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1 . Academic Journal
Eyes Shut Homolog-Associated Retinal Degeneration: Natural History, Genetic Landscape, and Phenotypic Spectrum
저자
by
Soares, Ricardo Machado
;
Carvalho, Ana Luísa
;
Simão, Sílvia
;
Soares, Célia Azevedo
;
Raimundo, Miguel
, et al.
소스
In
Ophthalmology Retina
February 2023
Full Text (ScienceDirect)
Scopus
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7 . Academic Journal
A new scale informed by the Reciprocal-Engagement Model for quality evaluation of genetic counselling by patients: Development and initial validation
저자
by
Paneque, Milena
;
Carvalho, Márcia
;
Rodrigues, Fidjy
;
Saraiva, Jorge
;
Leonardo, Alexandra
, et al.
소스
In
European Journal of Medical Genetics
December 2021 64(12)
Full Text (ScienceDirect)
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Scopus
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7 .
Pachydysostosis of the fibula in a case of familial adenomatous polyposis
저자
by
Oliveira, Daniela
;
Maia, Sofia
;
Balacó, Inês
;
Coelho, Paulo
;
Almeida, Susana
, et al.
소스
In
European Journal of Medical Genetics
April 2024 68
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7 . Academic Journal
Genetic profile of syndromic retinitis pigmentosa in Portugal
저자
by
Cortinhal, Telmo
;
Santos, Cristina
;
Vaz-Pereira, Sara
;
Marta, Ana
;
Duarte, Lilianne
, et al.
소스
Graefe's Archive for Clinical and Experimental Ophthalmology: Incorporating German Journal of Ophthalmology
. :1-15
Scopus
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7 . Academic Journal
High Hydrostatic Pressure in the Modulation of Enzymatic and Organocatalysis and Life under Pressure: A Review.
저자
by
Scepankova, Hana
;
Galante, Diogo
;
Espinoza-Suaréz, Edelman
;
Pinto, Carlos A.
;
Estevinho, Letícia M.
, et al.
소스
Molecules
. May2023, Vol. 28 Issue 10, p4172. 17p.
Scopus
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7 . Academic Journal
Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1 -Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort.
저자
by
Geada, Sara
;
Teixeira-Marques, Francisco
;
Teixeira, Bruno
;
Carvalho, Ana Luísa
;
Lousan, Nuno
, et al.
소스
Genes
. Apr2023, Vol. 14 Issue 4, p830. 11p.
Scopus
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7 . Academic Journal
Genetic spectrum, retinal phenotype, and peripapillary RNFL thickness in RPGR heterozygotes.
저자
by
Marques, João Pedro
;
Pinheiro, Rosa
;
Carvalho, Ana Luísa
;
Raimundo, Miguel
;
Soares, Mário
, et al.
소스
Graefe's Archive of Clinical & Experimental Ophthalmology
. Mar2023, Vol. 261 Issue 3, p867-878. 12p.
Scopus
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7 . Academic Journal
Unfolding of cardosin A in organic solvents and detection of intermediaries
저자
by
Sarmento, Ana Cristina
;
Oliveira, Cláudia S.
;
Pereira, Anabela
;
Esteves, Valdemar I.
;
Moir, Arthur J.G.
, et al.
소스
In
Journal of Molecular Catalysis. B, Enzymatic
2009 57(1):115-122
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7 . Academic Journal
Byssochlamys nivea inactivation in pineapple juice and nectar using high pressure cycles
저자
by
Ferreira, Elisa Helena da Rocha
;
Rosenthal, Amauri
;
Calado, Verônica
;
Saraiva, Jorge
;
Mendo, Sónia
.
소스
In
Journal of Food Engineering
2009 95(4):664-669
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7 . Academic Journal
Trisomy 18—when the diagnosis is compatible with life.
저자
by
Silva, Catarina
;
Ferreira, Mariana Cortez
;
Saraiva, Jorge
;
Cancelinha, Cândida
.
소스
European Journal of Pediatrics
(EUR J PEDIATR), Jul2022; 181(7): 2809-2819. (11p)
EBSCOHost PDF
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