Sirpa Ala-Mello

Sirpa Ala-Mello

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Sirpa Ala-Mello

Sirpa Ala-Mello

Publications by authors named "Sirpa Ala-Mello"

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19Publications

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Erratum to: High-resolution SNP array analysis of patients with developmental disorder and normal array CGH result.

BMC Med Genet 2014 Nov 18;15:124. Epub 2014 Nov 18.

Department of Pathology, Haartman Institute, University of Helsinki, and Laboratory of Helsinki and Uusimaa University Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1186/s12881-014-0124-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4429685PMC
November 2014

Epilepsy caused by CDKL5 mutations.

Eur J Paediatr Neurol 2011 Jan 20;15(1):65-9. Epub 2010 May 20.

Rinnekoti Foundation, Rinnekodintie 10, FIN-02980 Espoo, Finland.

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http://dx.doi.org/10.1016/j.ejpn.2010.04.005DOI Listing
January 2011

Chromosomal abnormalities in Finnish orofacial cleft patients: excess of submucous cleft patients?

Cleft Palate Craniofac J 2010 Jul;47(4):352-8

Cleft and Craniofacial Centre, Department of Plastic Surgery, Helsinki University Central Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1597/09-198.1DOI Listing
July 2010

Array CGH in molecular diagnosis of mental retardation - A study of 150 Finnish patients.

Am J Med Genet A 2010 Jun;152A(6):1398-410

Department of Pathology, Haartman Institute, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1002/ajmg.a.33402DOI Listing
June 2010

[Microtia--not just an ear problem].

Duodecim 2009 ;125(9):975-82

HYKS:n korvaklinikka, HUS.

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July 2009

Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly.

Am J Med Genet A 2008 Oct;146A(19):2490-4

Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1002/ajmg.a.32479DOI Listing
October 2008

Inheritance of microtia in the Finnish population.

Int J Pediatr Otorhinolaryngol 2007 Nov 14;71(11):1783-8. Epub 2007 Sep 14.

Department of Otorhinolaryngology, Kymenlaakso Central Hospital, Kotkantie 41, 48210 Kotka, Finland.

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http://dx.doi.org/10.1016/j.ijporl.2007.08.002DOI Listing
November 2007

Microtia in Finland: comparison of characteristics in different populations.

Int J Pediatr Otorhinolaryngol 2007 Aug 4;71(8):1211-7. Epub 2007 Jun 4.

Department of Otorhinolaryngology, Kymenlaakso Central Hospital, Kotka, Finland.

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http://dx.doi.org/10.1016/j.ijporl.2007.04.020DOI Listing
August 2007

The first Finnish patient with the Floating-Harbor syndrome: the follow-up of eight years.

Am J Med Genet A 2004 Oct;130A(3):317-9

Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland.

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http://doi.wiley.com/10.1002/ajmg.a.30303
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http://dx.doi.org/10.1002/ajmg.a.30303DOI Listing
October 2004

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.

Hum Mutat 2003 Jun;21(6):615-21

Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB), Born-Bunge Foundation, University of Antwerp (UIA), Antwerpen, Belgium.

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http://dx.doi.org/10.1002/humu.10217DOI Listing
June 2003