. , 2024

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

5

Syndromic Retinitis Pigmentosa: A 15-Patient Study:

Holanda, Ianne Pessoa ; Rim, Priscila Hae Hyun ; Guaragna, Mara Sanches...
Genes. 15 (2024) 4 - p. 516 , 2024

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

6

Disease progression in Sanfilippo type B: Case series of Br..:

Montenegro, Yorran Hardman Araújo ; Kubaski, Francyne ; Trapp, Franciele Barbosa...
Genetics and Molecular Biology. 47 (2024) 1 - p. , 2024

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

7

Glycogen Storage Disease: Expert Opinion on Clinical Diagno..:

de Marchi, Rafael ; Nalin, Tatiele ; Sperb-Ludwig, Fernanda...
Genes. 14 (2023) 12 - p. 2219 , 2023

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

8

Sjogren-Larsson syndrome brain volumetric reductions demons..:

Castro, José Thiago de Souza de ; Saab, Camilo Lotfi ; Souto, Mariam Patrícia Auada...
Arquivos de Neuro-Psiquiatria. 81 (2023) 9 - p. 809-815 , 2023

Link: https://doi.org/10.1055/..

9

Dual Molecular Diagnoses of Recessive Disorders in a Child ..:

Correia-Costa, Gabriela Roldão ; dos Santos, Ana Mondadori ; de Leeuw, Nicole...
Genes. 13 (2022) 12 - p. 2377 , 2022

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

10

Morquio‐like dysostosis multiplex presenting with neuronopa..:

Stockler‐Ipsiroglu, Sylvia ; Yazdanpanah, Nahid ; Yazdanpanah, Mojgan...
JIMD Reports. 60 (2021) 1 - p. 23-31 , 2021

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

11

Sanfilippo syndrome type B: Analysis of patients diagnosed ..:

Montenegro, Yorran Hardman Araújo ; de Souza, Carolina Fischinger Moura ; Kubaski, Francyne...
American Journal of Medical Genetics Part A. 188 (2021) 3 - p. 760-767 , 2021

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

12

Clinical and Molecular Investigation of Familial Multiple L..:

Mejía Granados, Diana Marcela ; de Baptista, Marcella Bergamini ; Bonadia, Luciana Cardoso..
Clinical, Cosmetic and Investigational Dermatology. 13 (2020) - p. 1-10 , 2020

Link: https://doi.org/10.2147/..

13

Clinical findings in Brazilian patients with adult GM1 gang..:

Giugliani, Luciana ; Steiner, Carlos Eduardo ; Kim, Chong Ae...
JIMD Reports. 49 (2019) 1 - p. 96-106 , 2019

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

14

Breakpoint mapping at nucleotide resolution in X-autosome b..:

Moysés-Oliveira, Mariana ; Di-Battista, Adriana ; Zamariolli, Malú...
European Journal of Human Genetics. 27 (2019) 5 - p. 760-771 , 2019

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

15

Glycogen storage diseases: Twenty‐seven new variants in a c..:

Sperb-Ludwig, Fernanda ; Pinheiro, Franciele Cabral ; Bettio Soares, Malu...
Molecular Genetics & Genomic Medicine. 7 (2019) 11 - p. , 2019

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

1-15