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Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.
62 auth.
D. Beck,
M. Ferrada,
K. Sikora,
A. Ombrello,
Jason C. Collins,
W. Pei,
Nicholas Balanda,
Daron L Ross,
Daniela Ospina Cardona,
Zhijie Wu,
B. Patel,
K. Manthiram,
E. Groarke,
Fernanda Gutierrez-Rodrigues,
P. Hoffmann,
...
Sofia Rosenzweig,
S. Nakabo,
L. Dillon,
C. Hourigan,
W. Tsai,
Sarthak Gupta,
C. Carmona-Rivera,
A. Asmar,
Lisha Xu,
H. Oda,
W. Goodspeed,
K. Barron,
M. Nehrebecky,
Anne Jones,
Ryan S Laird,
N. Deuitch,
D. Rowczenio,
Emily Rominger,
K. Wells,
C. Lee,
Weixin Wang,
Megan Trick,
J. Mullikin,
G. Wigerblad,
S. Brooks,
S. Dell’Orso,
Z. Deng,
J. Chae,
Alina Dulau-Florea,
M. Malicdan,
Danica Novacic,
R. Colbert,
M. Kaplan,
M. Gadina,
S. Savic,
H. Lachmann,
M. Abu-Asab,
B. Solomon,
K. Retterer,
W. Gahl,
S. Burgess,
I. Aksentijevich,
N. Young,
K. Calvo,
Achim Werner,
D. Kastner,
P. Grayson
|
9 |
2020 |
9
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Comparative effects of three popular diets on lipids, endothelial function, and C-reactive protein during weight maintenance.
8 auth.
Michael Miller,
Valerie Beach,
J. Sorkin,
C. Mangano,
C. Dobmeier,
Danica Novacic,
...
J. Rhyne,
R. Vogel
|
5 |
2009 |
5
🐜
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🐜
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ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder
46 auth.
Lloyd Williams,
Asif Javed,
Asif Javed,
Amin Sabri,
Denise J. Morgan,
C. Huff,
C. Huff,
J. Grigg,
J. Grigg,
Xiu Ting Heng,
A. Khng,
I. Hollink,
M. Morrison,
Leah A. Owen,
K. Anderson,
...
Krista I Kinard,
Rebecca Greenlees,
Danica Novacic,
H. Sen,
W. Zein,
G. Rodgers,
A. Vitale,
N. Haider,
A. Hillmer,
P. Ng,
Shankaracharya,
Anson Cheng,
Linda Zheng,
M. Gillies,
M. V. Slegtenhorst,
P. V. Hagen,
T. Missotten,
G. L. Farley,
M. Polo,
J. Malatack,
J. Curtin,
F. Martin,
S. Arbuckle,
S. Alexander,
M. Chircop,
S. Davila,
K. Digre,
R. Jamieson,
R. Jamieson,
R. Jamieson,
M. DeAngelis
|
5 |
2019 |
5
🐜
|
|
🐜
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De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
36 auth.
M. Tokita,
Chun-An Chen,
D. Chitayat,
Ellen F. Macnamara,
J. Rosenfeld,
N. Hanchard,
Andrea M. Lewis,
Chester W. Brown,
Ronit Marom,
Yunru Shao,
Danica Novacic,
L. Wolfe,
Colleen E. Wahl,
C. Tifft,
C. Toro,
...
J. Bernstein,
Caitlin L Hale,
Julia Silver,
L. Hudgins,
Amitha Ananth,
Andrea Hanson‐Kahn,
S. Shuster,
P. Magoulas,
Vipulkumar Patel,
Wenmiao Zhu,
S. Chen,
Yanjun Jiang,
Pengfei Liu,
C. Eng,
Dominyka Batkovskyte,
Alberto di Ronza,
Marco Sardiello,
Brendan H. Lee,
C. Schaaf,
Yaping Yang,
Xia Wang
|
5 |
2018 |
5
🐜
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|
🐬
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SGLT2 Inhibitors for Treatment of Refractory Hypomagnesemia: A Case Report of 3 Patients
Evan C. Ray,
Cary R. Boyd-Shiwarski,
Pengfei Liu,
Danica Novacic,
D. Cassiman
|
5 |
2020 |
5
🐬
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|
🐢
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Case report: extreme coronary calcifications and hypomagnesemia in a patient with a 17q12 deletion involving HNF1B
7 auth.
Howard J Li,
C. Groden,
M. Hoenig,
Evan C. Ray,
C. Ferreira,
W. Gahl,
...
Danica Novacic
|
3 |
2019 |
3
🐢
|
|
🐜
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Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability
32 auth.
D. Erdinc,
Alejandro Rodríguez-Luis,
Mahmoud Fassad,
Sarah Mackenzie,
C. Watson,
Sebastian Valenzuela,
Xie Xie,
Katja E. Menger,
K. Sergeant,
K. Craig,
S. Hopton,
G. Falkous,
J. Poulton,
H. Garcia-Moreno,
P. Giunti,
...
Carlos A de Moura Aschoff,
J. A. Morales Saute,
Amelia J Kirby,
C. Toro,
L. Wolfe,
Danica Novacic,
L. Greenbaum,
A. Eliyahu,
O. Barel,
Y. Anikster,
R. Mcfarland,
G. Gorman,
A. Schaefer,
C. Gustafsson,
R. Taylor,
M. Falkenberg,
T. Nicholls
|
3 |
2023 |
3
🐜
|
|
🐜
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Control/Tracking Number: 07-SS-A-9531-AHA Activity: Abstract Current Date/Time: 5/24/2007 1:21:18 PM Comparative Effects of 3 Popular Diets on Lipids, Endothelial Function and Biomarkers of Atherothrombosis in the Absence of Weight Loss
7 auth.
Michael I. Miller,
Valerie Beach,
C. Mangano,
J. Rhyne,
C. Dobmeier,
Danica Novacic,
...
R. Vogel
|
0 |
2007 |
0
🐜
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|
🦁
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Calciphylaxis in POEMS syndrome: Case report
7 auth.
Danica Novacic,
Thomas Uldrick,
Alina Dulau-Florea,
Colleen Evans Howe,
Chyi-Chia R. Lee,
Heidi H. Kong,
...
William A. Gahl
|
0 |
2024 |
0
🦁
|
