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30 research outputs found
Trisomy 13 mosaicism demonstrated only in skin fibroblasts in a patient presenting psychomotor retardation, pigmentary dysplasia and some dysmorphic features
Author
A.P.S. Ferreira
E.S. Ramos
+16 more
Flannery D.B.
Fujimoto A.
Hall J.C.
Happle R.
Happle R.
Hunter A.G.W.
Ishikawa T.
J.M. Pina-Neto
L.F. Mazzucatto
Miller C.A.
Ohashi H.
Pagon R.A.
Shih L.
Thomas I.T.
Turleau C.
Woods C.G.
Publication venue
'FapUNIFESP (SciELO)'
Publication date
01/01/1996
Field of study
Full text link
Crossref
The Coffin-Lowry Syndrome: Four New Cases In Three Families
Author
Coffin G.S.
Hunter A.G.W.
+5 more
Lowry B.
Merchant R.H.
Namikawa T.
Procopis P.G.
Smith D.W.
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
A family study of craniosynostosis, with probable recognition of a distinct syndrome.
Author
Aase J.M.
Baraitser M.
+17 more
Bartsocas C.S.
C O Carter
Cohen M.M.
Hunter A.G.W.
Hunter A.G.W.
K Till
Kopy§6 Z.
Naveh Y.
Noack M.
Pfeiffer R.A.
Pruzansky S.
R Coffey
Robinow M.
Smith D.
V Fraser
Vulliamy D.G.
Young I.D.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
A 'new' syndrome of mental retardation with characteristic facies and brachyphalangy.
Author
A G Hunter
C6te G.B.
+10 more
Edwards J.H.
F C Fraser
Hunter A.G.W.
McKusick V.A.
McPherson E.
N L Rudd
P J McAlpine
Poznanski A.K.
Villeverde M.M.
Wilson M.G.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Mosaic hexasomy 21.
Author
A Ketupanya
B F Crandall
+8 more
Cote G.B.
D W Rogers
Hassold T.
Hunter A.G.W.
Jabs E.W.
K Blanchard
Moedjono S.J.
Schinzel A.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Autosomal dominant trigonocephaly.
Author
Bergsma Malformationt Syndromesby D.
Chotzen F.
+14 more
Cohen M.M.
Escobar V.
Escobar V.
Hunter A.
Hunter A.
Hunter A.G.W.
Jackson C.E.
McKusick V.A.
Pfeiffer R.A.
Pfeiffer R.A.
Pruzansky S.
Sir Recent studies (Wynne Davies
V H Escobar
Vogt A.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Intrafamilial variation in Cohen syndrome.
Author
Cohen M.M.
Friedman E.
+8 more
Fryne J.P.
Goecke T.
Hunter A.G.W.
I D Young
J R Moore
MA North C.Patton
Norio R.
Resnick K.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Cranioectodermal dysplasia (Sensenbrenner's syndrome).
Author
Cohen M.M.
Freire-Maia N.
+9 more
Gellis S.S.
Hunter A.G.W.
I D Young
Levin L.S.
McKusick V.A.
McKusick V.A.
Sensenbrenner J.A.
Shapiro S.D.
Tipton R.E.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Magnetic Resonance Imaging in the Treatment of Congenital Dislocation of the Hip in Infants
Author
Azuma H.
Bamatter F.
+14 more
Exner G.U.
Exner G.U.
Fettweis E.
Graf R.
Guidera K.J.
Hensinger R.N.
Hunter A.G.W.
Johnson N.D.
Johnson N.D.
Lenz G.
Lorenz A.
Lorenz A.
Lorenz A.
Toby E.B.
Publication venue
'SAGE Publications'
Publication date
Field of study
No full text
Crossref
Pallister-Killian syndrome: Cytogenetic and biochemical studies
Author
A. Ketupanya
A.G.W. Hunter
+32 more
A.G.W. Hunter
D. Jaworek
D. Warburton
D.L. Dyke Van
D.T. Vine
F. Wroblewski
G.M. Homer
H. Kawashima
Hiroshi Kimoto
Hiroshi Namba
J.F. Reynolds
J.M. McCord
J.P. Fryns
Kei Hiramoto
Kiyoshi Kikkawa
Kouji Narahara
L.J. Raffel
M. Teschler-Nicola
M.L. Buyse
M.L. Kwee
Masae Murakami
O.H. Lowry
P. Peltomäki
P. Steinbach
P.D. Pallister
R.M. Pauli
Ryozou Kasai
S. Gilgenkrantz
T. Ikeuchi
T.E. Kelly
V. Lopes
Yoshiharu Wakita
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
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