Publications by authors named "Helen Puusepp"

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A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia.
Katrin Männik, Sven Parkel, Priit Palta, Olga Zilina, Helen Puusepp

Eur J Med Genet· August 2011

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Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.
Cheryl Shoubridge, Patrick S Tarpey, Fatima Abidi, Sarah L Ramsden, Sinitdhorn Rujirabanjerd, Helen Puusepp

Nat Genet· June 2010

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5.9 Mb microdeletion in chromosome band 17q22-q23.2 associated with tracheo-esophageal fistula and conductive hearing loss.
Helen Puusepp, Olga Zilina, Rita Teek, Katrin Männik, Sven Parkel

Eur J Med Genet· April 2009

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Prevalence of the fragile X syndrome among Estonian mentally retarded and the entire children's population.
Helen Puusepp, Tiina Kahre, Hiljar Sibul, Viljo Soo, Ilona Lind

J Child Neurol· December 2008

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Array-MAPH: a methodology for the detection of locus copy-number changes in complex genomes.
Ludmila Kousoulidou, Katrin Männik, Carolina Sismani, Olga Zilina, Sven Parkel, Helen Puusepp

Nat Protoc· August 2008

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Girl with partial Turner syndrome and absence epilepsy.
Helen Puusepp, Riina Zordania, Mare Paal, Oliver Bartsch, Katrin Ounap

Pediatr Neurol· April 2008

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Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH.
Ludmila Kousoulidou, Sven Parkel, Olga Zilina, Priit Palta, Helen Puusepp

Eur J Med Genet· March 2008

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Detection of small genomic imbalances using microarray-based multiplex amplifiable probe hybridization.
Philippos C Patsalis, Ludmila Kousoulidou, Katrin Männik, Carolina Sismani, Olga Zilina, Helen Puusepp

Eur J Hum Genet· February 2007

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