|
🐜
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Exome sequencing for the diagnosis of 46,XY disorders of sex development.
21 auth.
R. Baxter,
Valerie A. Arboleda,
Hane Lee,
H. Barseghyan,
M. Adam,
P. Fechner,
Renee Bargman,
C. Keegan,
S. Travers,
S. Schelley,
...
L. Hudgins,
R. Mathew,
H. Stalker,
R. Zori,
O. Gordon,
L. Ramos-Platt,
A. Pawlikowska‐Haddal,
Ascia Eskin,
S. Nelson,
Emmanuèle C. Délot,
E. Vilain
|
7 |
2015 |
7
🐜
|
|
🐜
|
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
40 auth.
V. Schartner,
N. Romero,
S. Donkervoort,
S. Treves,
P. Munot,
T. Pierson,
I. Dabaj,
E. Malfatti,
I. Zaharieva,
F. Zorzato,
Osório Abath Neto,
G. Brochier,
X. Lornage,
B. Eymard,
A. Taratuto,
...
J. Böhm,
H. Gonorazky,
L. Ramos-Platt,
Lucy Feng,
R. Phadke,
D. Bharucha-Goebel,
C. Sumner,
M. Bui,
E. Lacène,
M. Beuvin,
C. Labasse,
N. Dondaine,
R. Schneider,
Julie Thompson,
A. Boland,
J. Deleuze,
E. Matthews,
A. N. Pakleza,
C. Sewry,
V. Biancalana,
S. Quijano-roy,
F. Muntoni,
M. Fardeau,
C. Bönnemann,
J. Laporte
|
6 |
2017 |
6
🐜
|
|
🐜
|
Acute flaccid myelitis: cause, diagnosis, and management
109 auth.
Olwen C. Murphy,
K. Messacar,
L. Benson,
R. Bove,
J. Carpenter,
T. Crawford,
Janet M. Dean,
R. DeBiasi,
Jay Desai,
Matthew J. Elrick,
R. Farias-Moeller,
Grace Y. Gombolay,
B. Greenberg,
Matthew Harmelink,
Sue J. Hong,
...
S. Hopkins,
J. Oleszek,
Catherine E Otten,
C. Sadowsky,
T. Schreiner,
K. Thakur,
K. Haren,
C. Carballo,
P. Chong,
Amary Fall,
Vykuntaraju K Gowda,
J. Helfferich,
R. Kira,
M. Lim,
E. López,
Elizabeth M. Wells,
E. Yeh,
C. Pardo,
Andrea Salazar-Camelo,
Divakar S. Mithal,
Molly Wilson-Murphy,
A. Bauer,
Colyn J. Watkins,
M. Abzug,
S. Dominguez,
C. Press,
Michele Yang,
N. Ahsan,
L. Ramos-Platt,
E. Tiongson,
M. Seruya,
A. Tilton,
E. Katz,
M. Kirschen,
Apurva C. Shah,
E. Ulloa,
S. Yum,
Lileth Mondok,
M. Blaufuss,
A. Rosenfeld,
W. Vargas,
J. Zucker,
Anusha K. Yeshokumar,
Allison Navis,
Kristen Chao,
K. Hagen,
Michelle Melicosta,
C. Porter,
Margaret A. Tunney,
R. Scheuermann,
P. Duggal,
Andrew Pekosz,
A. Bayliss,
Meghan Moore,
A. Belzberg,
M. Bembea,
C. O’Brien,
Rebecca E. Riggs,
Jessica Nance,
A. Milstone,
Jessica Rice,
M. Garcia-Dominguez,
E. Flanagan,
J. Tillema,
G. Bosques,
Sonal Bhatia,
Eliza M. Gordon-Lipkin,
Dawn Deike,
G. Revivo,
D. Zlotolow,
Gabrielle deFiebre,
Peggy Lazerow,
T. Lotze,
A. Bitnun,
K. Davidge,
J. Vajsar,
Amy Moore,
C. Konersman,
K. Nash,
J. Strober,
N. Gupta,
Charles Chiu,
M. Sweeney,
William Jackson,
Dennis W. Simon,
Kavita Thakkar,
Jonathan Cheng,
Johnstone Luce,
Suman Das,
M. Vogt,
NgocHanh Vu,
Jacqueline S Gofshteyn,
N. Makhani,
Payal Patel
|
6 |
2020 |
6
🐜
|
|
🐜
|
Effectiveness of diffusion tensor imaging in assessing disease severity in Duchenne muscular dystrophy: preliminary study
7 auth.
S. Ponrartana,
L. Ramos-Platt,
T. Wren,
H. Hu,
T. Perkins,
J. Chia,
...
V. Gilsanz
|
6 |
2015 |
6
🐜
|
|
🐜
|
RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia.
8 auth.
S. Shaaban,
L. Ramos-Platt,
F. Gilles,
Wai-Man Chan,
C. Andrews,
U. de Girolami,
...
J. Demer,
E. Engle
|
4 |
2013 |
4
🐜
|
|
🐬
|
Treatment of pediatric chronic inflammatory demyelinating polyneuropathy: Challenges, controversies and questions
Jay Desai,
L. Ramos-Platt,
W. Mitchell
|
4 |
2015 |
4
🐬
|
|
🐜
|
Repeatability of chemical-shift-encoded water-fat MRI and diffusion-tensor imaging in lower extremity muscles in children.
7 auth.
S. Ponrartana,
Kristine E Andrade,
T. Wren,
L. Ramos-Platt,
H. Hu,
S. Bluml,
...
V. Gilsanz
|
4 |
2014 |
4
🐜
|
|
🐬
|
Left Ventricular Tonic Contraction as a Novel Biomarker of Cardiomyopathy in Duchenne Muscular Dystrophy
J. Su,
L. Ramos-Platt,
J. Menteer
|
3 |
2016 |
3
🐬
|
|
🐜
|
Quantifying RANKL and OPG levels in healthy children: A large cross-sectional analysis.
7 auth.
S. Akhtar Ali,
Harsimar Kang,
R. Olney,
L. Ramos-Platt,
Anna Ryabets-Lienhard,
Senta Georgia,
...
P. Pitukcheewanont
|
3 |
2019 |
3
🐜
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