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Refinado por: Base de dados/Biblioteca: AUC Wiley Frozen Package in 2012 remover Nome da Publicação: Clinical Genetics remover
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1
Genetic aspects of Huntington's disease in Latin America. A systematic review
Genetic aspects of Huntington's disease in Latin America. A systematic review
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Genetic aspects of Huntington's disease in Latin America. A systematic review

Castilhos, R.M. ; Augustin, M.C. ; Santos, J.A. ; Perandones, C. ; Saraiva-Pereira, M.L. ; Jardim, L.B.

Clinical genetics, 2016-03, Vol.89 (3), p.295-303 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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2
Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia
Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia
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Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia

Fernandes-Lima, Z.S. ; Paixão-Côrtes, V.R. ; de Andrade, A.K.M. ; Fernandes, A.S. ; Coronado, B.N.L. ; Monte Filho, H.P. ; Santos, M.J. ; de Omena Filho, R.L. ; Biondi, F.C. ; Ruiz-Linares, A. ; Ramallo, V. ; Hünemeier, T. ; Schuler-Faccini, L. ; Monlleó, I.L.

Clinical genetics, 2015-01, Vol.87 (1), p.68-73 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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3
Effect of vitamin E on chromosomal aberrations in lymphocytes from patients with Down's syndrome
Effect of vitamin E on chromosomal aberrations in lymphocytes from patients with Down's syndrome
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Effect of vitamin E on chromosomal aberrations in lymphocytes from patients with Down's syndrome

Pincheira, J ; Navarrete, MH ; De La Torre, C ; Tapia, G ; Santos, MJ

Clinical genetics, 1999-03, Vol.55 (3), p.192-197 [Periódico revisado por pares]

Copenhagen: Munksgaard International Publishers

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4
G2 repair in Nijmegen breakage syndrome: G2 duration and effect of caffeine and cycloheximide in control and X-ray irradiated lymphocytes
G2 repair in Nijmegen breakage syndrome: G2 duration and effect of caffeine and cycloheximide in control and X-ray irradiated lymphocytes
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G2 repair in Nijmegen breakage syndrome: G2 duration and effect of caffeine and cycloheximide in control and X-ray irradiated lymphocytes

Pincheira, J. ; Bravo, M. ; Santos, M.J

Clinical genetics, 1998-04, Vol.53 (4), p.262-267 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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5
Spinocerebellar ataxia type 3/Machado-Joseph disease: segregation patterns and factors influencing instability of expanded CAG transmissions
Spinocerebellar ataxia type 3/Machado-Joseph disease: segregation patterns and factors influencing instability of expanded CAG transmissions
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Spinocerebellar ataxia type 3/Machado-Joseph disease: segregation patterns and factors influencing instability of expanded CAG transmissions

Souza, G.N. ; Kersting, N. ; Krum-Santos, A.C. ; Santos, A.S.P. ; Furtado, G.V. ; Pacheco, D. ; Gonçalves, T.A. ; Saute, J.A. ; Schuler-Faccini, L. ; Mattos, E.P. ; Saraiva-Pereira, M.L. ; Jardim, L.B.

Clinical genetics, 2016-08, Vol.90 (2), p.134-140 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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6
mTOR mutations in Smith‐Kingsmore syndrome: Four additional patients and a review
mTOR mutations in Smith‐Kingsmore syndrome: Four additional patients and a review
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mTOR mutations in Smith‐Kingsmore syndrome: Four additional patients and a review

Gordo, G. ; Tenorio, J. ; Arias, P. ; Santos‐Simarro, F. ; García‐Miñaur, S. ; Moreno, J.C. ; Nevado, J. ; Vallespin, E. ; Rodriguez‐Laguna, L. ; de Mena, R. ; Dapia, I. ; Palomares‐Bralo, M. ; del Pozo, Á. ; Ibañez, K. ; Silla, J.C. ; Barroso, E. ; Ruiz‐Pérez, V.L. ; Martinez‐Glez, V. ; Lapunzina, P.

Clinical genetics, 2018-04, Vol.93 (4), p.762-775 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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7
Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections
Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections
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Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections

Regalado, E.S. ; Guo, D.C. ; Santos-Cortez, R.L.P. ; Hostetler, E. ; Bensend, T.A. ; Pannu, H. ; Estrera, A. ; Safi, H. ; Mitchell, A.L. ; Evans, J.P. ; Leal, S.M. ; Bamshad, M. ; Shendure, J. ; Nickerson, D.A. ; Milewicz, D.M.

Clinical genetics, 2016-06, Vol.89 (6), p.719-723 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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8
Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families
Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families
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Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families

Lebeko, K. ; Sloan-Heggen, C. M. ; Noubiap, J. J. N. ; Dandara, C. ; Kolbe, D. L. ; Ephraim, S. S. ; Booth, K. T. ; Azaiez, H. ; Santos-Cortez, R. L. P. ; Leal, S. M. ; Smith, R. J. H. ; Wonkam, A.

Clinical genetics, 2016-09, Vol.90 (3), p.288-290 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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9
Familial clustering and genetic heterogeneity in Meniere's disease
Familial clustering and genetic heterogeneity in Meniere's disease
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Familial clustering and genetic heterogeneity in Meniere's disease

Requena, T. ; Espinosa-Sanchez, J.M. ; Cabrera, S. ; Trinidad, G. ; Soto-Varela, A. ; Santos-Perez, S. ; Teggi, R. ; Perez, P. ; Batuecas-Caletrio, A. ; Fraile, J. ; Aran, I. ; Martin, E. ; Benitez, J. ; Pérez-Fernández, N. ; Lopez-Escamez, J.A.

Clinical genetics, 2014-03, Vol.85 (3), p.245-252 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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10
MAGEL2‐related disorders: A study and case series
MAGEL2‐related disorders: A study and case series
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MAGEL2‐related disorders: A study and case series

Patak, Jameson ; Gilfert, James ; Byler, Melissa ; Neerukonda, Vamsee ; Thiffault, Isabelle ; Cross, Laura ; Amudhavalli, Shivarajan ; Pacio‐Miguez, Marta ; Palomares‐Bralo, Maria ; Garcia‐Minaur, Sixto ; Santos‐Simarro, Fernando ; Powis, Zoe ; Alcaraz, Wendy ; Tang, Sha ; Jurgens, Julie ; Barry, Brenda ; England, Eleina ; Engle, Elizabeth ; Hess, Jonathon ; Lebel, Robert R.

Clinical genetics, 2019-12, Vol.96 (6), p.493-505 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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