搜索页_ Seema Kapoor…

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在“SpringerLink电子期刊”中，命中：55条，耗时：小于0.01 秒

在所有数据库中总计命中：80条

1. Polymorphism of 3′ UTR of MAMLD1 gene is also associated with increased risk of isolated hypospadias in Indian children: a preliminary report

作者： Simmi K. Ratan ; Anju Sharma ; Seema Kapoor…

刊名：Pediatric Surgery International

出版年：2016

2. Genetic Analysis of Jervel and Lange Nielsen Syndrome with a Novel Mutation in KCNQ1 Gene

作者： Ankur Singh ; Rajniti Prasad ; Royana Singh ; Seema Kapoor…

刊名：The Indian Journal of Pediatrics

出版年：2016

3. Novel Mutation and White Matter Involvement in an Indian Child with Pycnodysostosis

作者：Ankur Singh (1)
Sergio Cuevas-Covarrubias (2)
Gaurav Pradhan (3)
V. K. Gautam (4)
Olga Messina-Baas (2)
Luz Maria Gonzalez-Huerta (2)
Manisha Goyal (5)
Seema Kapoor (5) (6)

1. Department of Pediatrics ; LHMC and associated Kalawati Saran Children Hospital ; New Delhi ; India
2. Department of Genetics ; General Hospital of M茅xico ; UNAM ; Mexico City ; Mexico
3. Department of Radiology ; Maulana Azad Medical College and associated Lok Nayak Hospital ; New Delhi ; India
4. Department of Orthopedics ; Maulana Azad Medical College and associated Lok Nayak Hospital ; New Delhi ; India
5. Division of Genetics ; Department of Pediatrics ; Maulana Azad Medical College and associated Lok Nayak Hospital ; New Delhi ; India
6. M-439 ; Ground Floor ; Guruharkishan Nagar ; Paschim Vihar ; New Delhi ; 110087 ; India

关键词：Pycnodysostosis ; CTSK gene ; Frameshift mutation

刊名：The Indian Journal of Pediatrics

出版年：2015

4. Prenatal screening: Perspective for the pediatrician

作者：Seema Kapoor (1)
Sangeeta Gupta (2)
Madhulika Kabra (3)

1. Division of Genetics ; Departments of Pediatrics ; MAMC and associated Lok Nayak Hospital ; New Delhi ; 110 002 ; India
2. Departments of Gynecology and Obstetrics ; MAMC and associated Lok Nayak Hospital ; New Delhi ; India
3. Division of Genetics ; Department of Pediatrics ; AIIMS ; New Delhi ; India

关键词：Aneuploidies ; Down syndrome ; Prenatal diagnosis

刊名：Indian Pediatrics

出版年：2014

5. Delayed presentation of rickets in a child with labyrinthine aplasia, microtia and microdontia (LAMM) syndrome

作者：Ankur Singh (1)
Mustafa Tekin (2)
Michelle Falcone (2)
Seema Kapoor (1)

1. Department of Pediatrics ; Division of Genetics ; MAMC & Associated Lok Nayak Hospital ; M-439 ; Ground Floor ; Guruharkishan Nagar ; Paschim Vihar ; New Delhi ; India
2. John P Hussman Institute for Human Genetics ; University of Miami ; Miller Scool of Medicine ; Miami ; FL ; USA

关键词：Deafness ; Fibroblast growth factor receptor3 ; Hypophosphatemic rickets

刊名：Indian Pediatrics

出版年：2014

6. Down Syndrome with Transient Myeloproliferative Disorder and Beta-Thalassemia Major

作者：Amit Garg (1)
Ankur Singh (1)
Mohanaraj Ramachandran (1)
Seema Kapoor (1)

1. MAMC and Associated Lok Nayak Hospital ; M-439 ; Ground Floor ; Guruharkishan Nagar ; Paschim Vihar ; New Delhi ; India

关键词：Down syndrome TMD ; Beta ; thalassemia major

刊名：Indian Journal of Hematology and Blood Transfusion

出版年：2014

7. A Novel Mechanism for Dynamic Optimization of Intercloud Services

作者：Lohit Kapoor (26)
Seema Bawa (26)
Ankur Gupta (27)

关键词：Intercloud ; Service orchestration in Intercloud ; Service ranking and selection

刊名：Lecture Notes in Computer Science

出版年：2014

8. Establishing national neonatal perinatal database and birth defects registry network -Need of the hour!

作者： Neerja Gupta ; Madhulika Kabra ; Seema Kapoor

关键词：Birth defects ; Network ; Registry

刊名：Indian Pediatrics

出版年：2014

9. Heparin co-factor II Thrombin complex as a biomarker for mucopolysaccharidosis: Indian experience

作者：Sanjeev Kumar Pandey (1)
Ankur Singh (1)
A. P. Dubey (1)
T. K. Mishra (2)
Seema Kapoor (1) (3)

关键词：Diagnosis ; Glucosamino ; glycans ; Mucopolysaccharidosis ; Screening

刊名：Indian Pediatrics

出版年：2014

10. Genetic Study of an Indian Family with Cherubism

作者：Ankur Singh (1)
Khushbu Singh (2)
Ruchi Goel (3)
Ying Hu (4)
Ernst Reichenberger (4)
Seema Kapoor (1) (5)

关键词：Cherubism ; Exon 9 mutation

刊名：The Indian Journal of Pediatrics

出版年：2014

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