E-LIB Suche - Ergebnisse für: Cruz Marino, Tania

1

A Systematic Analysis of the Clinical Outcome Associated wi..:

Nagyova, Emilia ; Hoorntje, Edgar T. ; te Rijdt, Wouter P....
Journal of Cardiovascular Translational Research. 16 (2023) 6 - p. 1276-1286 , 2023

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

2

Germline EGFR c.2527G > A (p.V843I) variant and familial lu..:

Alsaddah, Saba ; Papadakis, Andreas I. ; Wong, Nora...
Lung Cancer. 181 (2023) - p. 107247 , 2023

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

3

Portrait of autosomal recessive diseases in the French‐Cana..:

Cruz Marino, Tania ; Leblanc, Josianne ; Pratte, Annabelle...
American Journal of Medical Genetics Part A. 191 (2023) 5 - p. 1145-1163 , 2023

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

4

First glance at the molecular etiology of hearing loss in F..:

Cruz Marino, Tania ; Tardif, Jessica ; Leblanc, Josianne...
Human Genetics. , 2021

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

5

French-Canadian families from Saguenay-Lac-Saint-Jean: a ne..:

Cruz Marino, Tania ; Villeneuve, Hélène ; Leblanc, Josianne...
Endocrine. 75 (2021) 1 - p. 48-58 , 2021

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

6

Severe epidermolysis bullosa simplex phenotype caused by co..:

Bchetnia, Mbarka ; Allard, Jean‐Pascal ; Boucher‐Lafleur, Anne‐Marie...
Experimental Dermatology. 29 (2020) 10 - p. 961-969 , 2020

Link: https://doi.org/10.1111/..

7

P326: Cardiovascular features in adult individuals affected..:

Marino, Tania Cruz ; Leblanc, Josianne ; Pratte, Annabelle...
Genetics in Medicine Open. 2 (2024) - p. 101220 , 2024

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

8

Ethical Dilemmas in Genetic Testing: Examples from the Cuba..:

Mariño, Tania Cruz ; Armiñán, Rubén Reynaldo ; Cedeño, Humberto Jorge...
Journal of Genetic Counseling. 20 (2011) 3 - p. 241-248 , 2011

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

9

Subtle rapid eye movement sleep abnormalities in presymptom..:

Rodríguez-Labrada, Roberto ; Velázquez-Perez, Luis ; Ochoa, Nalia Canales...
Movement Disorders. 26 (2010) 2 - p. 347-350 , 2010

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

10

A Systematic Analysis of the Clinical Outcome Associated wi..:

Nagyova, Emilia ; Hoorntje, Edgar T ; Rijdt, Wouter P Te...
https://research.rug.nl/en/publications/87bc925c-89de-4946-8ea3-8169050b3ac8. , 2023

Link: https://hdl.handle.net/1..

11

A Systematic Analysis of the Clinical Outcome Associated wi..:

Nagyova, Emilia ; Hoorntje, Edgar T ; Rijdt, Wouter P.te...
https://vbn.aau.dk/da/publications/f03d67a0-3f42-4208-85db-29e9f69bb1d7. , 2023

Link: https://vbn.aau.dk/da/pu..

12

Benefits of Newborn Screening for Vitamin D-Dependant Ricke..:

Fortin, Carol-Ann ; Girard, Lysanne ; Bonenfant, Chloé...
Frontiers in Endocrinology. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

13

A Collaborative Model to Implement Flexible, Accessible and..:

Lapointe, Julie ; Dorval, Michel ; Chiquette, Jocelyne...
Cancers. 13 (2021) 11 - p. 2729 , 2021

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

14

Epidemiological, clinical, and molecular characterization o..:

González-Zaldívar, Yanetza ; Vázquez-Mojena, Yaimeé ; Laffita-Mesa, José M...
Cerebellum & Ataxias. 2 (2015) 1 - p. , 2015

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

15

SCA2 predictive testing in Cuba: challenging concepts and p..:

Cruz-Mariño, Tania ; Vázquez-Mojena, Yaimeé ; Velázquez-Pérez, Luis...
Journal of Community Genetics. 6 (2015) 3 - p. 265-273 , 2015

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