Aki Mustonen : rechercher sur Z-Library

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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

Année:

1997

Langue:

english

Fichier:

PDF, 26 KB

english, 1997

2

MECP2 mutation analysis in patients with mental retardation

Tero Ylisaukko-oja, Karola Rehnström, Raija Vanhala, Elli Kempas, Harriet von Koskull, Carola Tengström, Aki Mustonen, Katrin Õunap, Jaana Lähdetie, Irma Järvelä

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 61 KB

english, 2005

3

Familial 6p22.2 duplication associates with mild developmental delay and increased SSADH activity

Linda Siggberg, Aki Mustonen, Robert Schuit, Gajja S. Salomons, Birthe Roos, K. Michael Gibson, Cornelis Jakobs, Jaakko Ignatius, Sakari Knuutila

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 473 KB

english, 2011

4

DNA-based prenatal diagnosis of the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1)

Irma Järvelä, Juhani Rapola, Leena Peltonen, Lea Puhakka, Jouni Vesa, Pirkko Ämmälä, Riitta Salonen, Markku Ryynänen, Pertti Haring, Aki Mustonen, Pirkko Santavuori

Journal:

Prenatal Diagnosis

Année:

1991

Langue:

english

Fichier:

PDF, 391 KB

english, 1991

5

Increase of HLA haplotype A9-Bw16 in familial insulin-dependent diabetes mellitus in Northern Finland

Jorma Ilonen, Hans K. Akerblom, Anja Tilikainen, Aki Mustonen, Elja Herva, Saija Koskimies, Kauko Kouvalainen

Journal:

Acta Diabetologica

Année:

1982

Langue:

english

Fichier:

PDF, 461 KB

english, 1982

6

Improved prenatal diagnosis of the congenital nephrotic syndrome of the Finnish type based on DNA analysis

Männikkö, Minna, Kestilä, Marjo, Lenkkeri, Ulla, Alakurtti, Heli, Holmberg, Christer, Leisti, Jaakko, Salonen, Riitta, Aula, Pertti, Mustonen, Aki, Peltonen, Leena

Journal:

Kidney International

Année:

1997

Langue:

english

Fichier:

PDF, 465 KB

english, 1997

7

Denaturing HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa

Patrizia Posteraro, Monica Pascucci, Marina Colombi, Sergio Barlati, Alberto Giannetti, Mauro Paradisi, Aki Mustonen, Giovanna Zambruno, Daniele Castiglia

Journal:

Biochemical and Biophysical Research Communications

Année:

2005

Langue:

english

Fichier:

PDF, 471 KB

english, 2005

8

Report of interstitial 22q13.1q13.2 microduplication in two siblings with distinctive dysmorphic features, heart defect and mental retardation

Rahikkala, Elisa, Forsström, Linda M., Kokkonen, Hannaleena, Knuutila, Sakari, Mustonen, Aki, Ignatius, Jaakko

Journal:

European Journal of Medical Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 1.81 MB

english, 2013

9

COMPLEMENT-FIXING ISLET-CELL ANTIBODIES BEFORE AND AFTER ONSET OF INSULIN-DEPENDENT DIABETES

Ilonen, Jorma, Mustonen, Aki, Akerblom, HansK., Huttunen, Niilo-Pekk

Journal:

Année:

1980

Langue:

english

Fichier:

PDF, 162 KB

english, 1980

10

Prenatal Diagnosis of Single Gene Disorders in Northern Finland

Leisti, Jaakko, Jouppila, Pentti, Mustonen, Aki, Kähkönen, Marketta, Herva, Riitta, Ruokonen, Aimo, Kirkinen, Pertti

Journal:

Annals of Medicine

Année:

1990

Langue:

english

Fichier:

PDF, 1.61 MB

english, 1990

11

Is There Bacteremia after Suprapubic Aspiration in Children with Urinary Tract Infection?

Mustonen, Aki, Uhari, Matti

Journal:

The Journal of Urology

Année:

1978

Langue:

english

Fichier:

PDF, 52 KB

english, 1978

12

Rab23 deficient mice exhibit lambdoid suture craniosynostosis through aberrant Fgf signaling

Hasan, Rakibul, Takatalo, Maarit, Ma, Hongqiang, Kallonen, Aki, Mustonen, Tuija, Hämäläinen, Keijo, Rice, David P.C.

Journal:

Mechanisms of Development

Année:

2017

Langue:

english

Fichier:

PDF, 54 KB

english, 2017

13

Primary Spontaneous Pneumothorax in Two Siblings Suggests Autosomal Recessive Inheritance

Koivisto, Pasi A., Mustonen, Aki

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 186 KB

english, 2001

14

Potential Novel Mechanism for Axenfeld-Rieger Syndrome: Deletion of a Distant Region Containing Regulatory Elements of PITX2

Volkmann, Bethany A., Zinkevich, Natalya S., Mustonen, Aki, Schilter, Kala F., Bosenko, Dmitry V., Reis, Linda M., Broeckel, Ulrich, Link, Brian A., Semina, Elena V.

Journal:

Investigative Ophthalmology & Visual Science

Année:

2011

Langue:

english

Fichier:

PDF, 2.56 MB

english, 2011

15

The validity of hospital discharge register data on non-ST-elevation and ST-elevation myocardial infarction in Finland

Okkonen, Marjo, Havulinna, Aki S., Ukkola, Olavi, Huikuri, Heikki, Ketonen, Matti, Kesäniemi, Y. Antero, Mustonen, Juha, Airaksinen, Juhani, Salomaa, Veikko

Journal:

Scandinavian Cardiovascular Journal

Année:

2019

Langue:

english

Fichier:

PDF, 1.36 MB

english, 2019