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7 research outputs found

Mosaic cat eye syndrome in a child with unilateral iris coloboma

Author: Berends MJ
Jedraszak G
Liehr T
Noel B
Rosias PR
Publication venue: 'Informa UK Limited'
Publication date
Field of study

Rare otologic presentation of cat eye syndrome

Author: Berends MJ
Latifah Alamer
Musaed Alzahrani
Rami Alhazmi
Rosias PR
Shaksi Bassant
Publication venue: 'King Faisal Specialist Hospital and Research Centre'
Publication date
Field of study

Atypical presentation of Cat Eye Syndrome in an infant with Peters anomaly and microphthalmia with cyst

Author: Antle CM
Berends MJ
Hamal D
Holland L
Mears AJ
Rosias PR
Publication venue: 'Informa UK Limited'
Publication date
Field of study

Phenotypic characterization of derivative 22 syndrome: case series and review

Author: AE Lin
Deepti Saxena
EH Zackai
H Kurahashi
JA Crolla
JA Vorstman
JW Hou
Kausik Mandal
M Agarwal
M Fraccaro
Moni Tuteja
PR Rosias
Priyanka Srivastava
R Pallotta
S Kapoor
Shubha R Phadke
T Ohye
TS Glaser
Publication venue: 'Springer Science and Business Media LLC'
Publication date
Field of study

Association of Anterior Glottic Webs with Velocardiofacial Syndrome (Chromosome 22q11.2 Deletion)

Author: Bofinger MK
Burn J
Carlson C
Cuneo BF
Djyce O
Driscoll DA
Emanual BS
Fokstuen S
Leana-Cox J
Marble M
McDonald-McGinn DM
McElhinney DB
Ravnan JB
Rosias PR
Shprintzen RJ
Stoler JM
Vantrappen G
Publication venue: 'Elsevier BV'
Publication date
Field of study

Collecting Protein Biomarkers in Breath Using Electret Filters: A Preliminary Method on New Technical Model and Human Study

Author: A Amann
A Bredberg
A Krilaviciute
A Smolinska
AC Almstrand
AR Koczulla
C Kanaoka
C Ward
CI Fairchild
CS Wang
D Verreault
E Sapey
GH Wan
GM Mutlu
H Holmgren
Hongying Liu
I Horvath
J Liu
JH Ji
JH McKenzie
JH Park
JH Park
K Pocino
L Morawska
M Grunnet
M Phillips
M Phillips
P Fabian
P Fabian
P Larsson
Panpan Qiao
PJ Mazzone
PP Rosias
PR Phipps
Reza Khodarahmi
RM Effros
S Stelzer-Braid
SM Gordon
W Miekisch
Wang Li
WY Zhu
Xitian Pi
Y Otani
YH Khor
YY Broza
YY Broza
Publication venue: 'Public Library of Science (PLoS)'
Publication date
Field of study

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene

Author: A Kong
A McKenna
A Vivante
A Vivante
Alyssa A. Riley
Angela Myers
Arundhati S. Kale
B Yuan
C Gonzaga-Jauregui
C Gonzaga-Jauregui
Carolyn D. Applegate
Christine Eng
D Challis
Daryl A. Scott
David R. Roth
Dolores J. Lamb
Donna M. Muzny
DY Hwang
E Karaca
E Sollis
Edmond T. Gonzales
Eileen D. Brewer
Ewa Elenberg
FF Hamdan
HM Kearney
J Knijnenburg
James R. Lupski
Jill A. Rosenfeld
Joann Bodurtha
John W. Belmont
JW Groothoff
K Retterer
K Wang
KE McTaggart
Lior Borovik
M Barua
M Verbitsky
Matthew N. Bainbridge
MF Wangler
Michael C. Braun
Milen Velinov
Mini Michael
Mir Reza Bekheirnia
N Krumm
N Nicolaou
Nasim Bekheirnia
Neil A. Hanchard
Nicolette K. Janzen
O Mansoor
P Saisawat
Poyyapakkam R. Srivaths
PR Rosias
Richard A. Gibbs
Richard Alan Lewis
S Richards
S Sanna-Cherchi
S Sanna-Cherchi
S Sanna-Cherchi
Sarah J. Swartz
Scott E. Wenderfer
Shalini N. Jhangiani
Shen Gu
SW Chang
TL Stockley
Tomek Gambin
W McLaren
W Shu
William J. Craigen
X Liu
Y Jiang
Y Yang
Y Yang
Yaping Yang
Zeynep Hande Coban Akdemir
Publication venue: 'Springer Science and Business Media LLC'
Publication date
Field of study

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