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32 research outputs found

Delleman syndrome in a Brazilian boy

Author: Al-Gazali L.I.
Bleeker-Wagemakers
Brodsky M.C.
De Cock R.
Delleman J.W.
Ferguson J.W.
Giorgi P.L.
Gorlin R.J.
Happle R.
Hoo J.J.
Lauras B.
M.L. Guion-Almeida
N. M. Kokitsu-Nakata
Wilson R.D.
Publication venue: 'FapUNIFESP (SciELO)'
Publication date: 01/01/1996
Field of study

Interstitial duplication/deletion owing to unequal crossing-over in association with pericentric inversion.

Author: Einfeld S.L.
Hoo J.J.
J J Hoo
Publication venue: 'BMJ'
Publication date
Field of study

Hypotonic destruction uncovers chromosomal aberration

Author: B. Gr�newald
E. Undritz
J. Schröder
J. Schr�der
J.J. Hoo
L. Struck
Publication venue: 'Springer Science and Business Media LLC'
Publication date
Field of study

13q-/r(13) mosaicism.

Author: Bloom S.E.
Caspersson T.
F Tomiyasu
Hoo J.J.
N Niikawa
Niebuhr E.
Nielsen J.
Noel B.
Shaw M.W.
T Kajii
T Tamura
Verma R.S.
Yunis J.J.
Publication venue: 'BMJ'
Publication date
Field of study

Linear skin defects and congenital microphthalmia: a new syndrome at Xp22.2.

Author: Al-Gazali L.I.
Falek A.
Francke U.
Hodgson S.V.
Hoo J.J.
J Allanson
Lakshminarayana P.
S Richter
Sefiani A.
Temple I.K.
Wilson G.N.
Publication venue: 'BMJ'
Publication date
Field of study

Familial paracentric inversion of chromosome 15 (q15q24).

Author: A Pachi
Ayme S.
C De Matteis
E D'Alessandro
F Cappa
Fryns J.P.
Fryns J.P.
G Del Porto
Hoo J.J.
Jordan D.K.
M Baldi
R D'Innocenzo
Valc3rcel E.
Publication venue: 'BMJ'
Publication date
Field of study

Eleven new cases of del(9p) and features from 80 cases.

Interstitial deletion and ring chromosome derived from 16q.

Author: C M Krauss
D Caldwell
FF Lin C.C.Lowry R.B.Snyder
Fryns J.P.
Fryns J.P.
Harnden D.G.
Hoo J.J.
Ikeuchi T.
JM Rivera H.Vargas-Moyeda E.Moller M.Torrew-Lamas A.Cantu
L Atkins
LH F.F.B.Ferguson J.W.Lockhart
M Taysi K.Fishman
McClintock B.
Smith D.W.
Sumner A.T.
Yunis J.J.
Publication venue: 'BMJ'
Publication date
Field of study

Oculocerebrocutaneous Syndrome (Delleman Syndrome)

Author: A. Hunter
A.G. Hunter
B. Angle
H.E. Loggers
I. Pascual-Castroviejo
J. Landenheim
J.J. Hoo
J.W. Delleman
K.A. Tambe
L.G. Leichtman
L.I. Al-Gazali
M.A. Dollfus
R. Happle
R.C. Hennekam
R.J. Gorlin
S.E. McCandless
U. Moog
U. Moog
U. Moog
Publication venue: 'Springer Science and Business Media LLC'
Publication date: 01/01/2008
Field of study

Elongated mouse chromosomes suitable for enhanced molecular cytogenetics

Author: A. Rangarajan
B. Beatty
C. Johannes
E. Schollmayer
E. Schrock
George Klein
J. Lemke
J. Paoletti
J. Savill
J.J. Hoo
J.J. Yunis
J.J. Yunis
J.R. Sawyer
J.R. Sawyer
J.R. Sawyer
K. Benedek
Katalin Benedek
M. Liyanage
M.R. Speicher
Michael Mowat
N. Roy Van
R. Drouin
S. Mai
S. Mai
S. Mai
S. Zhang
S.W. Wijnhoven
Sabine Mai
Sherif Louis
T. Ikeuchi
T. Liehr
T. Tomiyasu
T. Ushiki
Publication venue: 'Springer Science and Business Media LLC'
Publication date
Field of study

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