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6 research outputs found
A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency
Author
A Domogatskaya
AA Kashevarova
+21 more
C Occella
Cristina Meazza
CY Yeung
DA Pillers
Deepak Babu
H Yamashita
HG Artman
KA Aldinger
L Rodgers
L Taine
M Balasubramanian
M Hasi-Zogaj
Mara Giordano
Mauro Bozzola
MF Portnoï
MM Edwards
MM Edwards
S Girirajan
V Tonk
Valentina Muratore
X Li
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
Full text link
Crossref
Rheumatoid arthritis in an adult patient with mosaic distal 18q-, 18p- and dicentric ring chromosome 18
Author
A Kline
J Cobb
+17 more
J Cody
L Caba
L Francisco
M Czakó
M Hasi-Zogaj
M Recalcati
M Schwaiblmair
N Jain
P Rosen
R Guilherme
R Petty
S Finley
S Prahalad
T Bongartz
T Merriman
U Hansen
Y Okada
Publication venue
'F1000 Research Ltd'
Publication date
Field of study
No full text
Crossref
Rheumatoid arthritis in an adult patient with mosaic distal 18q-, 18p- and ring chromosome 18
Author
A Kline
G Kosztolányi
+20 more
H Rajesh
J Cobb
J Cody
L Caba
L Francisco
M Czakó
M Hasi-Zogaj
M Recalcati
M Schwaiblmair
N Jain
P Rosen
R Guilherme
R Laursen
R Petty
S Finley
S Prahalad
T Bongartz
T Merriman
U Hansen
Y Okada
Publication venue
'F1000 Research Ltd'
Publication date
Field of study
No full text
Crossref
Intellectual, adaptive and behavioural characteristics in four patients with 18p deletion syndrome
Author
Babovic‐Vuksanovic D.
Bordin I. S.
+17 more
Brito N. H.
Diamond A.
Esposito F.
Hasi‐Zogaj M.
Myers K. A.
Nascimento E.
Noble K. G.
Paiva G. F. S.
Piccolo L. R.
Ross J.
Sameroff A. J.
Sebold C.
Sparrow S. S.
Thompson E. A.
Wester U.
Willoughby B. L.
Zavala J.
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing
Author
A Srinivasan
C Deng
+27 more
C Turleau
Conghui Wang
CP Chen
CP Chen
D Liang
FR Grati
G Fogu
G Pescia
Ganye Zhao
H Hu
H Qi
J Wang
L Nshimyumukiza
Lina Liu
M Hasi-Zogaj
MA Allyse
Peng Dai
RJ Lemmers
RJ Wapner
RV Lebo
Shanshan Gao
W Sepulveda
Xiangdong Kong
Xuechao Zhao
Y Xu
Z Yi
Z Yin
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Ectodermal Dysplasia and Anodontia associated with Ring Chromosome 18
Author
Carter E Heard P, Hasi M, Soileau B, Sebold C, Hale DE, Cody JD.
Cody JD Sebold C, Heard P, Carter E, Soileau B, Hasi-Zogaj M, Hill A, Rupert D, Perry B, O'Donnell L, et al.
+23 more
Cremers CW.
Feenstra I Vissers LE, Pennings RJ, Nillessen W, Pfundt R, Kunst HP, Admiraal RJ, Veltman JA, van Ravenswaaij-Arts CM, Brunner HG, et al.
Giansanti JS Long SM, Rankin JL.
Glick M.
Gorlin RJ.
Gropp A Jussen A, Ofteringer K.
Heard PL Carter EM, Crandall AC, Sebold C, Hale DE, Cody JD.
Heydari S Hassanzadeh F, Hassanzadeh Nazarabadi M.
Litzman J Brysová V, Gaillyová R, Thon V, Pijácková A, Michalová K, Zemanová Z, Lokaj J.
McDonald RE.
McGrath JA McMillan JR, Shemanko CS, Runswick SK, Leigh IM, Lane EB, Garrod DR, Eady RA.
Monreal AW Zonana J, Ferguson B.
Patil S Rao RS, Majumdar B.
Pilo R Kaffe I, Amir E, Sarnat H.
Pitt D Hopkins I.
Rajendran R.
Samli H Özgöz A, Içduygu FM, Hekimler K, Sıvacı Y, İmirzalıoğlu N.
Santra M Talukder G, Sharma A.
Schneider PE.
Shaffer LG.
Verma N Bansal A, Tyagi P, Nashine N, Kulkarni A, Gupta A.
Vincent MC Biancalana V, Ginisty D, Mandel JL, Calvas P.
Yao H Yang C, Huang X, Yang L, Zhao W, Yin D, Qin Y, Mu F, Liu L, Tian P, et al.
Publication venue
'Jaypee Brothers Medical Publishing'
Publication date
Field of study
No full text
Crossref