E-LIB Suche - Ergebnisse für: Llerena Jr., Juan

1

P233: Health-related quality of life in achondroplasia: Fin..:

Llerena Jr, Juan ; Fano, Virginia ; Rosselli, Pablo...
Genetics in Medicine Open. 1 (2023) 1 - p. 100261 , 2023

2

Challenges and hurdles to cope with Pompe disease in the Br..:

Llerena Jr, Juan ; Sixel, Bruna ; Thomazinho, Paula...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107211 , 2023

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

3

Lifetime Impact Study for Achondroplasia (LISA): Findings f..:

Llerena Jr., Juan ; Rosselli, Pablo ; Aragão, Amanda...
Genetics in Medicine Open. , 2023

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

4

Achondroplasia in Latin America: practical recommendations ..:

Llerena Jr, Juan ; Kim, Chong Ae ; Fano, Virginia...
BMC Pediatrics. 22 (2022) 1 - p. , 2022

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

5

Impact of achondroplasia on Latin American patients: a syst..:

Fano, Virginia ; Kim, Chong A. ; Rosselli, Pablo...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

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

6

RASopathy Cohort of Patients Enrolled in a Brazilian Refere..:

Chaves Rabelo, Natana ; Gomes, Maria Eduarda ; de Oliveira Moraes, Isabelle...
The Application of Clinical Genetics. 15 (2022) - p. 153-170 , 2022

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

7

Respiratory function during enzyme replacement therapy in l..:

Stockton, David W. ; Kishnani, Priya ; van der Ploeg, Ans...
Journal of Neurology. 267 (2020) 10 - p. 3038-3053 , 2020

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

8

GAAvariants and phenotypes among 1,079 patients with Pompe ..:

Reuser, Arnold J. J. ; Ploeg, Ans T. ; Chien, Yin‐Hsiu...
Human Mutation. 40 (2019) 11 - p. 2146-2164 , 2019

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

9

Impact of time from diagnosis to treatment on lung function..:

Stockton, David W. ; Boentert, Matthias ; Byrne, Barry...
Molecular Genetics and Metabolism. 126 (2019) 2 - p. S140 , 2019

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

10

Severe phenotype in MPS II patients associated with a large..:

Brusius‐Facchin, Ana Carolina ; De Souza, Carolina Fischinger Moura ; Schwartz, Ida Vanessa D....
American Journal of Medical Genetics Part A. 158A (2012) 5 - p. 1055-1059 , 2012

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

11

Five haplotypes account for fifty‐five percent of ATM mutat..:

Coutinho, Gabriela ; Mitui, Midori ; Campbell, Catarina...
American Journal of Medical Genetics Part A. 126A (2003) 1 - p. 33-40 , 2003

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

12

The 3120 +1G→A Splicing Mutation in CFTR Is Common in Brazi..:

CABELLO, GISELDA M.K. ; CABELLO, PEDRO H. ; LLERENA JR., JUAN..
Human Biology. 73 (2001) 3 - p. 403-409 , 2001

Link: https://www.jstor.org/st..

13

Cystic Fibrosis: Low Frequency of DF508 Mutation in 2 Popul..:

CABELLO, GISELDA M.K. ; MOREIRA, ADRIANA F. ; HOROVITZ, DAFNE...
Human Biology. 71 (1999) 2 - p. 189-196 , 1999

Link: https://www.jstor.org/st..

14

A de novo complex chromosomal rearrangement with nine break..:

Joyce, Christine A ; Cabral de Almeida, José Carlos ; Santa Rose, Antonio Abílio...
Clinical Genetics. 56 (1999) 1 - p. 86-92 , 1999

Link: https://doi.org/10.1034/..

15

Identification of a founder effect involving n.197C>T varia..:

Gomes, Maria Eduarda ; Kehdy, Fernanda ; de Neves-Manta, Fernanda Saloum...
Scientific Reports. 14 (2024) 1 - p. , 2024

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