about
Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta.Simpson-Golabi-Behmel syndrome types I and II.PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature.In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype.mTOR mutations in Smith-Kingsmore syndrome: four additional patients and a review.Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years.Molecular Analysis of BMPR2, TBX4, and KCNK3 and Genotype-Phenotype Correlations in Spanish Patients and Families With Idiopathic and Hereditary Pulmonary Arterial Hypertension.[Overgrowth syndromes and development of embryonic tumours: A review of cases in the last 5 years].A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies.A new overgrowth syndrome is due to mutations in RNF125.Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adultsMRX93 syndrome (BRWD3 gene): five new patients with novel mutationsA novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creasesCharacterization of parent-of-origin methylation using the Illumina Infinium MethylationEPIC array platformHeterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/BFurther delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patientsPrediction models for voriconazole pharmacokinetics based on pharmacogenetics: AN exploratory study in a Spanish populationFurther definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor
P50
Q30541868-00C0C4B1-2A56-4566-BC3B-A431AAB4BB85Q34623852-E4C4CAF6-4C13-47BF-8843-DBD675FC62BBQ36695727-1D275E66-C047-4C90-ACCE-D57AD368E12FQ36902736-E359FF6B-C72E-4571-8915-63E85487B70FQ37620212-29918EE5-6C12-471D-A987-AA0324CDD0C0Q47394350-E9CB61E5-5B5B-4366-B101-9D8B5BAC75DBQ47823335-A49DA650-8740-4B91-90F5-E2670665CFD5Q48585125-86971665-706C-4B39-8DC3-375AD86A5F1BQ50225813-8EB9163A-6FD3-4DC4-AC5E-47B31E2C83A6Q50250457-56A7DA69-7BF4-4EE5-ADAB-C554FC8B98ECQ50455228-3191104E-4DBE-4512-B06E-505F636CE1F3Q50460844-A6F97364-4277-4F8F-9E26-8BCD37D8DC73Q52984051-8820B47F-D907-41EB-9778-27F70643B7A8Q53739961-CA7B1E06-985E-4FA0-99E0-327221FB42D7Q63314398-EC7606F7-2B36-4F1A-AC3E-0D51B10F5ABFQ64041501-88E4B120-5D50-4963-8271-11B352D093DEQ85576123-16E3587E-EEE0-48A8-BE2B-229AF48C8C1EQ89372058-D4C424C5-BF65-4B64-A69B-38A4BD3703F5Q90251462-F0FDAE5E-7E1E-48F0-BFC4-E51B9C3A7EF7Q91106554-385A8825-60C0-423E-BA29-8AF72066144EQ91677237-9C1BCFA9-270D-4BDE-B4C5-0594C916DC59Q92880375-0F3A6B26-7818-427A-B36D-96E972B36B41
P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Jair Tenorio
@ast
Jair Tenorio
@en
Jair Tenorio
@es
Jair Tenorio
@nl
Jair Tenorio
@sl
type
label
Jair Tenorio
@ast
Jair Tenorio
@en
Jair Tenorio
@es
Jair Tenorio
@nl
Jair Tenorio
@sl
prefLabel
Jair Tenorio
@ast
Jair Tenorio
@en
Jair Tenorio
@es
Jair Tenorio
@nl
Jair Tenorio
@sl
P106
P31
P496
0000-0002-5308-2316