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在“SpringerLink电子期刊”中，命中：264条，耗时：小于0.01 秒

在所有数据库中总计命中：680条

1. Regional early development and eruption of permanent teeth: case report

作者： A. M. Al Mullahi ; A. Bakathir ; S. Al Jahdhami

关键词：Congenital ; Lipomatosis ; Lower lip ; Tooth eruption

刊名：European Archives of Paediatric Dentistry

出版年：2017

2. A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE

作者： Abdul Rezzak Hamzeh ; Fatima Saif ; Pratibha Nair ; Asma Jassim Binjab…

关键词：Faciogenital dysplasiaX ; linked Aarskog syndrome ; Frameshift deletion ; Emirati ; Consanguineous

刊名：BMC Pediatrics

出版年：2017

3. A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF)

作者： Erez Rechavi ; Atar Lev ; Eran Eyal ; Ortal Barel…

关键词：Immunodeficiency ; centromeric instability and facial anomalies syndrome ; ICF ; TREC ; KREC ; DNMT3B ; hypogammaglobulinemia

刊名：Journal of Clinical Immunology

出版年：2016

4. CT findings of the temporal bone in CHARGE syndrome: aspects of importance in cochlear implant surgery

作者： A. C. Vesseur ; B. M. Verbist…

关键词：CHARGE syndrome ; Cochlear implant ; Anatomy ; Genetics ; Temporal bone

刊名：European Archives of Oto-Rhino-Laryngology

出版年：2016

5. Development of bilateral coronary artery aneurysms in a child with Noonan syndrome

作者： David M. Mauro ; Lucia Flors ; Andrew W. Hoyer ; Patrick T. Norton…

关键词：Child ; Computed tomography ; Coronary aneurysm ; Coronary artery ; Magnetic resonance imaging ; Noonan syndrome

刊名：Pediatric Radiology

出版年：2016

6. Psychological impact of visible differences in patients with congenital craniofacial anomalies

作者： Varun Pratap Singh ; Timothy P Moss

关键词：Craniofacial anomalies ; Dental aesthetics ; Facial aesthetics ; Orthodontic ; Psychosocial ; Derriford

刊名：Progress in Orthodontics

出版年：2015

7. Management of Midline Facial Clefts

作者： Sobhan Mishra ; Samrat Sabhlok…

关键词：Midline cleft lip ; Triangular flap ; Z ; plasty ; Midline facial cleft

刊名：Journal of Maxillofacial and Oral Surgery

出版年：2015

8. Approach to the Diagnosis of Overgrowth Syndromes

作者： Mohnish Suri

关键词：Overgrowth ; Syndrome ; Diagnosis ; Investigations ; Tumor risk

刊名：The Indian Journal of Pediatrics

出版年：2016

9. A de novo triplication on 2q22.3 including the entire ZEB2 gene associated with global developmental delay, multiple congenital anomalies and behavioral abnormalities

作者： Haiming Yuan ; Lina Zhang ; Mengfan Chen ; Junping Zhu ; Zhe Meng…

关键词：Mowat ; Wilson syndrome ; Distinctive facial features ; Intellectual disability ; Developmental delay ; Congenital anomalies ; Behavioral abnormalities ; ZEB2 ; triplication

刊名：Molecular Cytogenetics

出版年：2015

10. Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2)

作者：Horst von Bernuth (1) (2)
Ethiraj Ravindran (3) (4)
Hang Du (5)
Sebastian Fr枚hler (5)
Karoline Strehl (1)
Nadine Kr盲mer (3) (4)
Lina Issa-Jahns (3) (4)
Borko Amulic (6)
Olaf Ninnemann (3)
Mei-Sheng Xiao (5)
Katharina Eirich (7)
Uwe K枚lsch (2)
Kathrin Hauptmann (8)
Rainer John (4)
Detlev Schindler (7)
Volker Wahn (1)
Wei Chen (5)
Angela M Kaindl (3) (4)

1. Pediatric Pneumology and Immunology ; Charit茅 - Universit盲tsmedizin Berlin ; Augustenburger Platz 1 ; 13353 ; Berlin ; Germany
2. Labor Berlin Charit茅 Vivantes GmbH ; Department of Immunology ; Berlin ; Germany
3. Institute of Cell Biology and Neurobiology ; Charit茅鈥?Universit盲tsmedizin Berlin ; Augustenburger Platz 1 ; 13353 ; Berlin ; Germany
4. Pediatric Neurology ; Charit茅 - Universit盲tsmedizin Berlin ; Augustenburger Platz 1 ; 13353 ; Berlin ; Germany
5. Berlin Institute for Medical Systems Biology ; Max-Delbrueck-Center for Molecular Medicine ; Robert-R枚ssle-Str. 10 ; 13092 ; Berlin ; Germany
6. Max Planck Institute for Infection Biology ; Berlin ; Germany
7. Institute for Human Genetics ; Biozentrum ; Universit盲t W眉rzburg ; W眉rzburg ; Germany
8. Institute for Pathology ; Charit茅鈥?Universit盲tsmedizin Berlin ; Berlin ; Germany

关键词：ZBTB24 ; ICF2 ; Immunodeficiency ; Microcephaly ; Intellectual disability ; Centromeric instability ; Facial anomalies ; Granulomas

刊名：Orphanet Journal of Rare Diseases

出版年：2014

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