|
π
|
Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects
16 auth.
S. Horsley,
R. Daniels,
E. Anguita,
H. Raynham,
J. Peden,
A. Villegas,
M. Vickers,
Sarah Green,
J. Waye,
D. Chui,
...
H. Ayyub,
A. Maccarthy,
V. Buckle,
R. Gibbons,
L. Kearney,
D. Higgs
|
5 |
2001 |
5
π
|
|
π¬
|
Hb H hydrops fetalis syndrome associated with the interaction of two common determinants of Ξ± thalassaemia (ββMED/Ξ±TSaudiΞ±)
V. Viprakasit,
Sarah Green,
S. Height,
H. Ayyub,
D. Higgs
|
5 |
2002 |
5
π¬
|
|
π
|
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy
29 auth.
Sakshi Singh,
M. Zech,
Ashley N. Sigafoos,
K. Clark,
Yasemin Dincer,
M. Wagner,
J. Humberson,
Sarah Green,
K. V. Gassen,
T. Brandt,
PhD Facmg,
R. Schnur,
MD Facmg,
F. Millan,
Y. Si,
...
V. Mall,
J. Winkelmann,
R. Gavrilova,
E. Klee,
Kendra L. Engleman,
N. Safina,
R. Slaugh,
Emily M Bryant,
W. Tan,
J. Granadillo,
Sunita N. Misra,
Shelley Towner,
E. Brilstra,
B. Koeleman
|
4 |
2020 |
4
π
|
|
π
|
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder
67 auth.
T. Brunet,
K. McWalter,
Katharina Mayerhanser,
Grace M Anbouba,
Amy Armstrong-Javors,
I. Bader,
E. Baugh,
Amber Begtrup,
Caleb P. Bupp,
Caleb P. Bupp,
B. Callewaert,
B. Callewaert,
A. Cereda,
M. Cousin,
Juan C Del Rey Jimenez,
...
L. Demmer,
Nikita R. Dsouza,
N. Fleischer,
R. Gavrilova,
Sumedha Ghate,
E. Graf,
A. Green,
Sarah Green,
M. Iascone,
Ameni Kdissa,
D. Klee,
E. Klee,
Emily Lancaster,
K. Lindstrom,
J. Mayr,
M. McEntagart,
N. Meeks,
Dana Mittag,
Harrison S. Moore,
Anne-Kathryn Olsen,
Damara Ortiz,
Gretchen M Parsons,
Loren D M Pena,
Loren D. M. Pena,
R. Person,
Sumit Punj,
Gonzalo Alonso Ramos-Rivera,
M. Sacoto,
G. Schaefer,
R. Schnur,
T. Scott,
T. Scott,
D. Scott,
D. Scott,
C. R. Serbinski,
V. Shashi,
V. Siu,
B. Stadheim,
J. Sullivan,
J. Ε vantnerovΓ‘,
L. Velsher,
D. Wargowski,
D. Wargowski,
I. Wentzensen,
D. Wieczorek,
J. Winkelmann,
Patrick Yap,
M. Zech,
Michael T. Zimmermann,
T. Meitinger,
F. Distelmaier,
M. Wagner
|
3 |
2020 |
3
π
|
|
π¬
|
Papers to be published in forthcoming issues
V. Viprakasit,
Sarah Green,
S. Height,
H. Ayyub,
D. Higgs
|
2 |
2002 |
2
π¬
|
