E-LIB Suche - Ergebnisse für: Galán, Enrique

1

Variability in Phelan-McDermid Syndrome in a Cohort of 210 ..:

Nevado, Julián ; García-Miñaúr, Sixto ; Palomares-Bralo, María...
Frontiers in Genetics. 13 (2022) - p. , 2022

2

Pitfalls of trio-based exome sequencing: imprinted genes an..:

Palomares-Bralo, María ; Vallespín, Elena ; del Pozo, Ángela...
Genetics in Medicine. 19 (2017) 11 - p. 1283-1285 , 2017

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

3

Adults with Sotos syndrome: Review of 21 adults with molecu..:

Fickie, Matthew R. ; Lapunzina, Pablo ; Gentile, Jennifer K....
American Journal of Medical Genetics Part A. 155 (2011) 9 - p. 2105-2111 , 2011

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

4

Decreased corneal opacity and improved vision in a patient ..:

Cáceres‐Marzal, Cristina ; García‐Reymundo, Mercedes ; Solana, Jorge...
American Journal of Medical Genetics Part A. 146A (2008) 13 - p. 1768-1770 , 2008

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

5

Mutation update of spinal muscular atrophy in Spain: molecu..:

Alías, Laura ; Bernal, Sara ; Fuentes-Prior, Pablo...
Human Genetics. 125 (2008) 1 - p. 29-39 , 2008

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

6

Postprandial triacylglycerol metabolism is modified by the ..:

Perez-Martinez, Pablo ; Yiannakouris, Nikos ; Lopez-Miranda, Jose...
The American Journal of Clinical Nutrition. 87 (2008) 3 - p. 744-752 , 2008

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

7

Array-CGH in patients with Kabuki-like phenotype: Identific..:

Cuscó, Ivon ; del Campo, Miguel ; Vilardell, Mireia...
BMC Medical Genetics. 9 (2008) 1 - p. , 2008

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

8

Early Mitochondrial Dysfunction in an Infant With Alexander..:

Cáceres-Marzal, Cristina ; Vaquerizo, Julián ; Galán, Enrique.
Pediatric Neurology. 35 (2006) 4 - p. 293-296 , 2006

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

9

Beckwith–Wiedemann syndrome due to 11p15.5 paternal duplica..:

Delicado, Alicia ; Lapunzina, Pablo ; Palomares, María...
European Journal of Medical Genetics. 48 (2005) 2 - p. 159-166 , 2005

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

10

New findings in craniofacial dyssynostosis:

Bermejo, Eva ; Lapunzina, Pablo ; Galán, Enrique...
American Journal of Medical Genetics Part A. 134A (2005) 3 - p. 344-345 , 2005

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

11

Craniofacial dyssynostosis: Description of the first four S..:

Bermejo, Eva ; Félix, Valentín ; Lapunzina, Pablo...
American Journal of Medical Genetics Part A. 132A (2004) 1 - p. 41-48 , 2004

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

12

Peripheral neuropathy in Ehlers-Danlos syndrome:

Galan, Enrique ; Kousseff, Boris G.
Pediatric Neurology. 12 (1995) 3 - p. 242-245 , 1995

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

13

Tracheoesophageal fistula, gastrointestinal abnormalities, ..:

Martínez‐Frías, María‐Luisa ; Frías, Jaime L. ; Galán, Enrique...
American Journal of Medical Genetics. 44 (1992) 3 - p. 352-355 , 1992

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

14

The Palgrave Handbook of Globalization with Chinese Charact..:

Duarte, Paulo Afonso B ; Leandro, Francisco José B. S ; Galán, Enrique Martínez - 1st ed. 2023 . , 2023

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

15

Introduction:

, In: The Palgrave Handbook of Globalization with Chinese Characteristics,

Duarte, Paulo Afonso B. ; Leandro, Francisco José ; Galán, Enrique Martínez - p. 1-14 , 2023

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