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🦁
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Long-term Outcome and Clinical Spectrum of 73 Pediatric Patients With Mitochondrial Diseases
8 auth.
F. Debray,
M. Lambert,
I. Chevalier,
Y. Robitaille,
J. Décarie,
E. Shoubridge,
...
B. Robinson,
G. Mitchell
|
7 |
2007 |
7
🦁
|
|
🐜
|
Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy
22 auth.
Cas Simons,
L. Rash,
J. Crawford,
Linlin Ma,
B. Cristofori-Armstrong,
David J. Miller,
Kelin Ru,
G. Baillie,
Y. Alanay,
Adeline Jacquinet,
...
F. Debray,
A. Verloes,
Joseph Shen,
G. Yeşil,
Serhat Guler,
A. Yuksel,
John G. Cleary,
S. Grimmond,
J. McGaughran,
G. King,
M. Gabbett,
R. Taft
|
7 |
2014 |
7
🐜
|
|
🦁
|
Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis.
F. Debray,
G. Mitchell,
P. Allard,
B. Robinson,
J. Hanley,
M. Lambert
|
6 |
2007 |
6
🦁
|
|
🐬
|
Reproduction, Smell, and Neurodevelopmental Disorders: Genetic Defects in Different Hypogonadotropic Hypogonadal Syndromes
H. Valdés-Socin,
Matilde Rubio Almanza,
M. Tomé Fernández-Ladreda,
F. Debray,
V. Bours,
A. Beckers
|
6 |
2014 |
6
🐬
|
|
🐜
|
Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome
39 auth.
Gillian I. Rice,
C. Meyzer,
N. Bouazza,
M. Hully,
N. Boddaert,
Michaela Semeraro,
Leo A H Zeef,
Flore Rozenberg,
V. Bondet,
D. Duffy,
A. Llibre,
Jinmi Baek,
Mame N Sambe,
Elodie Henry,
V. Jolaine,
...
C. Barnerias,
Magalie Barth,
Alexandre Bélot,
C. Cances,
F. Debray,
D. Doummar,
M. Frémond,
Naoki Kitabayashi,
A. Lepelley,
Virginie Levrat,
I. Melki,
Pierre Meyer,
Marie-Christine Nouguès,
F. Renaldo,
M. Rodero,
Diana Rodriguez,
A. Roubertie,
L. Seabra,
C. Uggenti,
H. Abdoul,
J. Treluyer,
I. Desguerre,
Stéphane Blanche,
Y. Crow
|
6 |
2018 |
6
🐜
|
|
🦁
|
LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency
12 auth.
F. Debray,
C. Morin,
A. Janvier,
J. Villeneuve,
B. Maranda,
R. Laframboise,
...
J. Lacroix,
J. Décarie,
Y. Robitaille,
M. Lambert,
B. Robinson,
G. Mitchell
|
6 |
2011 |
6
🦁
|
|
🐜
|
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects
37 auth.
E. Hilton,
J. Johnston,
S. Whalen,
N. Okamoto,
Y. Hatsukawa,
J. Nishio,
H. Kohara,
Y. Hirano,
S. Mizuno,
C. Torii,
K. Kosaki,
S. Manouvrier,
O. Boute,
R. Perveen,
C. Law,
...
A. Moore,
D. FitzPatrick,
J. Lemke,
F. Fellmann,
F. Debray,
Florence Dastot-Le-Moal,
M. Gérard,
Josiane Martin,
P. Bitoun,
M. Goossens,
A. Verloes,
A. Schinzel,
D. Bartholdi,
T. Bardakjian,
B. Hay,
Kim Jenny,
K. Johnston,
M.J. Lyons,
J. Belmont,
L. Biesecker,
I. Giurgea,
G. Black
|
6 |
2009 |
6
🐜
|
|
🦁
|
Disorders of mitochondrial function
F. Debray,
M. Lambert,
G. Mitchell
|
6 |
2008 |
6
🦁
|
|
🐜
|
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients
33 auth.
S. Moortgat,
S. Berland,
I. Aukrust,
I. Maystadt,
L. Baker,
V. Benoit,
A. Caro-Llopis,
N. Cooper,
F. Debray,
L. Faivre,
T. Gardeitchik,
B. Haukanes,
G. Houge,
E. Kivuva,
F. Martínez,
...
S. Mehta,
M. Nassogne,
N. Powell-Hamilton,
R. Pfundt,
M. Roselló,
T. Prescott,
P. Vasudevan,
B. van Loon,
C. Verellen‐Dumoulin,
A. Verloes,
C. Lippe,
E. Wakeling,
A. Wilkie,
L. Wilson,
A. Yuen,
D. Study,
K. Low,
R. Newbury-Ecob
|
6 |
2017 |
6
🐜
|
|
🐜
|
Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1
68 auth.
L. Mansour-Hendili,
A. Blanchard,
N. Pottier,
Isabelle Roncelin,
S. Lourdel,
C. Tréard,
W. González,
Ariela Vergara-Jaque,
G. Morin,
E. Colin,
M. Holder‐Espinasse,
J. Bacchetta,
V. Baudouin,
S. Benoit,
E. Bérard,
...
G. Bourdat-Michel,
K. Bouchireb,
S. Burtey,
M. Cailliez,
G. Cardon,
Claire Cartery,
G. Champion,
D. Chauveau,
P. Cochat,
K. Dahan,
R. Faille,
F. Debray,
Laurenne Dehoux,
G. Deschênes,
É. Desport,
O. Devuyst,
S. Diéguez,
F. Emma,
M. Fischbach,
D. Fouque,
J. Fourcade,
H. François,
B. Gilbert-Dussardier,
T. Hannedouche,
P. Houillier,
H. Izzedine,
M. Janner,
A. Karras,
B. Knebelmann,
M. Lavocat,
S. Lemoine,
V. Leroy,
C. Loirat,
M. Macher,
D. Martin‐Coignard,
D. Morin,
P. Niaudet,
H. Nivet,
F. Nobili,
R. Novo,
L. Faivre,
C. Rigothier,
G. Roussey-Kesler,
R. Salomon,
A. Schleich,
A. Sellier-Leclerc,
K. Soulami,
A. Tiple,
T. Ulinski,
P. Vanhille,
N. Regemorter,
X. Jeunemaître,
R. Vargas-Poussou
|
6 |
2015 |
6
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|
