Detalhe da pesquisa
1.
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Am J Hum Genet
; 107(3): 499-513, 2020 09 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32721402
2.
Usefulness of a Telemedicine Tool TELEA in the Management of the COVID-19 Pandemic.
Telemed J E Health
; 26(11): 1332-1335, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32501747
3.
Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5.
J Bone Miner Metab
; 34(5): 599-603, 2016 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-26275437
4.
Biallelic ELMO3 mutations and loss of function for DOCK-mediated RAC1 activation result in intellectual disability.
Small GTPases
; 13(1): 48-55, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33660564
5.
Evaluation of a patient-centered integrated care program for individuals with frequent hospital readmissions and multimorbidity.
Intern Emerg Med
; 17(3): 789-797, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34714486
6.
Bi-Allelic c.1746G>T; p.Leu582= Variants in TUBGCP4 in a Boy with Autism: Clinical Data and Literature Review.
Mol Syndromol
; 13(2): 165-170, 2022 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-35418825
7.
Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X-linked ocular albinism.
Clin Exp Ophthalmol
; 38(5): 489-95, 2010 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-20649618
8.
[Holt-Oram syndrome: study of 7 cases]. / Síndrome de Holt-Oram: descripción de 7 casos.
Med Clin (Barc)
; 135(14): 653-7, 2010 Nov 13.
Artigo
Espanhol
| MEDLINE | ID: mdl-21070912
9.
ANO3 and early-onset dyskinetic encephalopathy.
Eur J Med Genet
; 63(12): 104085, 2020 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-33045406
10.
Broadening our understanding by the use of molecular cytogenetic techniques: full monosomy 21.
J Assist Reprod Genet
; 28(7): 621-6, 2011 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-21573680
11.
Clinical, genetics and bioinformatics characterization of a campomelic dysplasia case report.
Gene
; 577(2): 289-92, 2016 Feb 15.
Artigo
Inglês
| MEDLINE | ID: mdl-26631621
12.
Pilot study of a preventive multicomponent nurse intervention to reduce the incidence and severity of delirium in hospitalized older adults: MID-Nurse-P.
Maturitas
; 86: 86-94, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26921934
13.
Novel human pathological mutations. Gene symbol: OA1. Disease: albinism, ocular.
Hum Genet
; 125(3): 349, 2009 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-19320034
14.
Increasing the complexity: new genes and new types of albinism.
Pigment Cell Melanoma Res
; 27(1): 11-8, 2014 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-24066960
15.
Albinism in Europe.
J Dermatol
; 40(5): 319-24, 2013 May.
Artigo
Inglês
| MEDLINE | ID: mdl-23668539
16.
Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings.
Gene
; 499(1): 223-5, 2012 May 10.
Artigo
Inglês
| MEDLINE | ID: mdl-22406498
17.
[Oculodentodigital dysplasia: genetic counselling, reproductive expectatives and molecular assay of a clinical case referred to preimplantational diagnosis]. / Displasia oculodentodigital: consejo genético, opciones reproductivas y estudio molecular de un caso clínico referido para diagnóstico preimplantacional.
Med Clin (Barc)
; 138(13): 592-3, 2012 May 12.
Artigo
Espanhol
| MEDLINE | ID: mdl-22024562
18.
Displasia oculodentodigital: consejo genético, opciones reproductivas y estudio molecular de un caso clínico referido para diagnóstico preimplantacional / Oculodentodigital dysplasia: genetic counselling, reproductive expectatives and molecular assay of a clinical case referred to preimplantational diagnosis
Med. clín (Ed. impr.)
; 138(13): 592-593, mayo 2012.
Artigo
Espanhol
| IBECS (Espanha) | ID: ibc-100007
19.
Síndrome de Holt-Oram: descripción de 7 casos / Holt-Oram syndrome: Study of 7 cases
Med. clín (Ed. impr.)
; 135(14): 653-657, nov. 2010. tab, ilus
Artigo
Espanhol
| IBECS (Espanha) | ID: ibc-83693
20.
Interés de la flor de hibisco en problemas cardiovasculares / Interest of Hibiscus sabdariffa on cardiovascular diseases
Rev. fitoter
; 9(1): 25-33, 2009.
Artigo
Espanhol
| IBECS (Espanha) | ID: ibc-73799