Suchergebnisse - "Pérez-Jurado, Luis A"

PubPharm (176)

71

Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy

enthalten in: NPJ genomic medicine | 2018

von Corbett, M. | van Eyk, C. | Webber, D. | +11

ErratumIn: NPJ Genom Med. 2019 May 31;4:11. - PMID 31231543

72

rhIGF-1 Treatment Increases Bone Mineral Density and Trabecular Bone Structure in Children with PAPP-A2 Deficiency

enthalten in: Hormone research in paediatrics | 2018

von Hawkins-Carranza, F. | Muñoz-Calvo, M. | Martos-Moreno, G. | +6

73

Epigallocatechin-3-gallate improves cardiac hypertrophy and short-term memory deficits in a Williams-Beuren syndrome mouse model

enthalten in: PloS one | 2018

von Ortiz-Romero, P. | Borralleras, C. | Bosch-Morató, M. | +5

74

Response to growth hormone in patients with RNPC3 mutations

enthalten in: EMBO Molecular Medicine | 2018

von Martos‐Moreno, G. | Travieso‐Suárez, L. | Pozo‐Román, J. | +6

75

Provision of Genetic Services for Autism and its Impact on Spanish Families

enthalten in: Journal of autism and developmental disorders | 2017

von Codina-Solà, M. | Pérez-Jurado, L. | Cuscó, I. | +1

76

Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements

enthalten in: American journal of human genetics | 2017

von Demaerel, W. | Hestand, M. | Vergaelen, E. | +89

RetractionIn: Am J Hum Genet. 2018 Sep 6;103(3):457. - PMID 30193139

77

One level up : abnormal proteolytic regulation of IGF activity plays a role in human pathophysiology

enthalten in: EMBO molecular medicine | 2017

von Argente, J. | Chowen, J. | Pérez-Jurado, L. | +2

78

Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants

enthalten in: PLoS genetics | 2017

von Serra-Juhé, C. | Martos-Moreno, G. | Bou de Pieri, F. | +5

79

Behavioral Profiles of Children With Williams Syndrome From Spain and the United States : Cross-Cultural Similarities and Differences

enthalten in: American journal on intellectual and developmental disabilities | 2017

von Pérez-García, D. | Brun-Gasca, C. | Pérez-Jurado, L. | +1

80

Treatment With Recombinant Human Insulin-Like Growth Factor-1 Improves Growth in Patients With PAPP-A2 Deficiency

enthalten in: The Journal of clinical endocrinology and metabolism | 2016

von Muñoz-Calvo, M. | Barrios, V. | Pozo, J. | +11