|
🦁
|
Homocysteine and other thiols in plasma and urine: automated determination and sample stability.
T. Fiskerstrand,
H. Refsum,
G. Kvalheim,
P. Ueland
|
9 |
1993 |
9
🦁
|
|
🐜
|
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.
28 auth.
C. Bredrup,
S. Saunier,
M. Oud,
T. Fiskerstrand,
A. Hoischen,
D. Brackman,
S. Leh,
Marit Midtbø,
E. Filhol,
C. Bôle-Feysot,
P. Nitschké,
C. Gilissen,
O. Haugen,
J. Sanders,
I. Stolte-Dijkstra,
...
D. Mans,
E. Steenbergen,
B. Hamel,
M. Matignon,
R. Pfundt,
C. Jeanpierre,
H. Boman,
E. Rødahl,
J. Veltman,
P. Knappskog,
N. Knoers,
R. Roepman,
H. Arts
|
7 |
2011 |
7
🐜
|
|
🦁
|
Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.
19 auth.
T. Fiskerstrand,
D. H'mida-Ben Brahim,
S. Johansson,
A. M'zahem,
B. Haukanes,
N. Drouot,
J. Zimmermann,
A. Cole,
C. Vedeler,
C. Bredrup,
...
M. Assoum,
M. Tazir,
T. Klockgether,
A. Hamri,
V. Steen,
H. Boman,
L. Bindoff,
M. Koenig,
P. Knappskog
|
7 |
2010 |
7
🦁
|
|
🐬
|
Plasma concentrations of homocysteine and other aminothiol compounds are related to food intake in healthy human subjects.
A. Guttormsen,
J. Schneede,
T. Fiskerstrand,
P. Ueland,
H. Refsum
|
7 |
1994 |
7
🐬
|
|
🐜
|
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis
25 auth.
Z. Jenkins,
M. Kogelenberg,
Tim Morgan,
A. Jeffs,
R. Fukuzawa,
Esther J. Pearl,
C. Thaller,
A. Hing,
M. Porteous,
S. García-Miñaúr,
A. Bohring,
D. Lacombe,
F. Stewart,
T. Fiskerstrand,
L. Bindoff,
...
S. Berland,
L. Adès,
M. Tchan,
A. David,
L. Wilson,
R. Hennekam,
D. Donnai,
S. Mansour,
V. Cormier-Daire,
S. Robertson
|
7 |
2009 |
7
🐜
|
|
🦁
|
Familial diarrhea syndrome caused by an activating GUCY2C mutation.
16 auth.
T. Fiskerstrand,
N. Arshad,
B. Haukanes,
R. Tronstad,
K. Pham,
S. Johansson,
B. Håvik,
Siv L Tønder,
S. Levy,
D. Brackman,
...
H. Boman,
K. Biswas,
J. Apold,
N. Hovdenak,
S. Visweswariah,
P. Knappskog
|
7 |
2012 |
7
🦁
|
|
🐜
|
A Cross-Sectional Study of the Prevalence of Gastrointestinal Symptoms and Pathology in Patients With Common Variable Immunodeficiency
23 auth.
S. Jørgensen,
H. Reims,
Didrik S. Frydenlund,
K. Holm,
V. Paulsen,
A. Michelsen,
K. Jørgensen,
L. Osnes,
J. Bratlie,
T. Eide,
...
C. Dahl,
E. Holter,
R. Tronstad,
K. Hanevik,
Hans-Richard Brattbakk,
F. Kaveh,
T. Fiskerstrand,
A. Kran,
T. Ueland,
T. Karlsen,
P. Aukrust,
K. Lundin,
B. Fevang
|
6 |
2016 |
6
🐜
|
|
🐬
|
Redox status and protein binding of plasma aminothiols during the transient hyperhomocysteinemia that follows homocysteine administration.
M. A. Mansoor,
A. Guttormsen,
T. Fiskerstrand,
H. Refsum,
P. Ueland,
A. Svardal
|
6 |
1993 |
6
🐬
|
|
🐜
|
Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity
28 auth.
S. Robertson,
Z. Jenkins,
Tim Morgan,
L. Adès,
S. Aftimos,
O. Boute,
T. Fiskerstrand,
S. García-Miñaúr,
A. Grix,
A. Green,
V. Kaloustian,
R. Lewkonia,
B. McInnes,
M. V. van Haelst,
Grazia Macini,
...
T. Illés,
G. Mortier,
R. Newbury-Ecob,
L. Nicholson,
C. Scott,
Karolina Ochman,
I. Brożek,
D. Shears,
A. Superti-Furga,
M. Suri,
M. Whiteford,
A. Wilkie,
D. Krakow
|
6 |
2006 |
6
🐜
|
|
🐬
|
Kinetics of plasma homocysteine in healthy subjects after peroral homocysteine loading.
A. Guttormsen,
A. Mansoor,
T. Fiskerstrand,
P. Ueland,
H. Refsum
|
6 |
1993 |
6
🐬
|
