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Wiley电子期刊(9)

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在“Wiley电子期刊”中，命中：9条，耗时：小于0.01 秒

在所有数据库中总计命中：305条

1.First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation

作者：Fabio Acquaviva ; Maria Elena Sana ; Matteo Della Monica ; Michele Pinelli ; Diana Postorivo ; Paolo Fontana ; Maria Teresa Falco ; Anna Maria Nardone ; Fortunato Lonardo ; Maria Iascone and Gioacchino Scarano

刊名：American Journal of Medical Genetics Part A

出版年：2017

2.Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene

作者：Luisa Ronzoni ; Francesco Tagliaferri ; Arianna Tucci ; Marco Baccarin ; Susanna Esposito and Donatella Milani

关键词：interstitial 6q microdeletion syndrome ; ARID1B ; dysgenesis of the corpus callosum ; hearing loss ; intellectual disability

刊名：American Journal of Medical Genetics Part A

出版年：2016

3.Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability

作者：Luisa Mackenroth ; Karl Hackmann ; Barbara Klink ; Julia Sara Weber ; Brigitte Mayer ; Evelin Schrö ; ck and Andreas Tzschach

刊名：American Journal of Medical Genetics Part A

出版年：2016

4.Interstitial deletion of 7q22.1q31.1 in a boy with structural brain abnormality, cardiac defect, developmental delay, and dysmorphic features

作者：Olivia L. Katz ; Ian D. Krantz and Sarah E. Noon

刊名：American Journal of Medical Genetics Part C: Seminars in Medical Genetics

出版年：2016

5.A de novo interstitial deletion of 7q31.2q31.31 identified in a girl with developmental delay and hearing loss

作者：Jianhua Zhao ; Sarah E. Noon ; Ian D. Krantz and Yaning Wu

刊名：American Journal of Medical Genetics Part C: Seminars in Medical Genetics

出版年：2016

6.Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome

作者：Anju Shukla ; Malavika Hebbar ; Frederike L. Harms ; Rajagopal Kadavigere ; Katta M. Girisha and Kerstin Kutsche

刊名：American Journal of Medical Genetics Part A

出版年：2016

7.A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders

作者：Fatma Abdelhedi ; Laila El Khattabi ; Nouha Essid ; Geraldine Viot ; Dominique Letessier ; Aziza Lebbar and Jean-Michel Dupont

刊名：American Journal of Medical Genetics Part A

出版年：2016

8.Nine year old boy with chromosome 1q23.3-q25.1 deletion

作者：Felicia Lam and Colleen Morris

刊名：American Journal of Medical Genetics Part A

出版年：2016

9.A 16q12.2q21 deletion identified in a patient with developmental delay, epilepsy, short stature, and distinctive features

作者：Toshiyuki Yamamoto ; Keiko Shimojima ; Sawako Yamazaki ; Kanju Ikeno and Jun Tohyama

刊名：Congenital Anomalies

出版年：2016

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