|
🐜
|
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.
30 auth.
I. Audo,
S. Kohl,
B. Leroy,
F. Munier,
X. Guillonneau,
S. Mohand-Saïd,
K. Bujakowska,
E. Nandrot,
B. Lorenz,
M. Preising,
U. Kellner,
A. Renner,
A. Bernd,
A. Antonio,
V. Moskova-Doumanova,
...
Marie‐Elise Lancelot,
C. Poloschek,
I. Drumare,
S. Defoort‐Dhellemmes,
B. Wissinger,
T. Léveillard,
C. Hamel,
D. Schorderet,
E. de Baere,
W. Berger,
S. Jacobson,
E. Zrenner,
J. Sahel,
S. Bhattacharya,
C. Zeitz
|
7 |
2009 |
7
🐜
|
|
🐜
|
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype
12 auth.
I. Perrault,
N. Delphin,
S. Hanein,
S. Gerber,
J. Dufier,
O. Roche,
...
S. Defoort‐Dhellemmes,
H. Dollfus,
E. Fazzi,
A. Munnich,
J. Kaplan,
J. Rozet
|
7 |
2007 |
7
🐜
|
|
🐬
|
Accidental and nonaccidental head injuries in infants: a prospective study.
M. Vinchon,
S. Defoort‐Dhellemmes,
M. Desurmont,
P. Dhellemmes
|
7 |
2005 |
7
🐬
|
|
🐜
|
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.
52 auth.
I. Audo,
K. Bujakowska,
Elise Orhan,
C. Poloschek,
S. Defoort‐Dhellemmes,
I. Drumare,
S. Kohl,
Tien-Dao Luu,
O. Lecompte,
E. Zrenner,
Marie‐Elise Lancelot,
A. Antonio,
A. Germain,
C. Michiels,
Claire Audier,
...
M. Letexier,
J. Saraiva,
B. Leroy,
F. Munier,
S. Mohand-Saïd,
B. Lorenz,
C. Friedburg,
M. Preising,
U. Kellner,
A. Renner,
V. Moskova-Doumanova,
W. Berger,
B. Wissinger,
C. Hamel,
D. Schorderet,
E. de Baere,
D. Sharon,
E. Banin,
S. Jacobson,
D. Bonneau,
X. Zanlonghi,
G. Le Meur,
I. Casteels,
R. Koenekoop,
V. Long,
F. Meire,
K. Prescott,
T. de Ravel,
I. Simmons,
Hoan Nguyen,
H. Dollfus,
O. Poch,
T. Léveillard,
K. Nguyen-Ba-Charvet,
J. Sahel,
S. Bhattacharya,
C. Zeitz
|
6 |
2012 |
6
🐜
|
|
🐬
|
Subdural hematoma in infants: can it occur spontaneously? Data from a prospective series and critical review of the literature
M. Vinchon,
I. Delestret,
S. Defoort‐Dhellemmes,
M. Desurmont,
N. Noulé
|
6 |
2010 |
6
🐬
|
|
🐬
|
Infantile Subdural Hematomas due to Traffic Accidents
M. Vinchon,
O. Noizet,
S. Defoort‐Dhellemmes,
G. Soto-ares,
P. Dhellemmes
|
6 |
2002 |
6
🐬
|
|
🐜
|
ERG and anatomical abnormalities suggesting retinopathy in dementia with Lewy bodies
7 auth.
D. Devos,
M. Tir,
C. Maurage,
N. Waucquier,
L. Defebvre,
S. Defoort‐Dhellemmes,
...
A. Destée
|
5 |
2005 |
5
🐜
|
|
🐜
|
Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis.
11 auth.
I. Meunier,
A. Sénéćhal,
C. Dhaenens,
C. Arndt,
B. Puech,
S. Defoort‐Dhellemmes,
...
G. Manes,
D. Chazalette,
E. Mazoir,
B. Bocquet,
C. Hamel
|
5 |
2011 |
5
🐜
|
|
🐜
|
Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.
14 auth.
I. Meunier,
G. Manes,
B. Bocquet,
V. Marquette,
C. Baudoin,
B. Puech,
S. Defoort‐Dhellemmes,
I. Audo,
R. Verdet,
C. Arndt,
...
X. Zanlonghi,
G. Le Meur,
C. Dhaenens,
C. Hamel
|
5 |
2014 |
5
🐜
|
|
🐬
|
A comparative optical coherence tomography study in neuromyelitis optica spectrum disorder and multiple sclerosis
O. Outteryck,
B. Majed,
S. Defoort‐Dhellemmes,
P. Vermersch,
H. Zéphir
|
5 |
2015 |
5
🐬
|
