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3 research outputs found

Complex chromosome rearrangement with ankyloblepharon filiforme adnatum.

Author: B G Kousseff
Fitzgerald M.G.
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

Constitutional ring chromosomes and tumour suppressor genes.

Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases.

Author: A T Tharapel
A Bresson J.L.Noir
Bateman J.B.
Carnevale A.
Cassidy S.B.
Coco R.
Cousineau A.J.
E K Pivnick
Engel E.
Faust J.
Felding I.
Feldman-Lewanda A.
Frank J.
Fryns J.P.
G V Velagaleti
Glover T.
Glover T.
Guc-Scekic M.
Hausmann C.
Helmuth R.A.
Hertz J.M.
Hyder D.M.
Jacobsen P.
JN Klep-De Pater
JO Van Hemel
Jones C.
Jones C.
Kaffe S.
Kaneko Y.
Knight S.
Larson S.A.
Laurent C.
Lee M.L.
Leonard C.
Linarelli G.P.
Lippe B.M.
M E Smith
McPherson E.
Meltzer P.S.
Miro R.A.
Monteleone P.L.
Mulcahy M.T.
Nancarrow J.
Neavel C.B.
Ngynen C.
O'Hare A.E.
Obregon M.G.
Ohno S.
Parrish J.E.
Penny L.A.
R E Tipton
R S Wilroy
Richards R.I.
Rose SR, Manasco
S R Rose
Schinzel A.
Schwartz C.
Sirota L.
Stratton R.F.
Sutherland G.R.
Taillemite J.L.
Valente M.
Voullaire L.E.
Wakazono A.
Wardinsky T.D.
Zabel B.
Publication venue: 'BMJ'
Publication date
Field of study

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