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Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.
32 auth.
E. Mlynarski,
M. Sheridan,
Michael Xie,
T. Guo,
S. Racedo,
D. McDonald-McGinn,
Xiaowu Gai,
E. Chow,
J. Vorstman,
A. Swillen,
K. Devriendt,
J. Breckpot,
M. Digilio,
B. Marino,
B. Dallapiccola,
...
N. Philip,
T. Simon,
A. Roberts,
M. Piotrowicz,
C. Bearden,
S. Eliez,
D. Gothelf,
K. Coleman,
W. Kates,
M. Devoto,
E. Zackai,
D. Heine-Suñer,
T. Shaikh,
A. Bassett,
E. Goldmuntz,
B. Morrow,
B. Emanuel
|
5 |
2015 |
5
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|
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Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome
32 auth.
E. Mlynarski,
Michael Xie,
Deanne M. Taylor,
M. Sheridan,
T. Guo,
S. Racedo,
D. McDonald-McGinn,
E. Chow,
J. Vorstman,
A. Swillen,
K. Devriendt,
J. Breckpot,
M. Digilio,
B. Marino,
B. Dallapiccola,
...
N. Philip,
T. Simon,
A. Roberts,
M. Piotrowicz,
C. Bearden,
S. Eliez,
D. Gothelf,
K. Coleman,
W. Kates,
M. Devoto,
E. Zackai,
D. Heine- Suñer,
E. Goldmuntz,
A. Bassett,
B. Morrow,
B. Emanuel,
The International HapMap Consortium
|
5 |
2016 |
5
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|
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Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity
10 auth.
M. Gos,
S. Fahiminiya,
J. Poznanski,
J. Klapecki,
E. Obersztyn,
M. Piotrowicz,
...
J. Wierzba,
R. Posmyk,
J. Bal,
J. Majewski
|
5 |
2014 |
5
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|
🐜
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Comprehensive genomic analysis of patients with disorders of cerebral cortical development
37 auth.
W. Wiszniewski,
Paweł Gawliński,
T. Gambin,
M. Bekiesińska-Figatowska,
E. Obersztyn,
D. Antczak-Marach,
Z. Akdemir,
T. Harel,
E. Karaca,
M. Jurek,
K. Sobecka,
B. Nowakowska,
M. Kruk,
I. Terczyńska,
Alicja Goszczańska-Ciuchta,
...
Mariola Rudzka-Dybała,
E. Jamroz,
A. Pyrkosz,
A. Jakubiuk-Tomaszuk,
P. Iwanowski,
D. Gieruszczak-Bialek,
M. Piotrowicz,
M. Sąsiadek,
Iwona Kochanowska,
B. Gurda,
B. Steinborn,
M. Dawidziuk,
Jennifer Castañeda,
P. Własienko,
Natalia Bezniakow,
S. Jhangiani,
D. Hoffman-Zacharska,
J. Bal,
E. Szczepanik,
E. Boerwinkle,
R. Gibbs,
J. Lupski
|
5 |
2018 |
5
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|
|
🐜
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DHCR7 mutations and genotype–phenotype correlation in 37 Polish patients with Smith–Lemli–Opitz syndrome
10 auth.
E. Ciara,
Małgorzata J. M. Nowaczyk,
M. Witsch-Baumgartner,
E. M. Malunowicz,
E. Popowska,
A. Jezela-Stanek,
...
M. Piotrowicz,
John S. Waye,
G. Utermann,
M. Krajewska-Walasek
|
4 |
2004 |
4
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|
🐜
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DHCR7 mutations and genotype–phenotype correlation in 37 Polish patients with Smith–Lemli–Opitz syndrome
10 auth.
E. Ciara,
Małgorzata J. M. Nowaczyk,
M. Witsch-Baumgartner,
E. M. Malunowicz,
E. Popowska,
A. Jezela-Stanek,
...
M. Piotrowicz,
John S. Waye,
G. Utermann,
M. Krajewska-Walasek
|
4 |
2004 |
4
🐜
|
|
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Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome
11 auth.
C. Courage,
C. Jackson,
M. Owczarek-Lipska,
A. Jamsheer,
Anna Sowińska-Seidler,
M. Piotrowicz,
...
L. Jakubowski,
Fanny Dallèves,
E. Riesch,
J. Neidhardt,
J. Lemke
|
3 |
2019 |
3
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