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19 research outputs found

Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion

Author: Ali
Ali
Ali
Ali
Ali
Antonorakis
Blom
Brooks
Brooks
Catto-Smith
Choi
Choi
Choi
Coffee
Cox
Cross
Cross
Cross
Cross
Dalby
Davit-Spraul
Dazzo
Dursun
Esposito
Esposito
Esposito
Esposito
Gruchota
Hutchinson
James
Jones
Kajihara
Kriegshäuser
Kullberg-Lindh
Laskowski
Malay
Miller
Pezza
Rellos
Salvatore
Sanchez-Gutierrez
Santamaria
Santamaria
Santamaria
Santamaria
Santer
Sherawat
St-Jean
St-Jean
Steinmann
Steinmann
Stenson
Toffolatti
Tolan
Van Der Spoel
Publication venue: 'Wiley'
Publication date
Field of study

The utility of a HindIII polymorphism of factor VIII examined by rapid DNA analysis

Author: Antonorakis S.E.
Graham J.B.
Graham J.B.
Graham J.B.
Kogan S.C.
Levinson B.
Lubahn D.B.
Publication venue: 'Wiley'
Publication date
Field of study

Sequence variation database project at the European Bioinformatics Institute

Author: Antonorakis
Béroud
Cotton
Cotton
Etzold
Hainaut
Hamosh
Lehväslaiho
Maurer
Maurer
McKusick
Scriver
Scriver
Sherry
Soussi
Publication venue
Publication date
Field of study

Maternal serum screening in cases of mosaic and translocation Down syndrome

Author: Antonorakis
Brizot
Casado
Cole
Cuckle
Devlin
Frendo
Gardner
Massin
Muller
Muller
Mutton
Muyan
Pidoux
Schinzel
Smith-Bindman
Vintzileos
Publication venue: 'Wiley'
Publication date
Field of study

PGD and aneuploidy screening for 24 chromosomes: advantages and disadvantages of competing platforms

Author: A. Bisignano
Antonorakis
Antonorakis
Clark
Cohen
D. Wells
De Vos
Estop
Excoffier
Fragouli
Fragouli
Fragouli
G. Harton
Gitschier
Gutiérrez-Mateo
Handyside
Hassold
Johnson
Kuliev
Kuwayama
Lamb
Ledbetter
Marchini
Martin
Martin
Martin
Munné
Munné
Munné
Pellestor
Pellestor
Roberson
Robinson
S. Munné
Schoolcraft
Scott
Sher
Stachecki
Stephens
Treff
Wells
Wells
Wilton
Wirtenberger
Zaragoza
Publication venue: 'Elsevier BV'
Publication date
Field of study

Molecular Markers in the Genetic Improvement of Farm Animals

Serveur académique lausannois

Cytogénétique prénatale

Author: Antonorakis
Bender
Benn
Benn
Briard
Chang
Eggermann
Gardner
Gardner
Hassold
Hassold
Hsu
Hsu
Hsu
Kallioniemi
Kirsch
Milunsky
Mitelman
Morichon-Delvallez
Morichon-Delvallez
Robinson
Robinson
Romana
Schinzel
Solinas-Toldo
Spence
Wallerstein
Warburton
Warburton
Publication venue: 'Elsevier BV'
Publication date
Field of study

Citogenética prenatal

Author: Antonorakis
Bender
Benn
Benn
Briard
Chang
Eggermann
Gardner
Gardner
Hassold
Hassold
Hsu
Hsu
Hsu
Kallioniemi
Kirsch
Milunsky
Mitelman
Morichon-Delvallez
Morichon-Delvallez
Robinson
Robinson
Romana
Schinzel
Solinas-Toldo
Spence
Wallerstein
Warburton
Warburton
Publication venue: 'Elsevier BV'
Publication date
Field of study

The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4

Author: Alvarez
Angelicheva
Angelicheva
Antonorakis
Callen
Combarros
Desviat
Dyck
Gooding
Gresham
Hantke
Harding
Kalanin
Kalaydjieva
Kalaydjieva
Kalaydjieva
Kalaydjieva
Kalaydjieva
Lathrop
Morar
Namekawa
Rannala
Rannala
Reeve
Rogers
Senderek
Skre
Slatkin
Sorensen
Thomas
Tournev
Vallat
Varon
Vilchez
Publication venue: 'Wiley'
Publication date
Field of study

Molecular Markers in the Genetic Improvement of Farm Animals

Author: Andersson L.
Antonorakis S.E.
Antonorakis S.E.
Beckmann J.S.
Beckmann J.S.
Beckmann J.S.
Beckmann J.S.
Bernatzky R.
Botstein D.
Chardon P.
Chardon P.
Chardon P.
Crittenden L.B.
Geever R.F.
Geldermann H.
Geldermann H.
Grodzicker T.
Helentjaris R.
Jeffreys A.J.
Kazazian H.H.
Lebowitz R.
Little F.P.R.
Murray J.C.
Nicholas F.W.
Owen J.B.
Rando A.
Smith C.
Smith C.
Soller M.
Soller M.
Soller M.
Soller M.
Soller M.
Soller M.
Soller M.
Tanksley S.D.
Tanksley S.D.
Vaiman M.
Publication venue: 'Springer Science and Business Media LLC'
Publication date
Field of study

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