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20 research outputs found

Community genetics. Its definition 2010

Author: Al-Gazali L.
Anand S.
Bittles A.
Cassiman J-J
Christianson A.
Cornel M.C.
Hamamy H.
Kate L.P.
Kristoffersson U.
Kääriäinen H.
Marais D.
Penchaszadeh V.B.
Rahman P.
Schmidtke J.
Publication venue: Springer Verlag
Publication date: 01/01/2010
Field of study

This paper presents a definition of the medical field of community genetics. It starts with a brief historical overview, defines the requirements for an adequate definition, presents the definition, and discusses the constituent parts of the definition

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Trisomy 22 mosaicism.

Author: Buhier E.M.
F Mollica
G Sorge
Hsu L.Y.F.
L Pavone
Penchaszadeh V.B.
Zackai E.
Zellweger H.
Publication venue: 'BMJ'
Publication date
Field of study

An apparent de novo terminal deletion of chromosome 2 (pter----p24:).

Author: D B Flannery
Emanuel B.S.
G L Francis
J R Byrd
Neidich J.
Penchaszadeh V.B.
S T Fisher
Publication venue: 'BMJ'
Publication date
Field of study

Dilemmas in counselling: the EEC syndrome.

Author: Bixler D.
I K Temple
K Tse
Kuster W.
Lewis M.B.
M Baraitser
Penchaszadeh V.B.
Pries C.
Rudiger R.A.
Publication venue: 'BMJ'
Publication date
Field of study

Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome.

Author: Bowen P.
Greene S.L.
J Christodoulou
Kuster W.
L J Sheffield
Lewis M.B.
London R.
Majewski F.
Ogur G.
Ohdo S.
P N McDougall
Penchaszadeh V.B.
Rudiger R.A.
Publication venue: 'BMJ'
Publication date
Field of study

EEC syndrome without ectrodactyly: report of two new families.

Author: A M Dereymaeker
Bixler D.
Brill C.B.
E Legius
Eckoldt J.G.
H Van den Berghe
J P Fryns
Kuster W.
Lurie IV, Lazyuk
Majewski F.
Penchaszadeh V.B.
Pfeiffer R.A.
Rudiger R.A.
Publication venue: 'BMJ'
Publication date
Field of study

Confirmation of trisomy 22 by trypsin-giemsa staining.

Author: Bass H.M.
chromosomes (Orye
D J Harris
de Gdnitique Humaine Journal
Goodman R.M.
Hirschhorn K.
Hsu L.Y.E.
M L Begleiter
P Kulkarni
Penchaszadeh V.B.
Seabright M.A.
Walbaum R.
Watson E.J.
Wilton
Zellweger H.
Publication venue: 'BMJ'
Publication date
Field of study

Macroglossia in acromegaly and hypothyroidism

Author: A. Rook
A.N. Domonkos
Aenne -Louise Wittmann
E.R. Weibel
G. Seifert
G. Seifert
G.M. Ardran
G.M. Ardran
G.M. Ardran
J.J. Sauk Jr.
K. Richter
M.B. Dockerty
M.M. Cohen Jr.
P.R. Rezek
R.D. Baker
R.M. Goodman
S.G. Kirchner
V.B. Penchaszadeh
W. Doerr
W.F. Lever
Publication venue: 'Springer Science and Business Media LLC'
Publication date: 01/01/1977
Field of study

Abnormal chromosome complement resulting from a familial inversion of chromosome 2.

Author: B Lockwood
Baccichetti C.
D Lockwood
Dennis N.R.
Djalali M.
Dutrillaux B.
Fryns J.P.
Giliberti P.
h MacDonald IM
Howard-Peebles P.N.
J Allanson
Laurent C.
Matteri M.S.
Neidich J.
Penchaszadeh V.B.
Phillips R.B.
Ricci N.
S Richter
Warren R.J.
Weitkamp L.R.
Wisniewski L.
Zabel B.
Zankl M.
Publication venue: 'BMJ'
Publication date
Field of study

Hydrocephalus in an infant with trisomy 22.

Author: Alfi O.S.
Antle C.M.
F Fahmi
Feret M.
Hassold T.
Isada N.B.
Iselius L.
Kaplan J.
Kim E.H.
Kobrynski L.
Kukolich M.K.
Lalchev S.
McKusick V.A.
McPherson E.
Penchaszadeh V.B.
Peterson M.B.
Phillipson J.
R G Hutcheon
S Schmerler
Shokeir M.H.K.
Sundareshan T.S.
Vohra K.
Voiculescu I.
Welter D.A.
Publication venue: 'BMJ'
Publication date
Field of study

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