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1

Mutation analysis for prenatal diagnosis of hereditary tyrosinaemia type 1

Aki Mustonen, Hans Kristian Ploos Van Amstel, Ruud Berger, Matti K. Salo, Lasse Viinikka, Kalle O. J. Simola

Journal:

Prenatal Diagnosis

Year:

1997

Language:

english

File:

PDF, 26 KB

english, 1997

2

Pitt???Hopkins syndrome in two patients and further definition of the phenotype

Peippo, Maarit M., Simola, Kalle O.J., Valanne, Leena K., Larsen, Andreo T., K??hk??nen, Marketta, Auranen, Mari P., Ignatius, Jaakko

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 498 KB

english, 2006

3

Chromosome imbalances in familial gliomas detected by comparative genomic hybridization

Niina Paunu, Satu-Leena Sallinen, Ritva Karhu, Helena Miettinen, Pauli Sallinen, Juha Kononen, Pekka Laippala, Kalle O.J. Simola, Pauli Helén, Hannu Haapasalo

Journal:

Genes, Chromosomes and Cancer

Year:

2000

Language:

english

File:

PDF, 333 KB

english, 2000

4

A de novo deletion of chromosome 15(q15.2q21.2) in a dysmorphic, mentally retarded child with congenital scalp defect

Koivisto, Pasi A., Koivisto, Heli, Haapala, Kyllikki, Simola, Kalle O.J.

Journal:

Clinical Dysmorphology

Year:

1999

File:

PDF, 1.86 MB

1999

5

Analysis ofp53 Tumor Suppressor Gene in Families with Multiple Glioma Patients

Niina Paunu, Kirsi Syrjäkoski, Risto Sankila, Kalle O. J. Simola, Pauli Helén, Mika Niemelä, Mika Matikainen, Jorma Isola, Hannu Haapasalo

Journal:

Journal of Neuro-Oncology

Year:

2001

Language:

english

File:

PDF, 99 KB

english, 2001

6

Suggestive evidence for a new locus for epilepsy with heterogeneous phenotypes on chromosome 17q

Auli Sirén, Anne Polvi, Lyne Chahine, Malgorzata Labuda, Sarah Bourgoin, Anna-Kaisa Anttonen, Maria Kousi, Kari Hirvonen, Kalle O.J. Simola, Eva Andermann, Asta Laiho, Juhani Soini, Matti Koivikko, Re

Journal:

Epilepsy Research

Year:

2010

Language:

english

File:

PDF, 567 KB

english, 2010

7

Letter to the editor: Novel GJA1 mutation in oculodentodigital dysplasia

Jari Honkaniemi, Juha-Pekka Kalkkila, Pasi Koivisto, Veikko Kähärä, Terho Latvala, Kalle Simola

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 158 KB

english, 2005

8

Cancer incidence in families with multiple glioma patients

Niina Paunu, Eero Pukkala, Pekka Laippala, Risto Sankila, Jorma Isola, Helena Miettinen, Kalle O.J. Simola, Pauli Helén, Heikki Helin, Hannu Haapasalo

Journal:

International Journal of Cancer

Year:

2002

Language:

english

File:

PDF, 76 KB

english, 2002

9

Molecular cytogenetic study of patients with Pallister-Killian syndrome

Marcelo Larramendy, Mervi Heiskanen, Maija Wessman, Annukka Ritvanen, Päivi Peltomäki, Kalle Simola, Helena Kääriäinen, Harriet Koskull, Marketta Kähkönen, Sakari Knuutila

Journal:

Year:

1993

Language:

english

File:

PDF, 3.84 MB

english, 1993

10

HRAS1-Selected Chromosome Transfer Generates Markers that Colocalize Aniridia- and Genitourinary Dysplasia-Associated Translocation Breakpoints and the Wilms Tumor Gene within Band 11p13

David J. Porteous, Wendy Bickmore, Sheila Christie, Patricia A. Boyd, Gwen Cranston, Judy M. Fletcher, John R. Gosden, Derek Rout, Anne Seawright, Kalle O. J. Simola, Veronica Van Heyningen and Nichol

Journal:

Proceedings of the National Academy of Sciences

Year:

1987

Language:

english

File:

PDF, 1.04 MB

english, 1987

11

The 48,XXYY syndrome: A case detected by maternal serum alpha-fetoprotein screening

Reita H. Nyberg, Riitva Karhu, Riitta Karikoski, Kalle O. J. Simola

Journal:

Prenatal Diagnosis

Year:

1994

Language:

english

File:

PDF, 194 KB

english, 1994

12

Long-range restriction map around 11p13 aniridia locus

Lisa M. Davis, Andrew M. Everest, Kalle O. J. Simola, Thomas B. Shows

Journal:

Somatic Cell and Molecular Genetics

Year:

1989

Language:

english

File:

PDF, 1.80 MB

english, 1989

13

Incomplete prenatal diagnosis of G-trisomy mosaicism

Kalle Simola, Pertti Aula, Markku Ryynänen, Harriet von Koskull

Journal:

Clinical Genetics

Year:

1978

Language:

english

File:

PDF, 217 KB

english, 1978

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