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The Cuban program for predictive testing of SCA2: 11 years and 768 individuals to learn from
The Cuban program for predictive testing of SCA2: 11 years and 768 individuals to learn from
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The Cuban program for predictive testing of SCA2: 11 years and 768 individuals to learn from

Cruz-Mariño, T ; Velázquez-Pérez, L ; González-Zaldivar, Y ; Aguilera-Rodríguez, R ; Velázquez-Santos, M ; Vázquez-Mojena, Y ; Estupiñán-Rodríguez, A ; Laffita-Mesa, JM ; Reynaldo-Armiñán, R ; Almaguer-Mederos, LE ; Paneque, M

Clinical genetics, 2013-06, Vol.83 (6), p.518-524 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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2
Refining the phenotype of α-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly
Refining the phenotype of α-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly
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Refining the phenotype of α-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

Morris-Rosendahl, DJ ; Najm, J ; Lachmeijer, AMA ; Sztriha, L ; Martins, M ; Kuechler, A ; Haug, V ; Zeschnigk, C ; Martin, P ; Santos, M ; Vasconcelos, C ; Omran, H ; Kraus, U ; Van der Knaap, MS ; Schuierer, G ; Kutsche, K ; Uyanik, G

Clinical genetics, 2008-11, Vol.74 (5), p.425-433 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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3
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients
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LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients

Oliveira, J ; Santos, R ; Soares-Silva, I ; Jorge, P ; Vieira, E ; Oliveira, ME ; Moreira, A ; Coelho, T ; Ferreira, JC ; Fonseca, MJ ; Barbosa, C ; Prats, J ; Aríztegui, ML ; Martins, ML ; Moreno, T ; Heinimann, K ; Barbot, C ; Pascual-Pascual, SI ; Cabral, A ; Fineza, I ; Santos, M ; Bronze-da-Rocha, E

Clinical genetics, 2008-12, Vol.74 (6), p.502-512 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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4
Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly
Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly
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Artigo 		Adicionar ao Meu Espaço

Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

Morris-Rosendahl, D J ; Najm, J ; Lachmeijer, A M A ; Sztriha, L ; Martins, M ; Kuechler, A ; Haug, V ; Zeschnigk, C ; Martin, P ; Santos, M ; Vasconcelos, C ; Omran, H ; Kraus, U ; Van der Knaap, M S ; Schuierer, G ; Kutsche, K ; Uyanik, G

Clinical genetics, 2008-11, Vol.74 (5), p.425-433 [Periódico revisado por pares]

Denmark

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5
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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6
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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7
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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8
A further Angelman syndrome patient with UPD15 due to paternal meiosis II nondisjunction
A further Angelman syndrome patient with UPD15 due to paternal meiosis II nondisjunction
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A further Angelman syndrome patient with UPD15 due to paternal meiosis II nondisjunction

Fridman, Cintia ; Santos, Mara ; Ferrari, Íris ; Koiffmann, Célia P

Clinical genetics, 2000-01, Vol.57 (1), p.86-87 [Periódico revisado por pares]

Copenhagen: Munksgaard International Publishers

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9
TheCuban program for predictive testing of SCA2: 11years and 768 individuals to learn from
TheCuban program for predictive testing of SCA2: 11years and 768 individuals to learn from
Material Type:
Artigo 		Adicionar ao Meu Espaço

TheCuban program for predictive testing of SCA2: 11years and 768 individuals to learn from

Cruz-Mariño, T ; Velázquez-Pérez, L ; González-Zaldivar, Y ; Aguilera-Rodríguez, R ; Velázquez-Santos, M ; Vázquez-Mojena, Y ; Estupiñán-Rodríguez, A ; Laffita-Mesa, JM ; Reynaldo-Armiñán, R ; Almaguer-Mederos, LE ; Paneque, M

Clinical genetics, 2013-06, Vol.83 (6), p.518 [Periódico revisado por pares]

Malden: Blackwell Publishing Ltd

Texto completo disponível

Citações Citado por
10
Refining the phenotype of [alpha]-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly
Refining the phenotype of [alpha]-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly
Material Type:
Artigo 		Adicionar ao Meu Espaço

Refining the phenotype of [alpha]-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

Morris-Rosendahl, DJ ; Najm, J ; Lachmeijer, AMA ; Sztriha, L ; Martins, M ; Kuechler, A ; Haug, V ; Zeschnigk, C ; Martin, P ; Santos, M ; Vasconcelos, C ; Omran, H ; Kraus, U ; Van der Knaap, MS ; Schuierer, G ; Kutsche, K ; Uyanik, G

Clinical genetics, 2008-11, Vol.74 (5), p.425-433 [Periódico revisado por pares]

Malden: Blackwell Publishing Ltd

Texto completo disponível

Citações Citado por
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