E-LIB Suche - Ergebnisse für: Gravina, Luis Pablo

1

Challenges in genetic diagnosis, co‐occurrence of 22q11.2 d..:

Chinton, Josefina ; Huckstadt, Victoria ; Foncuberta, Maria Eugenia...
American Journal of Medical Genetics Part A. 188 (2022) 8 - p. 2505-2508 , 2022

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

2

Noonan syndrome with loose anagen hair with variants in the..:

Huckstadt, Victoria ; Chinton, Josefina ; Gomez, Abel..
American Journal of Medical Genetics Part A. 185 (2021) 4 - p. 1256-1260 , 2021

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

3

Molecular analysis of GALT gene in Argentinian population: ..:

Crespo, Carolina ; Eiroa, Hernán ; Otegui, María Inés...
Molecular Genetics and Metabolism Reports. 25 (2020) - p. 100695 , 2020

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

4

Providing more evidence on LZTR1 variants in Noonan syndrom..:

Chinton, Josefina ; Huckstadt, Victoria ; Mucciolo, Mafalda...
American Journal of Medical Genetics Part A. 182 (2019) 2 - p. 409-414 , 2019

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

5

Genotype–phenotype correlation of SMN locus genes in spinal..:

Medrano, Sofía ; Monges, Soledad ; Gravina, Luis Pablo...
European Journal of Paediatric Neurology. 20 (2016) 6 - p. 910-917 , 2016

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

6

Mannose-binding lectin gene as a modifier of the cystic fib..:

Gravina, Luis Pablo ; Crespo, Carolina ; Giugno, Hilda...
Journal of Cystic Fibrosis. 14 (2015) 1 - p. 78-83 , 2015

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

7

Prevalence of DFNB1 mutations in Argentinean children with ..:

Gravina, Luis Pablo ; Foncuberta, María Eugenia ; Prieto, María Eugenia...
International Journal of Pediatric Otorhinolaryngology. 74 (2010) 3 - p. 250-254 , 2010

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

8

Influence of β2‐adrenoceptor polymorphisms on the response ..:

Giubergia, Verónica ; Gravina, Luis Pablo ; Castaños, Claudio..
Pediatric Pulmonology. 43 (2008) 5 - p. 421-425 , 2008

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

9

Carrier frequency of the 35delG and A1555G deafness mutatio..:

Gravina, Luis Pablo ; Foncuberta, María Eugenia ; Estrada, Rosaura Caron..
International Journal of Pediatric Otorhinolaryngology. 71 (2007) 4 - p. 639-643 , 2007

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

10

Molecular analysis of GALT gene in Argentinian population: ..:

Crespo, Carolina ; Eiroa, Hernán ; Otegui, María Inés...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7733017/. , 2020

Link: http://www.ncbi.nlm.nih...

11

Mannose-binding lectin gene as a modifier of the cystic fib..:

Gravina, Luis Pablo ; Crespo, Carolina ; Giugno, Hilda...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.jcf.2014.07.012. ,

Link: http://hdl.handle.net/11..

12

Molecular analysis of GALT gene in Argentinian population: ..:

Carolina Crespo ; Hernán Eiroa ; María Inés Otegui...
http://www.sciencedirect.com/science/article/pii/S2214426920301415. , 2020

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

13

Su1129 H. pylori Second-Line Rescue Therapy With Levofloxac..:

Gisbert, Javier P. ; Romano, Marco ; Gravina, Antonietta G....
Gastroenterology. 148 (2015) 4 - p. S-416 , 2015

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

14

Sex Differences in Long-Term Outcomes in Patients With Defe..:

Hoshino, Masahiro ; Hamaya, Rikuta ; Kanaji, Yoshihisa...
Publisher's version. , 2020

Link: https://hdl.handle.net/2..

15

Sex Differences in Long‐Term Outcomes in Patients With Defe..:

Hoshino, Masahiro ; Hamaya, Rikuta ; Kanaji, Yoshihisa...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7070212/. , 2020

Link: http://www.ncbi.nlm.nih...