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1
P82 Estimating the prevalence of Wilson’s disease using routine laboratory and clinical data
P82 Estimating the prevalence of Wilson’s disease using routine laboratory and clinical data
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P82 Estimating the prevalence of Wilson’s disease using routine laboratory and clinical data

Wijayasiri, Pramudi ; Hayre, J ; Nicholson, Ed S ; Kaye, Philip ; Venkatachalapathy, Suresh V ; Eddowes, Peter J ; Wilkes, Emilie ; Guha, Indra N ; James, Martin ; Ryder, Stephen D ; Aithal, Guru P ; Pearce, Fiona ; Aravinthan, Aloysious D

Gut, 2020-09, Vol.69 (Suppl 1), p.A46-A46 [Periódico revisado por pares]

London: BMJ Publishing Group LTD

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2
Haplotypes linked to the X chromosome in paternity investigation in incomplete cases
Haplotypes linked to the X chromosome in paternity investigation in incomplete cases
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Haplotypes linked to the X chromosome in paternity investigation in incomplete cases

I. C. D. Alcarás Aguinaldo Luiz Simões; Brazilian-International Congress of Genetics (62. 2016 Caxambu)

Abstracts Caxambu : SBG, 2016

Caxambu SBG 2016

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 2875788 Estantes Deslizantes )(Acessar)

3
P24 A genome-wide association study of non-alcoholic fatty liver disease in India: is there divergence in the genetic risk profile?
P24 A genome-wide association study of non-alcoholic fatty liver disease in India: is there divergence in the genetic risk profile?
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P24 A genome-wide association study of non-alcoholic fatty liver disease in India: is there divergence in the genetic risk profile?

Doshi, Mr Niraj ; Chalmers, J ; Mehta, G ; Leena, K ; Astbury, S ; Grove, J ; McQuillin, A ; Morgan, M ; Shenoy, K ; Aithal, G

Gut, 2020-09, Vol.69 (Suppl 1), p.A19-A19 [Periódico revisado por pares]

London: BMJ Publishing Group LTD

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4
Genetics of population isolates communities founded by Azoreans in the Santa Catarina Island, Southern Brazil
Genetics of population isolates communities founded by Azoreans in the Santa Catarina Island, Southern Brazil
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Genetics of population isolates communities founded by Azoreans in the Santa Catarina Island, Southern Brazil

Yara Costa Netto Muniz M. R Luizon; S. R. R Torres; T Moretti; T. S Sauerbier; C. C Coêlho; T Farias; A. M. T Moraes; A. F. S Latorre; L. K Fernandes; I. R. de Souza; Aguinaldo Luiz Simões; Genomics of Common Diseases (2007 Hinxton)

Abstracts Hinxton, 2007

Hinxton 2007

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 1638933 ) e outros locais(Acessar)

5
Association of SNPs with index body mass in a mixed urban population a case-control study
Association of SNPs with index body mass in a mixed urban population a case-control study
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Association of SNPs with index body mass in a mixed urban population a case-control study

D. O Ribeiro I. G Diniz; Wilson Araújo da Silva Júnior; J. F Guerreiro; Brazilian International Congress of Genetics - Genética 2017 (63. 2017 Águas de Lindóia)

Abstracts Águas de Lindóia : SBG, 2017

Águas de Lindóia SBG 2017

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 2918607 Estantes Deslizantes ) e outros locais(Acessar)

6
155 Clinical, immunological and genetic findings in 22 patients with combined immunodeficiency treated in a specialized center in Croatia
155 Clinical, immunological and genetic findings in 22 patients with combined immunodeficiency treated in a specialized center in Croatia
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155 Clinical, immunological and genetic findings in 22 patients with combined immunodeficiency treated in a specialized center in Croatia

Cigrovski, Nevenka ; Richter, Darko ; Tješić-Drinković, Dorian ; Bambir, Ivan ; Batinić, Drago ; Babić, Antonija ; Kurić, Lejla ; Bojanić, Ines ; Grubić, Zorana ; Tešović, Goran ; Vrdoljak, Maja ; Kelečić, Jadranka

Archives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A66-A66 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health

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7
O7 Exploring genetic variation of PDCD1, which encodes T-cell receptor PD-1, in patients with non-alcoholic fatty liver disease (NAFLD) and hepatocellular carcinoma (HCC)
O7 Exploring genetic variation of PDCD1, which encodes T-cell receptor PD-1, in patients with non-alcoholic fatty liver disease (NAFLD) and hepatocellular carcinoma (HCC)
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O7 Exploring genetic variation of PDCD1, which encodes T-cell receptor PD-1, in patients with non-alcoholic fatty liver disease (NAFLD) and hepatocellular carcinoma (HCC)

Darlay, Rebecca ; Eldafashi, Nardeen ; McStraw, Nikki Martina ; Cordell, Heather ; Watson, Robyn ; McCain, Misti Vanette ; Mauricio-Muir, Joao ; Shukla, Ruchi ; Dufour, Jean-Francois ; Valenti, Luca ; Anstee, Quentin ; Reeves, Helen

Gut, 2020-09, Vol.69 (Suppl 1), p.A4-A4 [Periódico revisado por pares]

London: BMJ Publishing Group LTD

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8
966 Genetic variations causing neonatal diabetes mellitus
966 Genetic variations causing neonatal diabetes mellitus
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966 Genetic variations causing neonatal diabetes mellitus

Elemam, Hazem Helmy ; Allman, Anneli ; Hawkes, Davida

Archives of disease in childhood, 2021-10, Vol.106 (Suppl 1), p.A177-A178 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health

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9
423 Genetic predictors of a new form of bronchopulmonary dysplasia
423 Genetic predictors of a new form of bronchopulmonary dysplasia
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423 Genetic predictors of a new form of bronchopulmonary dysplasia

Bondar, VA ; Davydova, IV ; Basargina, MA ; Savostyanov, KV ; Pushkov, AA ; Zhanin, IS ; Nikitin, AG

Archives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A176-A177 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health

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10
94 Clinical and Genetic Spectrum of Dystroglycanopathy Due to POMGNT1 Mutations in Russian Patients
94 Clinical and Genetic Spectrum of Dystroglycanopathy Due to POMGNT1 Mutations in Russian Patients
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94 Clinical and Genetic Spectrum of Dystroglycanopathy Due to POMGNT1 Mutations in Russian Patients

Kondakova, OB ; Savostyanov, KV ; Kazakova, KA ; Pushkov, AA ; Lyalina, AA ; Davidova, YI ; Kuprianova, OS ; Grebenkin, DI

Archives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A39-A40 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health

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Deste Autor:

  1. Simões, A
  2. Mendes Júnior, C
  3. Massaro, J
  4. Donadi, E
  5. Fracasso, N

Neste Assunto:

  1. Abstracts
  2. Pediatrics
  3. Patients
  4. Children
  5. Mutation

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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