E-LIB Suche - Ergebnisse für: Sentchordi, Lucia

1

Mutations in C-natriuretic peptide (NPPC): a novel cause of..:

Hisado-Oliva, Alfonso ; Ruzafa-Martin, Alba ; Sentchordi, Lucia...
Genetics in Medicine. 20 (2018) 1 - p. 91-97 , 2018

2

Clinical Characterization of Patients With Autosomal Domina..:

Gkourogianni, Alexandra ; Andrew, Melissa ; Tyzinski, Leah...
The Journal of Clinical Endocrinology & Metabolism. 102 (2016) 2 - p. 460-469 , 2016

Link: https://doi.org/10.1210/..

3

SUN-LB80 Thyroglossal Duct Cyst Carcinoma in a 12 Year Old ..:

Sánchez, Amparo Rodríguez ; Rodríguez Arnao, Dolores ; de León, Esther González Ruiz...
Journal of the Endocrine Society. 4 (2020) Supplement_1 - p. , 2020

Link: https://doi.org/10.1210/..

4

Early severe scoliosis in a patient with atypical progressi..:

Montané, Lucia Sentchordi ; Marín, Oliver R. ; Rivera‐Pedroza, Carlos I....
American Journal of Medical Genetics Part A. 170 (2016) 6 - p. 1595-1599 , 2016

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

5

Clinical Characterization of Patients With Autosomal Domina..:

Gkourogianni, Alexandra ; Andrew, Melissa ; Tyzinski, Leah...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413162/. , 2016

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

6

Variants in both the N- or C-terminal domains of IHH lead t..:

Díaz-González, Francisca ; Sentchordi-Montané, Lucía ; Lucas Castro, Elsa..
European Journal of Endocrinology. , 2024

Link: https://doi.org/10.1093/..

7

Clinical and Molecular Description of 16 Families With Hete..:

Sentchordi-Montané, Lucía ; Benito-Sanz, Sara ; Aza-Carmona, Miriam...
The Journal of Clinical Endocrinology & Metabolism. 105 (2020) 8 - p. 2654-2666 , 2020

Link: https://doi.org/10.1210/..

8

Improvisation in times of pandemic, a reason for reflection:

Troya, Jesús ; Seijo, Luis Miguel ; Pérez, Mario..
International Journal of Infectious Diseases. 96 (2020) - p. 361-362 , 2020

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

9

IHH Gene Mutations Causing Short Stature With Nonspecific S..:

Vasques, Gabriela A ; Funari, Mariana F A ; Ferreira, Frederico M...
The Journal of Clinical Endocrinology & Metabolism. 103 (2017) 2 - p. 604-614 , 2017

Link: https://doi.org/10.1210/..

10

Caracterización clínica, radiológica y molecular de pacient..:

Sentchordi Montané, Lucía
http://hdl.handle.net/10486/703293. , 2022

Link: http://hdl.handle.net/10..

11

SUN-LB80 Thyroglossal Duct Cyst Carcinoma in a 12 Year Old ..:

Sitja, Marina Mora ; Montane, Lucía Sentchordi ; Fernández, María Sanz...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7209573/. , 2020

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

12

Identification of a Gypsy SHOX mutation (p.A170P) in Léri-W..:

Barca-Tierno, Verónica ; Aza-Carmona, Miriam ; Barroso, Eva...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3230364. , 2011

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

13

Heterozygous aggrecan variants are associated with short st..:

Sentchordi-Montané, Lucía ; Aza-Carmona, Miriam ; Benito-Sanz, Sara...
http://hdl.handle.net/10668/12159. , 2018

Link: http://hdl.handle.net/10..

14

Improvisation in times of pandemic, a reason for reflection:

Jesús Troya, MD PHD ; Luis Miguel Seijo, MD PHD ; Mario Pérez, MD..
http://www.sciencedirect.com/science/article/pii/S1201971220303453. , 2020

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