|
🐜
|
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
52 auth.
S. C. Hsu,
R. Sears,
R. Lemos,
B. Quintáns,
Alden Huang,
E. Spiteri,
Lisette Nevarez,
Catherine Mamah,
M. Zatz,
K. Pierce,
J. Fullerton,
J. Adair,
J. Berner,
Matthew Bower,
H. Brodaty,
...
O. Carmona,
V. Dobricic,
B. Fogel,
D. García-Estévez,
J. Goldman,
J. Goudreau,
S. Hopfer,
Milena Janković,
S. Jaumà,
J. Jen,
S. Kirdlarp,
J. Klepper,
V. Kostic,
A. Lang,
A. Linglart,
M. Maisenbacher,
B. Manyam,
P. Mazzoni,
Z. Miedzybrodzka,
Witoon Mitarnun,
P. Mitchell,
Jennifer M. Mueller,
I. Novaković,
M. Paucar,
H. Paulson,
S. Simpson,
P. Svenningsson,
P. Tuite,
J. Vitek,
S. Wetchaphanphesat,
C. Williams,
Michele Yang,
P. Schofield,
J. R. Oliveira,
M. Sobrido,
D. Geschwind,
G. Coppola
|
7 |
2013 |
7
🐜
|
|
🐜
|
Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions
24 auth.
C. Schaaf,
Philip M Boone,
S. Sampath,
C. Williams,
P. Bader,
Jennifer M. Mueller,
O. Shchelochkov,
Chester W. Brown,
Heather P. Crawford,
James A. Phalen,
...
N. Tartaglia,
Patricia A Evans,
William M Campbell,
A. Tsai,
L. Parsley,
Stephanie Grayson,
A. Scheuerle,
Carol Luzzi,
Sandra K Thomas,
Patricia A Eng,
Sung-Hae L. Kang,
Ankita Patel,
P. Stankiewicz,
S. Cheung
|
6 |
2012 |
6
🐜
|
|
🐜
|
Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.
32 auth.
M. Ramocki,
M. Ramocki,
M. Bartnik,
P. Szafranski,
K. Kołodziejska,
Z. Xia,
J. Bravo,
G. Miller,
Diana L. Rodriguez,
Diana L. Rodriguez,
C. Williams,
P. Bader,
E. Szczepanik,
Tomasz Mazurczak,
D. Antczak-Marach,
...
J. Coldwell,
Cigdem I. Akman,
Cigdem I. Akman,
Karen McAlmon,
Karen McAlmon,
Melinda Cohen,
J. McGrath,
E. Roeder,
Jennifer M. Mueller,
Sung-Hae L. Kang,
C. Bacino,
Ankita Patel,
E. Bocian,
C. Shaw,
S. Cheung,
T. Mazurczak,
P. Stankiewicz
|
6 |
2010 |
6
🐜
|
|
🐜
|
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons
25 auth.
M. May,
Kyu-Seok Hwang,
J. Miles,
Charlie Williams,
Tejasvi Niranjan,
S. Kahler,
P. Chiurazzi,
K. Steindl,
P. J. van der Spek,
S. Swagemakers,
Jennifer M. Mueller,
Shannon K. Stefl,
E. Alexov,
Jeong-Im Ryu,
J. Choi,
...
Hyun-Taek Kim,
P. Tarpey,
G. Neri,
L. Holloway,
C. Skinner,
R. Stevenson,
R. Dorsky,
Tao Wang,
C. Schwartz,
Cheol‐Hee Kim
|
5 |
2015 |
5
🐜
|
|
🐜
|
TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy
15 auth.
A. Larson,
Peter R Baker,
Miroslav P. Milev,
C. Press,
R. Sokol,
M. Cox,
Jacqueline K. Lekostaj,
A. Stence,
A. Bossler,
Jennifer M. Mueller,
...
Keshika Prematilake,
T. F. Tadjo,
C. Williams,
M. Sacher,
S. Moore
|
5 |
2018 |
5
🐜
|
|
🐜
|
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
52 auth.
S. C. Hsu,
R. Sears,
R. Lemos,
B. Quintáns,
Alden Huang,
E. Spiteri,
Lisette Nevarez,
Catherine Mamah,
M. Zatz,
K. Pierce,
J. Fullerton,
J. Adair,
J. Berner,
Matthew Bower,
H. Brodaty,
...
Olga Carmona,
V. Dobricic,
B. Fogel,
D. García-Estévez,
J. Goldman,
J. Goudreau,
Suellen Hopfer,
Milena Janković,
S. Jaumà,
J. Jen,
S. Kirdlarp,
J. Klepper,
V. Kostić,
A. Lang,
A. Linglart,
M. Maisenbacher,
B. Manyam,
P. Mazzoni,
Z. Miedzybrodzka,
Witoon Mitarnun,
P. Mitchell,
Jennifer M. Mueller,
I. Novaković,
M. Paucar,
Henry M. Paulson,
S. Simpson,
P. Svenningsson,
P. Tuite,
J. Vitek,
S. Wetchaphanphesat,
Charles Williams,
M. Yang,
P. Schofield,
J. R. D. de Oliveira,
M. Sobrido,
D. Geschwind,
G. Coppola
|
3 |
2013 |
3
🐜
|
|
🐬
|
A Case of 22q11.2 Deletion Syndrome with Peters Anomaly, Congenital Glaucoma, and Heterozygous Mutation in CYP1B1
L. Reis,
Rebecca C. Tyler,
R. Zori,
J. Burgess,
Jennifer M. Mueller,
E. Semina
|
2 |
2015 |
2
🐬
|
|
🐬
|
Figure 2. [Schematic drawing of chromosome region...].
A. Dagli,
Jennifer M. Mueller,
C. Williams
|
0 |
2015 |
0
🐬
|
