|
🐜
|
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination
22 auth.
E. Otto,
B. Schermer,
T. Obara,
John F. O'Toole,
Karl S. Hiller,
A. M. Mueller,
R. Ruf,
J. Hoefele,
Frank Beekmann,
D. Landau,
...
J. Foreman,
J. Goodship,
T. Strachan,
A. Kispert,
M. T. Wolf,
M. Gagnadoux,
H. Nivet,
C. Antignac,
G. Walz,
I. Drummond,
T. Benzing,
F. Hildebrandt
|
9 |
2003 |
9
🐜
|
|
🐜
|
Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia
11 auth.
R. Walder,
D. Landau,
P. Meyer,
H. Shalev,
M. Tsolia,
Z. Borochowitz,
...
M. Boettger,
G. Beck,
Richard K. Englehardt,
R. Carmi,
V. Sheffield
|
9 |
2002 |
9
🐜
|
|
🐜
|
An international consensus approach to the management of atypical hemolytic uremic syndrome in children
22 auth.
C. Loirat,
F. Fakhouri,
G. Ariceta,
N. Beşbaş,
M. Bitzan,
A. Bjerre,
R. Coppo,
F. Emma,
Sally Johnson,
D. Karpman,
...
D. Landau,
C. Langman,
Anne-Laure Lapeyraque,
C. Licht,
C. Nester,
C. Pecoraro,
M. Riedl,
N. Kar,
J. Walle,
M. Vivarelli,
V. Frémeaux-Bacchi,
F. International
|
9 |
2015 |
9
🐜
|
|
🐜
|
Guideline for the investigation and initial therapy of diarrhea-negative hemolytic uremic syndrome
13 auth.
G. Ariceta,
N. Beşbaş,
Sally Johnson,
D. Karpman,
D. Landau,
C. Licht,
C. Loirat,
C. Pecoraro,
C. Taylor,
N. Kar,
...
J. VandeWalle,
L. Zimmerhackl,
The European Paediatric Study Group for Hus
|
8 |
2009 |
8
🐜
|
|
🐜
|
Conjoined twins: A worldwide collaborative epidemiological study of the International Clearinghouse for Birth Defects Surveillance and Research
24 auth.
O. Mutchinick,
Leonora Luna-Muñoz,
E. Amar,
M. Bakker,
M. Clementi,
G. Cocchi,
M. da Graça Dutra,
M. Feldkamp,
D. Landau,
E. Leoncini,
...
Zhu Li,
B. Lowry,
L. Marengo,
M. Martínez‐Frías,
P. Mastroiacovo,
J. Métneki,
M. Morgan,
A. Pierini,
A. Rissman,
A. Ritvanen,
G. Scarano,
C. Siffel,
E. Szabová,
J. Arteaga-Vázquez
|
7 |
2011 |
7
🐜
|
|
🐜
|
Prevalence of esophageal atresia among 18 international birth defects surveillance programs.
29 auth.
N. Nassar,
E. Leoncini,
E. Amar,
J. Arteaga-Vázquez,
Marian K. Bakker,
C. Bower,
M. Canfield,
Eduardo E. Castilla,
Guido Cocchi,
A. Correa,
M. Csáky‐Szunyogh,
M. Feldkamp,
B. Khoshnood,
D. Landau,
N. Lelong,
...
J. López-Camelo,
R. Brian Lowry,
R. McDonnell,
P. Merlob,
J. Métneki,
M. Morgan,
O. Mutchinick,
Miland N. Palmer,
A. Rissmann,
C. Siffel,
A. Sipek,
E. Szabová,
D. Tucker,
P. Mastroiacovo
|
7 |
2012 |
7
🐜
|
|
🐢
|
Pathogenesis of urinary tract infections with normal female anatomy.
Gal Finer,
D. Landau
|
6 |
2004 |
6
🐢
|
|
🐜
|
Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus.
18 auth.
Nannette Marr,
D. Bichet,
S. Hoefs,
P. Savelkoul,
I. Konings,
F. De Mattia,
Michael P J Graat,
M. Arthus,
M. Lonergan,
T. Fujiwara,
...
N. Knoers,
D. Landau,
W. Balfe,
A. Oksche,
W. Rosenthal,
D. Müller,
C. van Os,
P. Deen
|
6 |
2002 |
6
🐜
|
|
🐢
|
Clinical presentation and outcome in primary familial hypomagnesaemia
H. Shalev,
M. Phillip,
A. Galil,
R. Carmi,
D. Landau
|
6 |
1998 |
6
🐢
|
|
🐢
|
Transient neonatal hyperkalemia in the antenatal (ROMK defective) Bartter syndrome.
7 auth.
Gal Finer,
H. Shalev,
O. Birk,
D. Galron,
N. Jeck,
L. Sinai-Treiman,
...
D. Landau
|
6 |
2003 |
6
🐢
|
|
🐜
|
Bladder exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature
24 auth.
C. Siffel,
A. Correa,
E. Amar,
Marian K. Bakker,
E. Bermejo-Sánchez,
S. Bianca,
Eduardo E. Castilla,
M. Clementi,
G. Cocchi,
M. Csáky‐Szunyogh,
...
M. Feldkamp,
D. Landau,
E. Leoncini,
R. Brian Lowry,
L. Marengo,
P. Mastroiacovo,
M. Morgan,
O. Mutchinick,
A. Pierini,
A. Rissmann,
A. Ritvanen,
G. Scarano,
E. Szabová,
R. Olney
|
6 |
2011 |
6
🐜
|
