Type: Article
| 2007
| Item not available on this server.
Large-scale discovery of novel genetic causes of developmental disorders -
T.W. Fitzgerald,
S.S. Gerety,
W.D. Jones,
M. van Kogelenberg,
D.A. King,
J. McRae,
K.I. Morley,
V. Parthiban,
S. Al-Turki,
K. Ambridge,
D.M. Barrett,
T. Bayzetinova,
S. Clayton,
E.L. Coomber,
S. Gribble,
P. Jones,
N. Krishnappa,
L.E. Mason,
A. Middleton,
R. Miller,
E. Prigmore,
D. Rajan,
A. Sifrim,
A.R. Tivey,
M. Ahmed,
N. Akawi,
R. Andrews,
U. Anjum,
H. Archer,
R. Armstrong,
M. Balasubramanian,
R. Banerjee,
D. Baralle,
P. Batstone,
D. Baty,
C. Bennett,
J. Berg,
B. Bernhard,
A.P. Bevan,
E. Blair,
M. Blyth,
D. Bohanna,
L. Bourdon,
D. Bourn,
A. Brady,
E. Bragin,
C. Brewer,
L. Brueton,
K. Brunstrom,
S.J. Bumpstead,
D.J. Bunyan,
J. Burn,
J. Burton,
N. Canham,
B. Castle,
K. Chandler,
S. Clasper,
J. Clayton-Smith,
T. Cole,
A. Collins,
M.N. Collinson,
F. Connell,
N. Cooper,
H. Cox,
L. Cresswell,
G. Cross,
Y. Crow,
M. D’Alessandro,
T. Dabir,
R. Davidson,
S. Davies,
J. Dean,
C. Deshpande,
G. Devlin,
A. Dixit,
A. Dominiczak,
C. Donnelly,
D. Donnelly,
A. Douglas,
A. Duncan,
J. Eason,
S. Edkins,
S. Ellard,
P. Ellis,
F. Elmslie,
K. Evans,
S. Everest,
T. Fendick,
R. Fisher,
F. Flinter,
N. Foulds,
A. Fryer,
B. Fu,
C. Gardiner,
L. Gaunt,
N. Ghali,
R. Gibbons,
S.L. Gomes Pereira,
J. Goodship,
D. Goudie,
E. Gray,
P. Greene,
L. Greenhalgh,
L. Harrison,
R. Hawkins,
S. Hellens,
A. Henderson,
E. Hobson,
S. Holden,
S. Holder,
G. Hollingsworth,
T. Homfray,
M. Humphreys,
J. Hurst,
S. Ingram,
M. Irving,
J. Jarvis,
L. Jenkins,
D. Johnson,
D. Jones,
E. Jones,
D. Josifova,
S. Joss,
B. Kaemba,
S. Kazembe,
B. Kerr,
U. Kini,
E. Kinning,
G. Kirby,
C. Kirk,
E. Kivuva,
A. Kraus,
D. Kumar,
K. Lachlan,
W. Lam,
A. Lampe,
C. Langman,
M. Lees,
D. Lim,
G. Lowther,
S.A. Lynch,
A. Magee,
E. Maher,
S. Mansour,
K. Marks,
K. Martin,
U. Maye,
E. McCann,
V. McConnell,
M. McEntagart,
R. McGowan,
K. McKay,
S. McKee,
D.J. McMullan,
S. McNerlan,
S. Mehta,
K. Metcalfe,
E. Miles,
S. Mohammed,
T. Montgomery,
D. Moore,
S. Morgan,
A. Morris,
J. Morton,
H. Mugalaasi,
V. Murday,
L. Nevitt,
R. Newbury-Ecob,
A. Norman,
R. O’Shea,
C. Ogilvie,
S. Park,
M. J. Parker,
C. Patel,
J. Paterson,
S. Payne,
J. Phipps,
D.T. Pilz,
D. Porteous,
N. Pratt,
K. Prescott,
S. Price,
A. Pridham,
A. Procter,
H. Purnell,
N. Ragge,
J. Rankin,
L. Raymond,
D. Rice,
L. Robert,
E. Roberts,
G. Roberts,
J. Roberts,
P. Roberts,
A. Ross,
E. Rosser,
A. Saggar,
S. Samant,
R. Sandford,
A. Sarkar,
S. Schweiger,
C. Scott,
R. Scott,
A. Selby,
A. Seller,
C. Sequeira,
N. Shannon,
S. Sharif,
C. Shaw-Smith,
E. Shearing,
D. Shears,
I. Simonic,
D. Simpkin,
R. Singzon,
Z. Skitt,
A. Smith,
B. Smith,
K. Smith,
S. Smithson,
L. Sneddon,
M. Splitt,
M. Squires,
F. Stewart,
H. Stewart,
M. Suri,
V. Sutton,
G.J. Swaminathan,
E. Sweeney,
K. Tatton-Brown,
C. Taylor,
R. Taylor,
M. Tein,
I.K. Temple,
J. Thomson,
J. Tolmie,
A. Torokwa,
B. Treacy,
C. Turner,
P. Turnpenny,
C. Tysoe,
A. Vandersteen,
P. Vasudevan,
J. Vogt,
E. Wakeling,
D. Walker,
J. Waters,
A. Weber,
D. Wellesley,
M. Whiteford,
S. Widaa,
S. Wilcox,
D. Williams,
N. Williams,
G. Woods,
C. Wragg,
M. Wright,
F. Yang,
M. Yau,
N.P. Carter,
M. Parker,
H.V. Firth,
D.R. FitzPatrick,
C.F. Wright,
J.C. Barrett and
M.E. Hurles
Type: Article
| 2015
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes -
H.C. Mefford,
A.J. Sharp,
C. Baker,
A. Itsara,
Z. Jiang,
K. Buysse,
S. Huang,
V.K. Maloney,
J.A. Crolla,
D. Baralle,
A. Collins,
C. Mercer,
K. Norga,
T. De Ravel,
K. Devriendt,
E.M. Bongers,
N. De Leeuw,
W. Reardon,
S. Gimelli,
F. Bena,
R.C. Hennekam,
A. Male,
L. Gaunt,
J. Clayton-Smith,
I. Simonic,
S.M. Park,
S.G. Mehta,
S. Nik-Zainal,
C.G. Woods,
H.V. Firth,
G. Parkin,
M. Fichera,
S. Reitano,
M.L. Giudice,
K.E. Li,
I. Casuga,
A. Broomer,
B. Conrad,
M. Schwerzmann,
L. Raber,
S. Gallati,
P. Striano,
A. Coppola,
J.L. Tolmie,
E.S. Tobias,
C. Lilley,
L. Armengol,
Y. Spysschaert,
P. Verloo,
A. De Coene,
L. Goossens,
G. Mortier,
F. Speleman,
E. Van Binsbergen,
M.R. Nelen,
R. Hochstenbach,
M. Poot,
L. Gallagher,
M. Gill,
J. McClellan,
M.C. King,
R. Regan,
C. Skinner,
R.E. Stevenson,
S.E. Antonarakis,
C. Chen,
X. Estivill,
B. Menten,
G. Gimelli,
S. Gribble,
S. Schwartz,
J.S. Sutcliffe,
T. Walsh,
S.J. Knight,
J. Sebat,
C. Romano,
C.E. Schwartz,
J.A. Veltman,
B.B. De Vries,
J.R. Vermeesch,
J.C. Barber,
L. Willatt,
M. Tassabehji and
E.E. Eichler
Type: Article
| 2008
| Item not available on this server.
Type: Article
| 2004
| Item not available on this server.
Type: Article
| 2006
| Item not available on this server.
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome -
B.W. van Bon,
H.C. Mefford,
B. Menten,
A.J. Sharp,
W.M. Nillesen,
J.W. Innis,
T.J. de Ravel,
C.L. Mercer,
M. Fichera,
H. Steward,
L.E. Connell,
K. Ounap,
K. Lachlan,
B. Castle,
N. Van der An,
C. van Ravenswaaij,
M.A. Nobrego,
C. Serra-Juhe,
I. Simonic,
N. de Leeuw,
R. Pfundt,
E.M. Bongers,
C. Baker,
P. Finnemore,
S. Huang,
V.K. Maloney,
J.A. Crolla,
M. van Kalmthout,
M. Elia,
G. Vandeweyer,
J.P. Fryns,
S. Janssens,
N. Foulds,
S. Reitano,
K. Smith,
S. Parkel,
B. Loeys,
C.G. Woods,
A. Oostra,
F. Speleman,
A.C. Pereira,
A. Jurg,
L. Willatt,
S.J. Knight,
J.R. Vermeesch,
C. Romano,
J.C. Barber,
G. Mortier,
L.A. Perez-Jurado,
F. Kooy,
H.G. Brunner,
E.E. Eichler,
T. Kleefstra and
B.B. de Vries
Type: Article
| 2009
| Item not available on this server.
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