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CNKI学位论文(2)
知网期刊论文(15)
在“
Elsevier电子期刊
”中,
命中:
22
条,耗时:0.0159938 秒
在所有数据库中总计命中:
17
条
1.
Pallister
-
Killian
syndrome
: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis
作者:
Francesco Libotte
a
;
Domenico Bizzoco
a
;
Ivan Gabrielli
a
;
Alvaro Mesoraca
a
;
Pietro Cignini
b
;
Salvatore Giovanni Vitale
c
;
vitalesalvatore@hotmail.com
;
Ilaria Marilli
d
;
Ferdinando Antonio Gulino
d
;
Agnese Maria Chiara Rapisarda
d
;
Claudio Giorlandino
b
关键词:
cytogenetic analysis
;
isochromosome 12p
;
Pallister
&ndash
;
Killian
syndrome
;
prenatal diagnosis
;
tetrasomy 12p
刊名:Taiwanese Journal of Obstetrics and Gynecology
出版年:2016
2.
Syndrome
de
Pallister
-
Killian
: confrontation des données prénatales et fœtopathologiques de six cas et revue de la littérature
作者:
D. Desseauve
a
;
david.desseauve@univ-poitiers.fr" class="auth_mail" title="E-mail the corresponding author
;
M. Legendre
b
;
M. Dugué
;
-Maré
;
chaud
a
;
V. Vequeau-Goua
a
;
F. Pierre
a
关键词:
Pallister
-
Killian
;
Diagnostic
;
Anté
;
natal
;
F&oelig
;
topathologie
刊名:Gynecology Obstetrique & Fertilite
出版年:2016
3.
Épilepsie dans les aberrations chromosomiques
作者:
Wala Souissi
;
Hedia Klaa
;
hedia.klaa@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Aida Rouissi
;
Hanene Benrhouma
;
Nadia Ben Achour
;
Ichraf Kraoua
;
Ilhem Turki
关键词:
É
;
pilepsie
;
Chromosomique
;
Aberration
刊名:Revue Neurologique
出版年:2016
4.
Clinical and radiological findings in
Pallister
-
Killian
syndrome
作者:
Saumya Jamuar
a
;
b
;
c
;
saumya.jamuar@childrens.harvard.edu
;
saumya@hotmail.com
;
Angeline Lai
a
;
Sheila Unger
d
;
Gen Nishimura
e
关键词:
Pallister
&ndash
;
Killian
syndrome
;
Mosaic tetrasomy 12p
;
Isochromosome 12p
syndrome
;
Skeletal anomalies
;
Aortic dilatation
刊名:European Journal of Medical Genetics
出版年:2012
5.
Occurrence and clinical features of epileptic and non-epileptic paroxysmal events in five children with
Pallister
-
Killian
syndrome
作者:
Francis M. Filloux
a
;
francis.filloux@hsc.utah.edu
;
John C. Carey
b
;
john.carey@hsc.utah.edu
;
Ian D. Krantz
c
;
Ian2@mail.med.upenn.edu
;
Jeffrey J. Ekstrand
a
;
jeffrey.ekstrand@hsc.utah.edu
;
Meghan S. Candee
a
;
meghan.candee@hsc.utah.edu
关键词:
Pallister
&ndash
;
Killian
syndrome
;
12p tetrasomy
;
Isochromosome 12p
;
Epilepsy
;
Non-epileptic paroxysmal events
;
Seizure semiology
;
Mosaicism
刊名:European Journal of Medical Genetics
出版年:2012
6.
Seizures and EEG patterns in
Pallister
-
Killian
syndrome
: 13?New Italian patients
作者:
Lucio Giordano
;
Maurizio Viri
;
Renato Borgatti
;
Monica Lodi
;
Patrizia Accorsi
;
Francesca Faravelli
;
Maria Chiara Ferretti
;
Rita Grasso
;
Luigi Memo
;
Silvia Prola
;
Dario Pruna
;
Margherita Santucci
;
Salvatore Savasta
;
Alberto Verrotti
;
Antonino Romeo
关键词:
Pallister
&ndash
;
Killian
syndrome
;
Mental retardation
;
Epilepsy
;
Epileptic spasms
;
Focal epilepsy
;
Tetrasomy 12 p
刊名:European Journal of Paediatric Neurology
出版年:2012
7.
Analyse fonctionnelle des comportements de pica d¡¯un enfant pr¨¦sentant un
syndrome
de
pallister
killian
associe ¨¤ un autisme
作者:
F. Ayanouglou
;
;
;
fannylunelviel@aol.com
;
;
f-ayanouglou@chu-montpellier.fr
;
E. Pernon
;
A. Dubois
;
R. Pry
;
A. Baghdadli
关键词:
Pica
;
Functional assessment
;
Mental retardation
;
Autism
;
Pallister
-
Killian
syndrome
刊名:Neuropsychiatrie de l'enfance et de l'adolescence
出版年:2011
8.
Phenotypic overlapping of trisomy 12p and
Pallister
–
Killian
syndrome
作者:
Eisuke Inage
;
Mitsuyoshi Suzuki
;
Kei Minowa
;
Nahoko Akimoto
;
Ken Hisata
;
Hiromichi Shoji
;
Akihisa Okumura
;
Keiko Shimojima
;
Toshiaki Shimizu
;
Toshiyuki Yamamoto
关键词:
Chromosome 12
;
Chromosome 14
;
12p trisomy
;
Supernumerary marker chromosome
;
Microarray-based comparative genomic hybridization (array CGH)
;
Pallister
–
;
Killian
syndrome
刊名:European Journal of Medical Genetics
出版年:2010
9.
Prenatal Sonographic Features of
Pallister
-
Killian
Syndrome
作者:
Chih-Ping Chen
;
Shu-Chin Chien
关键词:
Pallister
-
Killian
syndrome
;
prenatal ultrasound
刊名:Journal of Medical Ultrasound
出版年:2010
10.
Pallister
-
Killian
syndrome
: a report of 2 cases and review of its surgical aspects
作者:
Maciej Baglaj
;
Juliette King
;
Robert Carachi
关键词:
Pallister
-
Killian
syndrome
;
Tetrasomy
;
Malrotation
;
Imperforate anus
刊名:Journal of Pediatric Surgery
出版年:2008
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