|
🐜
|
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
52 auth.
P. Magini,
Daphne J. Smits,
Laura V. Vandervore,
R. Schot,
M. Columbaro,
E. Kasteleijn,
M. van der Ent,
Flavia Palombo,
M. Lequin,
M. Dremmen,
M. D. de Wit,
M. Severino,
M. T. Divizia,
P. Striano,
Natalia Ordoñez-Herrera,
...
Amal M Alhashem,
A. Al Fares,
M. al Ghamdi,
A. Rolfs,
P. Bauer,
J. Demmers,
F. Verheijen,
M. Wilke,
M. V. van Slegtenhorst,
P. J. van der Spek,
M. Seri,
A. Jansen,
R. Stottmann,
R. Hufnagel,
R. Hopkin,
D. Aljeaid,
W. Wiszniewski,
Paweł Gawliński,
M. Laure-Kamionowska,
F. Alkuraya,
Hana Akleh,
Valentina Stanley,
D. Musaev,
J. Gleeson,
M. Zaki,
N. Brunetti‐Pierri,
G. Cappuccio,
Bella Davidov,
L. Basel-Salmon,
L. Bazak,
Noa Shahar,
Aida M Bertoli Avella,
G. Mirzaa,
W. Dobyns,
T. Pippucci,
M. Fornerod,
G. Mancini
|
5 |
2019 |
5
🐜
|
|
🐜
|
Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations
23 auth.
Katheryn L. Grand,
Christina X Gonzalez-Gandolfi,
Amanda M. Ackermann,
D. Aljeaid,
E. Bedoukian,
L. Bird,
Diva D. De León,
Jullianne Diaz,
R. Hopkin,
S. Kadakia,
...
B. Keena,
K. Klein,
I. Krantz,
E. Leon,
K. Lord,
C. Mcdougall,
L. Medne,
Cara M Skraban,
C. Stanley,
Jennifer M. Tarpinian,
E. Zackai,
M. Deardorff,
J. Kalish
|
3 |
2019 |
3
🐜
|
|
🦁
|
Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathy
7 auth.
D. Aljeaid,
A. I. Sánchez,
E. Wakefield,
Sarah E. Chadwell,
N. Moore,
C. Prada,
...
Wenying Zhang
|
3 |
2019 |
3
🦁
|
|
🦁
|
A novel pathogenic variant in OFD1 results in X‐linked Joubert syndrome with orofaciodigital features and pituitary aplasia
D. Aljeaid,
R. Lombardo,
D. Witte,
R. Hopkin
|
3 |
2019 |
3
🦁
|
|
🐜
|
Structural characterization and conformational dynamics of alpha-1 antitrypsin pathogenic variants causing alpha-1-antitrypsin deficiency
11 auth.
N. Shaik,
Najla bint Saud Al-Saud,
Thamer Abdulhamid Aljuhani,
K. Jamil,
Huda Alnuman,
D. Aljeaid,
...
N. Sultana,
A. A. El-Harouni,
Z. Awan,
R. Elango,
B. Banaganapalli
|
2 |
2022 |
2
🐜
|
|
🐜
|
Comparison of Evolution of Aortic Root Dilation and Ghent Criteria in Preadolescents and Adolescents with and without Marfan Syndrome.
8 auth.
D. Monteil,
Amy R Shikany,
D. Aljeaid,
Ashley Parrott,
Justin T. Tretter,
J. James,
...
Lisa J. Martin,
K. Weaver
|
1 |
2020 |
1
🐜
|
