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Wiley电子期刊(1)	SpringerLink电子期刊(25)	Elsevier电子期刊(40)
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在“Elsevier电子期刊”中，命中：40条，耗时：小于0.01 秒

在所有数据库中总计命中：69条

1.Late-onset epileptic spasms in a patient with 22q13.3 deletion syndrome

作者：Nobutsune Ishikawa^a ; ^b ; ^{ishikan@hiroshima-u.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Yoshiyuki Kobayashi^a ; ^b ; Yuji Fujii^a ; ^b ; Toshiyuki Yamamoto^c ; Masao Kobayashi^a

关键词：22q13.3 deletion ; Epileptic spasms ; SHANK3 ; Lennox&ndash ; Gastaut syndrome ; Topiramate

刊名：Brain and Development

出版年：2016

2.Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability

作者：Rania Naoufal^a ; ^{rania.naoufal@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Marine Legendre^a ; ^b ; Dominique Couet^a ; ^b ; Brigitte Gilbert-Dussardier^a ; ^b ; Alain Kitzis^a ; ^b ; Frederic Bilan^a ; ^b ; Radu Harbuz^a ; ^b

关键词：DD/ID ; CGH ; Mosaic trisomy 22 ; 22q13 microdeletion syndrome

刊名：European Journal of Medical Genetics

出版年：2016

3.Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor

作者：Jeroen Breckpot^a ; ¹ ; Marieke Vercruyssen^b ; ¹ ; Eddy Weyts^c ; Sean Vandevoort^c ; Greet D'Haenens^c ; Griet Van Buggenhout^a ; Lore Leempoels^b ; Elise Brischoux-Boucher^d ; Lionel Van Maldergem^d ; Alessandra Renieri^e ; ^f ; Maria Antonietta Mencarelli^f ; Carla D'Angelo^g ; Veronica Mericq^h ; Mariette J. Hofferⁱ ; Maithé ; Tauber^j ; Catherine Molinas^j ; ^{molinas.c@chu-toulouse.fr" class="auth_mail" title="E-mail the corresponding author} ; Claudia Castiglioni^k ; Nathalie Brison^a ; Joris R. Vermeesch^a ; Marina Danckaerts^b ; Pascal Sienaert^b ; Koenraad Devriendt^a ; Annick Vogels^a ; ^{annick.vogels@uzleuven.be" class="auth_mail" title="E-mail the corresponding author}

关键词：Catatonia ; Psychiatric disorder ; SHANK3 ; 14q11.2 duplication ; SUPT16H

刊名：European Journal of Medical Genetics

出版年：2016

4.22q13 deletion syndrome in a fetus associated with microtia, hemivertebrae, and congenital heart defects on prenatal ultrasound

作者：Chih-Ping Chen^a ; ^b ; ^c ; ^d ; ^e ; ^f ; ^{cpc_mmh@yahoo.com" class="auth_mail" title="E-mail the corresponding author} ; Tung-Yao Chang^g ; Liang-Kai Wang^a ; Schu-Rern Chern^b ; Peih-Shan Wu^h ; Yen-Ni Chen^a ; Shin-Wen Chen^a ; Wen-Lin Chen^a ; Wayseen Wang^b ; ⁱ

刊名：Taiwanese Journal of Obstetrics and Gynecology

出版年：2016

5.Heterozygous deletion at the SOX10 gene locus in two patients from a Chinese family with Waardenburg syndrome type II

作者：He Wenzhi^a ; ¹ ; Wen Ruijin^b ; ¹ ; Li Jieliang^a ; ² ; Ma Xiaoyan^a ; Liu Haibo^a ; Wang Xiaoman^a ; Xian Jiajia^a ; Li Shaoying^a ; Li Shuanglin^a ; Li Qing^a ; ^{81292522@163.com" class="auth_mail" title="E-mail the corresponding author}

关键词：Hearing impairment ; Waardenburg syndrome (WS) ; SOX10 gene ; Heterozygous deletion

刊名：International Journal of Pediatric Otorhinolaryngology

出版年：2015

6.PP05.9 - 2366: Neurodevelopmental and immunological features in a child presenting 22q13.2 microdeletion

作者：S. Thü ; mmler ; F. Giuliano ; H. Karmous-Benailly ; C. Richelme ; C. De Georges ; F. Askenazy

刊名：European Journal of Paediatric Neurology

出版年：2015

7.PP11.11 - 2673: Phelan-McDermid syndrome in two siblings with complex phenotype

作者：M. Budisteanu ; A. Tutulan-Cunita ; S.M. Papuc ; I. Focsa ; S. Vultur ; A. Arghir ; R. Grozavescu

刊名：European Journal of Paediatric Neurology

出版年：2015

8.Emotion regulation and development in children with autism and 22q13 Deletion Syndrome: Evidence for group differences

作者：Sarah E. Glaser ; ^a ; ^{sarah.glaser@mail.mcgill.ca} ; Steven R. Shaw^a

关键词：Autism ; 22q13 Deletion Syndrome ; Emotion regulation ; Social– ; emotional development ; Intellectual disabilities

刊名：Research in Autism Spectrum Disorders

出版年：2011

9.SHANK3 as an autism spectrum disorder-associated gene

作者：Shigeo Uchino ; ^{uchino@ncnp.go.jp} ; Chikako Waga¹

关键词：Autism spectrum disorder ; SHANK3 ; 22q13.3 Deletion syndrome ; DNA methylation ; Synapse

刊名：Brain and Development

出版年：2013

10.Bipolar affective disorder and early dementia onset in a male patient with SHANK3 deletion

作者：Ksenija Vucurovic ; Emilie L ; ais ; C¨¦cile Delahaigue ; Julien Eutrope ; Anouck Schneider ; Camille Leroy ; Hamza Kabbaj ; Jacques Motte ; Dominique Gaillard ; Anne-Catherine Roll ; Martine Doco-Fenzy

关键词：SHANK3 deletion ; Bipolar affective disorder ; 22q13 deletion syndrome ; Dementia onset ; Dementia of Alzheimer's type

刊名：European Journal of Medical Genetics

出版年：2012

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