E-LIB Suche - Ergebnisse für: López, Fermina

1

Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: Three n..:

Rodríguez, Laura ; Guardia, Nieves Martínez ; Herens, Christian...
American Journal of Medical Genetics Part A. 122A (2003) 2 - p. 119-124 , 2003

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

2

Pure partial trisomy 7q: Two new patients and review:

Rodríguez, Laura ; López, Fermina ; Paisán, Luis...
American Journal of Medical Genetics. 113 (2002) 2 - p. 218-224 , 2002

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

3

Toward clinical and molecular dissection of frontonasal dys..:

Lehalle, Daphné ; Bruel, Ange‐Line ; Vitobello, Antonio...
American Journal of Medical Genetics Part A. 188 (2022) 7 - p. 2036-2047 , 2022

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

4

Marfan Syndrome and Loeys-Dietz Syndrome in Children: A Mul..:

Manchola-Linero, Alejandra ; Gran Ipiña, Ferran ; Teixidó-Tura, Gisela...
Revista Española de Cardiología (English Edition). 71 (2018) 7 - p. 585-587 , 2018

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

5

Terminal deletion of the chromosome 7(q36–qter) in an infan..:

Rodríguez, Laura ; Cuadrado Pérez, Irene ; Herrera Montes, Juana...
American Journal of Medical Genetics. 110 (2002) 1 - p. 73-77 , 2002

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

6

PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 1..:

Fernández-Caballero, Lidia ; Martín-Merida, Inmaculada ; Blanco-Kelly, Fiona...
International Journal of Molecular Sciences. 25 (2024) 5 - p. 2913 , 2024

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

7

Habitar (en) la pandemia: indagaciones etnográfico-proyectu..:

Álvarez Pedrosian, Eduardo ; Amado Mannise, María ; Bolaña Caballero, Natalia...
Labor e Engenho. 16 (2022) - p. e022001 , 2022

Link: https://doi.org/10.20396..

8

Attention Deficit Hyperactivity and Autism Spectrum Disorde..:

Sanchez-Jimeno, Carolina ; Blanco-Kelly, Fiona ; López-Grondona, Fermina...
Genes. 12 (2021) 9 - p. 1360 , 2021

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

9

Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Diso..:

Tenorio-Castaño, Jair ; Morte, Beatriz ; Nevado, Julián...
Genes. 12 (2021) 5 - p. 738 , 2021

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

10

Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic..:

Santos-Simarro, Fernando ; Pacio, Marta ; Cueto-González, Anna María...
European Journal of Medical Genetics. 64 (2021) 11 - p. 104338 , 2021

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

11

Further delineation of neuropsychiatric findings in Tatton-..:

Tenorio, Jair ; Alarcón, Pablo ; Arias, Pedro...
European Journal of Human Genetics. 28 (2019) 4 - p. 469-479 , 2019

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

12

Comparative genomic hybridisation as a first option in gene..:

Castells-Sarret, Neus ; Cueto-González, Anna M. ; Borregan, Mar...
Anales de Pediatría (English Edition). 89 (2018) 1 - p. 3-11 , 2018

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

13

Array CGH como primera opción en el diagnóstico genético: 1..:

Castells-Sarret, Neus ; Cueto-González, Anna M. ; Borregan, Mar...
Anales de Pediatría. 89 (2018) 1 - p. 3-11 , 2018

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

14

Women and water: a short reflection on laundry spaces in a ..:

Amoroso, Serafina ; Fermina Garrido López
Scienze del Territorio. 11 (2023) 1 - p. 76-87 , 2023

Link: https://doi.org/10.36253..

15

Distrofias Hereditarias de Retina en España: Tres décadas d..:

Perea-Romero, Irene ; Fernández Caballero, Lidia ; Iancu, Ionut F...
http://bibliotecavirtual.ranm.es/ranm/es/consulta/registro.do?id=101194. , 2022

Link: http://bibliotecavirtual..