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23 research outputs found
Clinical and Molecular Characterization of Patients with Distal I I q Deletions
Author
Boris Kousseff &apos
Christopher Cunniff
+14 more
Elizabeth Grace
Glen A Evans2-
James Syme
Jean-Pierre Fryns
Joann Bergoffen
John M Graham Jr
Julie Zenger-Hain &apos
Laura A Penny
Leopoldo Zelante &apos
Lucille Voullaire &apos
Marie Dell&apos
Marilyn C Jones
Oliver W Jones
Teresa Mattina "
Publication venue
Publication date
01/01/1995
Field of study
Get PDF
CiteSeerX
The impact of maternal serum screening programs for Down syndrome in southeast Michigan, 1988-2003.
Author
Al Saadi AA
Ebrahim SA
+6 more
Micale MA
Powell SA
Van Dyke DL
Wiktor AE
Zenger-Hain JL
Zou YS
Publication venue
'Wiley'
Publication date
01/01/2007
Field of study
No full text
Crossref
LSHTM Research Online
Four new cases of inverted terminal duplication: A modified hypothesis of mechanism of origin
Author
Brøndum-Nielson
Crandall
+10 more
Dahoun-Hadorn
Flint
Hobart
Pfeiffer
Shimizu
Tuck-Muller
Van Dyke
Wilkie
Yu
Zenger-Hain
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
Severe phenotypes associated with inactive ring X chromosomes
Author
Allen
Dennis
+15 more
Engelen
Jani
Kushnick
Lafreniere
Migeon
Migeon
Migeon
Migeon
Sybert
Van Dyke
Van Dyke
Walker
Wolff
Yorifuji
Zenger-Hain
Publication venue
'Wiley'
Publication date
01/01/2000
Field of study
No full text
Crossref
Developmental delay and growth failure caused by a peroxisomal disorder, dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency
Author
Barr
Bjorkhem
+16 more
Clayton
Curry
Goldfischer
Hoefler
Lazarow
Mandel
Moser
Moser
Moser
Poll-The
Roscher
Spranger
Tager
Wanders
Webber
Zenger-Hain
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
Rapid array-based genomic characterization of a subtle structural abnormality: A patient with psychosis and der(18)t(5;18)(p14.1;p11.23)
Author
Babovic-Vuksanovic
Bolton
+19 more
Brzustowicz
Chen
Chia
Cowell
Huang
Jamain
Kennedy
Lichter
Malaspina
McInnes
Paul
Rigola
Schwab
Sebat
Segurado
Tsukahara
Webb
Zenger-Hain
Zhao
Publication venue
'Wiley'
Publication date
01/01/2005
Field of study
No full text
Crossref
How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT
Author
Adzhubei
Aran
+20 more
Arredondo
Bauché
Bisgaard
Byring
Eiden
Engel
Ghai
Holden
Kirchhoff
Kraner
Kumar
Lobo
Lorenzoni
Mallory
Maselli
O'Grady
Ohno
Schara
Stankiewicz
Zenger-Hain
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
10p Duplication characterized by fluorescence in situ hybridization
Author
Callen
Delaroche
+17 more
Farge
Gonzalez
Herva
Insley
Lansky-Shafer
Lapierre
Nass
Ohba
Plattner
Schwartz
Sullivan
Synder
Van Dyke
Van Wouwe
Warburton
Yip
Zenger-Hain
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
A non-sex chromosome marker in a patient with an atypical Ullrich-Turner phenotype and mosaicism of 46,X,mar/46,XX
Author
A Bent-Williams
BA Gray
+17 more
Chudoba
Cole
Crolla
Crolla
DJ Wolff
Grompe
Kleczkowska
Krasna
Migeon
Patsalis
RT Zori
Schwartz
Turner
Van Dyke
Viersbach
Wolff
Zenger-Hain
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
Supernumerary marker chromosomes 5: Confirmation of a critical region and resultant phenotype
Author
Anderlid
Avansino
+24 more
Barch
Brimblecombe
Carnevale
Chapman
Chia
Crolla
Engel
Gallo
Gustavson
Hastings
Kleczkowska
Lejeune
Lorda-Sanchez
Masuno
Reichenbach
Rethore
Seabright
Stankiewicz
Sumner
Viersbach
Vowles
Yunis
Zabel
Zenger-Hain
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
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