Penttinen, Maila: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

1

Ring Chromosome 20 Mosaicism in a Girl with Complex Partial Seizures

Irma Holopainen, Maila Penttinen, Taina Lakkata, Tuula Ä ärimaa

Journal:

Developmental Medicine & Child Neurology

Year:

1994

Language:

english

File:

PDF, 358 KB

english, 1994

2

Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy

Vesa Juvonen, Eeva Nikoskelainen, Tarja Lamminen, Maila Penttinen, Pertti Aula, Marja-Liisa Savontaus

Journal:

Year:

1997

Language:

english

File:

PDF, 164 KB

english, 1997

3

Dissecting the epidemiology of a trinucleotide repeat disease – example of FRDA in Finland

Vesa Juvonen, Satu-Maria Kulmala, Jaakko Ignatius, Maila Penttinen, Marja-Liisa Savontaus

Journal:

Year:

2002

Language:

english

File:

PDF, 50 KB

english, 2002

4

Terminal 3p deletions in two families—Correlation between molecular karyotype and phenotype

Pia Pohjola, Nicole de Leeuw, Maila Penttinen, Helena Kääriäinen

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 145 KB

english, 2010

5

Structural and functional changes in peripheral vasculature of Fabry patients

Riikka J. Kalliokoski, Kari K. Kalliokoski, Maila Penttinen, Ilkka Kantola, Aila Leino, Jorma S. Viikari, Olli Simell, Pirjo Nuutila, Olli T. Raitakari

Journal:

Journal of Inherited Metabolic Disease

Year:

2006

Language:

english

File:

PDF, 271 KB

english, 2006

6

Translation of a Research-Based Genetic Test on a Rare Syndrome into Clinical Service Testing, with Sotos Syndrome As an Example

Pohjola, Pia, Peippo, Maarit, Penttinen, Maila T., Elenius, Klaus, Kääriäinen, Helena

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2012

Language:

english

File:

PDF, 128 KB

english, 2012

7

A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features

Vuorela, Pia E., Penttinen, Maila T., Hietala, Marja H., Laine, Jukka O., Huoponen, Kirsi A., Kääriäinen, Helena A.

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 140 KB

english, 2008

8

The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia

Kati Pääkkönen, Stefano Cambiaghi, Giuseppe Novelli, Lizbeth V. Ouzts, Maila Penttinen, Juha Kere, Anand K. Srivastava

Journal:

Year:

2001

Language:

english

File:

PDF, 84 KB

english, 2001

9

Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions

Vuorela, Pia, Ala-Mello, Sirpa, Saloranta, Carola, Penttinen, Maila, Pöyhönen, Minna, Huoponen, Kirsi, Borozdin, Wiktor, Bausch, Birke, Botzenhart, Elke M, Wilhelm, Christian, Kääriäinen, Helena, Kohl

Journal:

Genetics in Medicine

Year:

2007

Language:

english

File:

PDF, 170 KB

english, 2007

10

New progeroid disorder

Penttinen, Maila, Niemi, Kirsti-Maria, Vinkka-Puhakka, Heli, Johansson, Reijo, Aula, Pertti

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 1.35 MB

english, 1997

11

Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion

Vesa Juvonen, Marja Hietala, Markku Päivärinta, Maria Rantamäki, Lauri Hakamies, Seppo Kaakkola, Outi Vierimaa, Maila Penttinen, Marja-Liisa Savontaus

Journal:

Annals of Neurology

Year:

2000

Language:

english

File:

PDF, 352 KB

english, 2000

12

Detection of the founder effect in Finnish CADASIL families

Mykkänen, Kati, Savontaus, Marja-Liisa, Juvonen, Vesa, Sistonen, Pertti, Tuisku, Seppo, Tuominen, Susanna, Penttinen, Maila, Lundkvist, Johan, Viitanen, Matti, Kalimo, Hannu

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 235 KB

english, 2004

13

Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCLFinnish; CLN5)

Juhani Rapola, Jaana Lähdetie, Juha Isosomppi, Päivi Helminen, Maila Penttinen, Irma Järvelä

Journal:

Prenatal Diagnosis

Year:

1999

Language:

english

File:

PDF, 216 KB

english, 1999

14

Neuropathic symptoms and findings in women with Fabry disease

Satu M. Laaksonen, Matias Röyttä, Satu K. Jääskeläinen, Ilkka Kantola, Maila Penttinen, Björn Falck

Journal:

Clinical Neurophysiology

Year:

2008

Language:

english

File:

PDF, 144 KB

english, 2008

15

Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities

Maila Penttinen, Hannele Koillinen, Harri Niinikoski, Outi Mäkitie, Marja Hietala

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 120 KB

english, 2009

16

Early ultrasound diagnosis of fetal intracranial tumors

Pertti Palo, Maila Penttinen, Hannu Kalimo

Journal:

Journal of Clinical Ultrasound

Year:

1994

Language:

english

File:

PDF, 599 KB

english, 1994

17

Molecular Analysis of Two Novel Missense Mutations in the GDF5 Proregion That Reduce Protein Activity and Are Associated with Brachydactyly Type C

Stange, Katja, Thieme, Tino, Hertel, Karen, Kuhfahl, Silke, Janecke, Andreas R., Piza-Katzer, Hildegunde, Penttinen, Maila, Hietala, Marja, Dathe, Katarina, Mundlos, Stefan, Schwarz, Elisabeth, Seeman

Journal:

Journal of Molecular Biology

Year:

2014

Language:

english

File:

PDF, 1.14 MB

english, 2014

18

Linkage to Xq28 in a family with nonspecific X-linked mental retardation

Ann-Marie Nordström, Maila Penttinen, Harriet Koskull

Journal:

Year:

1992

Language:

english

File:

PDF, 944 KB

english, 1992

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@z-lib.do

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски