|
🐜
|
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome
8 auth.
M. Kyttälä,
J. Tallila,
R. Salonen,
O. Kopra,
N. Kohlschmidt,
P. Paavola‐Sakki,
...
L. Peltonen,
M. Kestilä
|
7 |
2006 |
7
🐜
|
|
🐜
|
Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease
10 auth.
H. Nousiainen,
M. Kestilä,
Niklas Pakkasjärvi,
Heli Honkala,
S. Kuure,
J. Tallila,
...
K. Vuopala,
J. Ignatius,
R. Herva,
L. Peltonen
|
7 |
2008 |
7
🐜
|
|
🐜
|
Breast Cancer Patients with p53 Pro72 Homozygous Genotype Have a Poorer Survival
12 auth.
J. Tommiska,
H. Eerola,
Mira Heinonen,
Laura Salonen,
Milja Kaare,
J. Tallila,
...
A. Ristimäki,
K. von Smitten,
K. Aittomäki,
P. Heikkilä,
C. Blomqvist,
H. Nevanlinna
|
7 |
2005 |
7
🐜
|
|
🐜
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Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders
33 auth.
George. Stoll,
O. Pietiläinen,
B. Linder,
J. Suvisaari,
Cornelia Brosi,
W. Hennah,
V. Leppä,
M. Torniainen,
S. Ripatti,
S. Ala‐Mello,
Oliver Plöttner,
K. Rehnström,
A. Tuulio-Henriksson,
T. Varilo,
J. Tallila,
...
K. Kristiansson,
M. Isohanni,
J. Kaprio,
J. Eriksson,
O. Raitakari,
T. Lehtimäki,
M. Jarvelin,
V. Salomaa,
M. Hurles,
H. Stefánsson,
L. Peltonen,
P. Sullivan,
T. Paunio,
J. Lönnqvist,
M. Daly,
U. Fischer,
N. Freimer,
A. Palotie
|
7 |
2013 |
7
🐜
|
|
🦁
|
Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.
J. Tallila,
E. Jakkula,
L. Peltonen,
R. Salonen,
M. Kestilä
|
7 |
2008 |
7
🦁
|
|
🐜
|
Genetics and genotype–phenotype correlations in Finnish patients with dilated cardiomyopathy
13 auth.
Oyediran Akinrinade,
L. Ollila,
Sanna Vattulainen,
J. Tallila,
Massimiliano Gentile,
P. Salmenperä,
Hannele Koillinen,
M. Kaartinen,
Markku S. Nieminen,
S. Myllykangas,
...
Tero‐Pekka Alastalo,
J. Koskenvuo,
T. Heliö
|
7 |
2015 |
7
🐜
|
|
🐜
|
Evaluation of RAD50 in familial breast cancer predisposition
19 auth.
J. Tommiska,
S. Seal,
A. Renwick,
R. Barfoot,
L. Baskcomb,
H. Jayatilake,
J. Bártková,
J. Tallila,
Milja Kaare,
A. Tamminen,
...
P. Heikkilä,
D. Evans,
D. Eccles,
K. Aittomäki,
C. Blomqvist,
J. Bartek,
M. Stratton,
H. Nevanlinna,
N. Rahman
|
6 |
2006 |
6
🐜
|
|
🐜
|
Mutant CHUK and severe fetal encasement malformation.
11 auth.
J. Lahtela,
H. Nousiainen,
V. Stefanovic,
J. Tallila,
H. Viskari,
R. Karikoski,
...
M. Gentile,
C. Saloranta,
T. Varilo,
R. Salonen,
M. Kestilä
|
5 |
2010 |
5
🐜
|
|
🐜
|
Maps of Open Chromatin Guide the Functional Follow-Up of Genome-Wide Association Signals: Application to Hematological Traits
16 auth.
D. Paul,
James P. Nisbet,
Tsun-Po Yang,
Stuart Meacham,
A. Rendon,
Katta Hautaviita,
J. Tallila,
Jacqui White,
M. R. Tijssen,
S. Sivapalaratnam,
...
H. Basart,
M. Trip,
B. Göttgens,
N. Soranzo,
W. Ouwehand,
P. Deloukas
|
5 |
2011 |
5
🐜
|
|
🐜
|
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients
21 auth.
J. Hathaway,
Krista Heliö,
I. Saarinen,
J. Tallila,
E. Seppälä,
S. Tuupanen,
H. Turpeinen,
T. Kangas-Kontio,
J. Schleit,
J. Tommiska,
...
V. Kytölä,
M. Valori,
M. Muona,
J. Sistonen,
M. Gentile,
P. Salmenperä,
S. Myllykangas,
J. Paananen,
Tero‐Pekka Alastalo,
T. Heliö,
J. Koskenvuo
|
5 |
2021 |
5
🐜
|
