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20 research outputs found
Complex chromosome rearrangement with ankyloblepharon filiforme adnatum.
Author
B G Kousseff
Fitzgerald M.G.
+13 more
Fitzgerald P.H.
Genet Jrpn J.Hum
Hansteen I.L.
Kleczkowska A.
Kousseff B.G.
Kousseff B.G.
M P Torres
Ozanics V.
P Papenhausen
Pai G.S.
Voullaire L.E.
Weiss A.H.
Y P Essig
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Schistosoma reflexum in a cat: Insights into aetiopathogenesis
Author
Bezek D.M.
Cantrell J.R.
+4 more
Kawata K.
Kousseff B.G.
Russo R.
Saperstein G.
Publication venue
'Elsevier BV'
Publication date
Field of study
No full text
Crossref
Canine fucosidosis: clinical findings
Author
Abraham D.
Barranger J.A.
+10 more
Durand P.
Friend S.C.E.
Healy P.J.
Herrtage M.E.
Hers H.G.
Hugh-Jonfs K.
Kousseff B.G.
Littlewood J.D.
Swallow J.S.
Taylor R.M.
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
A lethal presentation of de novo deletion 7q.
Author
A Leff
Boue J.G.
+9 more
Gardner L.I.
Harris E.L.
I R Toth
Kousseff B.G.
L E McMorrow
M M Gluckson
Morton N.E.
S R Wolman
Young R.S.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
7qter deletion with normal Hageman factor
Author
B. Biederman
B.G. Kousseff
+12 more
C. Turleau
E.L. Harris
E.L. Harris
H.J. Evans
Hiroko Kawashima
J. Grouchy De
J. Grouchy De
M.H.K. Shokeir
Noboru Taniguchi
R. Bernstein
U. Fancke
U. Friedrich
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Freeman-Sheldon syndrome: a disorder of congenital myopathic origin?
Author
Dubowitz V.
F Losan
+13 more
Grasshoff H.
izka J
J Janda
J Vanek
Kousseff B.G.
MacLeod P.
Rinsky L.A.
Sauk J.J.
Sharma R.N.
Swash M.
V Amblerova
Weinstein S.
Wettstein A.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Complex chromosome rearrangements: Report of three patients
Author
A. Kleczkowska
B.G. Kousseff
+14 more
F. Hecht
F. Hecht
F. Prieto
G.S. Pai
Kyohko Abe
L. McGavran
N. Niikawa
Norio Niikawa
Sei Lee-Okimoto
Tadashi Mastumoto
Tsutomu Kamei
W.D. Loughman
Y. Fukushima
Yasushi Yamada
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Familial four breakpoint complex chromosomal rearrangement as a cause of monosomy 9p22-->pter and trisomy 10p11.2-->pter and 11q21 analysed by dual and triple colour FISH.
Author
Batista D.A.S.
E Bocian
+16 more
E Kostyk
E Piatkowska
H Stanczak
J J Pietrzyk
J Parczewska
Kleczkowska A.
Kousseff B.G.
P Stankiewicz
Pai G.S.
Pinkel D.
Schinzel A.
Schinzel A.
Spikes A.S.
Sullivan B.A.
T Mazurczak
Wang H.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Two cases with different deletions of the long arm of chromosome 7.
Author
Ayraud N.
Biederman B.
+14 more
C M de Vries-Ekkers
De Grouchy J.
De Grouchy J.
E M Bleeker-Wagemakers
Gallimore P.H.
H F de France
Harris E.L.
Higginson G.
J B Bijlsma
J M Klep-de Pater
Kousseff B.G.
Sehested J.
Shokeir M.H.K.
Valentine H.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
A case with a terminal deletion of the long arm of chromosome 7
Author
Akiko Hirano
B. Biederman
+22 more
B.G. Kousseff
C. Turleau
E.L. Harris
G. Higginson
H. Valentine
Hideo Inoue
Hiroshi Kimoto
Hiroshi Yabuuchi
J. Grouchy de
J. Grouchy de
J.M. Klep-de Pater
K.B. Nielsen
Kouji Narahara
M. Seabright
M.A. Crawfurd
M.H.K. Shokeir
N. Ayraud
P. Franceschini
R. Bernstein
Shunsuke Kimura
U. Francke
Yoshifumi Kodama
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
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