E-LIB Suche - Ergebnisse für: Ramos-Arroyo, María A.

1

Somatic CAG repeat instability in intermediate alleles of t..:

Ruiz de Sabando, Ainara ; Ciosi, Marc ; Galbete, Arkaitz...
European Journal of Human Genetics. 32 (2024) 7 - p. 770-778 , 2024

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

2

SpanishHTTgene study reveals haplotype and allelic diversit..:

Ruiz de Sabando, Ainara ; Urrutia Lafuente, Edurne ; Galbete, Arkaitz...
Human Molecular Genetics. 32 (2022) 6 - p. 897-906 , 2022

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

3

Validation of diagnostic codes and epidemiologic trends of ..:

Vicente, Esther ; Ruiz de Sabando, Ainara ; García, Fermín...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

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

4

Author response: Clinical manifestations of homozygote alle..:

Ramos-Arroyo, Maria A. ; Cubo, Esther
Neurology. 94 (2020) 16 - p. 723-724 , 2020

Link: https://doi.org/10.1212/..

5

Genetic and clinical characterization of BRCA-associated he..:

Ruiz de Sabando, Ainara ; Urrutia Lafuente, Edurne ; García-Amigot, Fermín...
BMC Cancer. 19 (2019) 1 - p. , 2019

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

6

Correction to: Genetic and clinical characterization of BRC..:

de Sabando, Ainara Ruiz ; Lafuente, Edurne Urrutia ; García-Amigot, Fermín...
BMC Cancer. 19 (2019) 1 - p. , 2019

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

7

Clinical manifestations of homozygote allele carriers in Hu..:

Cubo, Esther ; Martinez-Horta, Saul-Indra ; Santalo, Frederic Sampedro...
Neurology. 92 (2019) 18 - p. , 2019

Link: https://doi.org/10.1212/..

8

Identification of causative variants in TXNL4A in Burn-McKe..:

Goos, Jacqueline A C ; Swagemakers, Sigrid M A ; Twigg, Stephen R F...
European Journal of Human Genetics. 25 (2017) 10 - p. 1126-1133 , 2017

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

9

The p. R151C Polymorphism in MC1R Gene Modifies the Age of ..:

Tell-Marti, Gemma ; Puig-Butille, Joan Anton ; Gimenez-Xavier, Pol...
Molecular Neurobiology. 54 (2016) 5 - p. 3906-3910 , 2016

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

10

Clinical manifestations of intermediate allele carriers in ..:

Cubo, Esther ; Ramos-Arroyo, María A. ; Martinez-Horta, Saul...
Neurology. 87 (2016) 6 - p. 571-578 , 2016

Link: https://doi.org/10.1212/..

11

A Comparative Phenotypic Study of Kallmann Syndrome Patient..:

Sarfati, Julie ; Guiochon-Mantel, Anne ; Rondard, Philippe...
The Journal of Clinical Endocrinology & Metabolism. 95 (2010) 2 - p. 659-669 , 2010

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

12

Genotype–phenotype analysis in patients with giant axonal n..:

Koop, Olga ; Schirmacher, Anja ; Nelis, Eva...
Neuromuscular Disorders. 17 (2007) 8 - p. 624-630 , 2007

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

13

Study of cerebral cavernous malformation in Spain and Portu..:

Ortiz, Lucía ; Costa, Alzenira F. ; Bellido, María L....
Journal of Neurology. 254 (2007) 3 - p. 322-326 , 2007

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

14

Heat-shock protein 70-1 and HLA class II gene polymorphisms..:

Ramos-Arroyo, Marı́a A ; Feijoó, Esperanza ; Sánchez-Valverde, Félix...
Human Immunology. 62 (2001) 8 - p. 821-825 , 2001

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

15

Familial choanal atresia with maxillary hypoplasia, prognat..:

Ramos-Arroyo, Maria A. ; Valiente, Alberto ; Rodriguez-Toral, Elias...
American Journal of Medical Genetics. 95 (2000) 3 - p. 237-240 , 2000

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