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Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number
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Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

Thompson, Kyle ; Majd, Homa ; Dallabona, Cristina ; Reinson, Karit ; King, Martin S. ; Alston, Charlotte L. ; He, Langping ; Lodi, Tiziana ; Jones, Simon A. ; Fattal-Valevski, Aviva ; Fraenkel, Nitay D. ; Saada, Ann ; Haham, Alon ; Isohanni, Pirjo ; Vara, Roshni ; Barbosa, Inês A. ; Simpson, Michael A. ; Deshpande, Charu ; Puusepp, Sanna ; Bonnen, Penelope E. ; Rodenburg, Richard J. ; Suomalainen, Anu ; Õunap, Katrin ; Elpeleg, Orly ; Ferrero, Ileana ; McFarland, Robert ; Kunji, Edmund R.S. ; Taylor, Robert W.

American journal of human genetics, 2016-10, Vol.99 (4), p.860-876 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults
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Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

Charif, Majida ; Nasca, Alessia ; Thompson, Kyle ; Gerber, Sylvie ; Makowski, Christine ; Mazaheri, Neda ; Bris, Céline ; Goudenège, David ; Legati, Andrea ; Maroofian, Reza ; Shariati, Gholamreza ; Lamantea, Eleonora ; Hopton, Sila ; Ardissone, Anna ; Moroni, Isabella ; Giannotta, Melania ; Siegel, Corinna ; Strom, Tim M ; Prokisch, Holger ; Vignal-Clermont, Catherine ; Derrien, Sabine ; Zanlonghi, Xavier ; Kaplan, Josseline ; Hamel, Christian P ; Leruez, Stephanie ; Procaccio, Vincent ; Bonneau, Dominique ; Reynier, Pascal ; White, Frances E ; Hardy, Steven A ; Barbosa, Inês A ; Simpson, Michael A ; Vara, Roshni ; Perdomo Trujillo, Yaumara ; Galehdari, Hamind ; Deshpande, Charu ; Haack, Tobias B ; Rozet, Jean-Michel ; Taylor, Robert W ; Ghezzi, Daniele ; Amati-Bonneau, Patrizia ; Lenaers, Guy

JAMA neurology, 2018-01, Vol.75 (1), p.105-113 [Periódico revisado por pares]

United States: American Medical Association

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3
Parent and Patient Perceptions of Robotic vs Open Urological Surgery Scars in Children
Parent and Patient Perceptions of Robotic vs Open Urological Surgery Scars in Children
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Parent and Patient Perceptions of Robotic vs Open Urological Surgery Scars in Children

Barbosa, Joao A.B.A ; Barayan, Ghassan ; Gridley, Chad M ; Sanchez, Daniela C.J ; Passerotti, Carlo C ; Houck, Constance S ; Nguyen, Hiep T

The Journal of urology, 2013-07, Vol.190 (1), p.244-250 [Periódico revisado por pares]

New York, NY: Elsevier Inc

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4
Haplotypes and polymorphism in the CCR5 gene in sickle cell disease
Haplotypes and polymorphism in the CCR5 gene in sickle cell disease
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Haplotypes and polymorphism in the CCR5 gene in sickle cell disease

Nascimento, A F ; Oliveira, J S ; Silva Junior, J C ; Barbosa, A A L

Genetics and molecular research, 2017-06, Vol.16 (2), p.1 [Periódico revisado por pares]

Brazil: Fundacao de Pesquisas Cientificas de Ribeirao Preto

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5
From the Urinary Catheter to the Prevalence of Three Classes of Integrons, β-Lactamase Genes, and Differences in Antimicrobial Susceptibility of Proteus mirabilis and Clonal Relatedness with Rep-PCR
From the Urinary Catheter to the Prevalence of Three Classes of Integrons, β-Lactamase Genes, and Differences in Antimicrobial Susceptibility of Proteus mirabilis and Clonal Relatedness with Rep-PCR
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From the Urinary Catheter to the Prevalence of Three Classes of Integrons, β-Lactamase Genes, and Differences in Antimicrobial Susceptibility of Proteus mirabilis and Clonal Relatedness with Rep-PCR

Mirzaei, Arezoo ; Nasr Esfahani, Bahram ; Raz, Abbasali ; Ghanadian, Mustafa ; Moghim, Sharareh Barbosa, Joana ; Joana Barbosa

BioMed research international, 2021, Vol.2021, p.9952769-10 [Periódico revisado por pares]

United States: Hindawi

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6
Superior discriminating value of ACTH-stimulated serum 21-deoxycortisol in identifying heterozygote carriers for 21-hydroxylase deficiency
Superior discriminating value of ACTH-stimulated serum 21-deoxycortisol in identifying heterozygote carriers for 21-hydroxylase deficiency
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Superior discriminating value of ACTH-stimulated serum 21-deoxycortisol in identifying heterozygote carriers for 21-hydroxylase deficiency

Costa-Barbosa, Flávia A. ; Tonetto-Fernandes, Vânia F. ; Carvalho, Valdemir M. ; Nakamura, Odete H. ; Moura, Vivian ; Bachega, Tânia A. S. S. ; Vieira, José G. H. ; Kater, Claudio E.

Clinical endocrinology (Oxford), 2010-12, Vol.73 (6), p.700-706 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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7
Age-related changes in upper limb motion during typical development
Age-related changes in upper limb motion during typical development
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Age-related changes in upper limb motion during typical development

Simon-Martinez, Cristina ; Dos Santos, Gabriela Lopes ; Jaspers, Ellen ; Vanderschueren, Ruth ; Mailleux, Lisa ; Klingels, Katrijn ; Ortibus, Els ; Desloovere, Kaat ; Feys, Hilde Barbosa, Tiago M

PloS one, 2018-06, Vol.13 (6), p.e0198524-e0198524 [Periódico revisado por pares]

United States: Public Library of Science

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8
Prevalence and associated risk factors of Intestinal parasites in rural high-mountain communities of the Valle del Cauca-Colombia
Prevalence and associated risk factors of Intestinal parasites in rural high-mountain communities of the Valle del Cauca-Colombia
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Prevalence and associated risk factors of Intestinal parasites in rural high-mountain communities of the Valle del Cauca-Colombia

Peña-Quistial, Magda Gileydi ; Benavides-Montaño, Javier Antonio ; Duque, Nestor Javier Roncancio ; Benavides-Montaño, Gerardo Alejandro Barbosa, David Soeiro

PLoS neglected tropical diseases, 2020-10, Vol.14 (10), p.e0008734-e0008734 [Periódico revisado por pares]

United States: Public Library of Science

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9
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population
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LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

Oláhová, Monika ; Hardy, Steven A ; Hall, Julie ; Yarham, John W ; Haack, Tobias B ; Wilson, William C ; Alston, Charlotte L ; He, Langping ; Aznauryan, Erik ; Brown, Ruth M ; Brown, Garry K ; Morris, Andrew A M ; Mundy, Helen ; Broomfield, Alex ; Barbosa, Ines A ; Simpson, Michael A ; Deshpande, Charu ; Moeslinger, Dorothea ; Koch, Johannes ; Stettner, Georg M ; Bonnen, Penelope E ; Prokisch, Holger ; Lightowlers, Robert N ; McFarland, Robert ; Chrzanowska-Lightowlers, Zofia M A ; Taylor, Robert W

Brain (London, England : 1878), 2015-12, Vol.138 (Pt 12), p.3503-3519 [Periódico revisado por pares]

England: Oxford University Press

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10
Does celiac disease occur in Afro-derived Brazilian populations?
Does celiac disease occur in Afro-derived Brazilian populations?
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Does celiac disease occur in Afro-derived Brazilian populations?

Almeida, Rodrigo C. ; Gandolfi, Lenora ; De Nazaré Klautau-Guimarães, Maria ; Ferrari, Íris ; Sousa, Sandra M.B. ; Abe-Sandes, Kiyoko ; Barbosa, Ana A.L. ; Simões, Aguinaldo L. ; Pratesi, Riccardo ; Oliveira, Silviene F.

American journal of human biology, 2012-09, Vol.24 (5), p.710-712 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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