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SpringerLink电子期刊(4)

在“SpringerLink电子期刊”中，命中：4条，耗时：0.0179931 秒

在所有数据库中总计命中：4条

1. Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations

作者：Mark Nellist (1)
Rutger WW Brouwer (2)
Christel EM Kockx (2)
Monique van Veghel-Plandsoen (1)
Caroline Withagen-Hermans (1)
Lida Prins-Bakker (1)
Marianne Hoogeveen-Westerveld (1)
Alan Mrsic (1)
Mike MP van den Berg (1) (3)
Anna E Koopmans (1) (3)
Marie-Claire de Wit (4)
Floor E Jansen (5)
Anneke JA Maat-Kievit (1)
Ans van den Ouweland (1)
Dicky Halley (1)
Annelies de Klein (1)
Wilfred FJ van IJcken (2)

1. Department of Clinical Genetics ; Ee-2426 ; Erasmus Medical Center ; Wytemaweg 80 ; 3015 ; Rotterdam ; CN ; The Netherlands
2. Center for Biomics ; Erasmus Medical Center ; Wytemaweg 80 ; 3015 ; Rotterdam ; CN ; The Netherlands
3. Department of Ophthalmology ; Erasmus Medical Center ; Wytemaweg 80 ; 3015 ; Rotterdam ; CN ; The Netherlands
4. Department of Neurology ; Sophia Children鈥檚 Hospital ; Erasmus Medical Center ; Wytemaweg 80 ; 3015 ; Rotterdam ; CN ; The Netherlands
5. Department of Pediatric Neurology ; Brain Center Rudolf Magnus ; University Medical Center Utrecht ; 3508 ; Utrecht ; EA ; The Netherlands

关键词：Tuberous sclerosis complex ; TSC1 ; TSC2 ; HaloPlex ; Next Generation Sequencing

刊名：BMC Medical Genetics

出版年：2015

2. Atypical presentation of a newborn with Apert syndrome

作者：B. Spruijt (1)
B. F. M. Rijken (1)
K. F. M. Joosten (1)
H. H. Bredero-Boelhouwer (1)
B. Pullens (1)
M. H. Lequin (1)
E. B. Wolvius (1)
M. L. C. van Veelen-Vincent (1)
I. M. J. Mathijssen (1)

1. Dutch Craniofacial Center ; Sophia Children鈥檚 Hospital鈥擡rasmus University Medical Center ; Wytemaweg 80 ; Room SK-1202 ; PO Box 2060 ; 3015 CN ; Rotterdam ; The Netherlands

关键词：Apert syndrome ; Craniosynostosis ; Intracranial pressure ; Apnea ; Epilepsy

刊名：Child's Nervous System

出版年：2015

3. Calcifying vascular smooth muscle cells and osteoblasts: independent cell types exhibiting extracellular matrix and biomineralization-related mimicries

作者：Rodrigo DAM Alves (4)
Marco Eijken (4)
Jeroen van de Peppel (4)
Johannes PTM van Leeuwen (4)

4. Department of Internal Medicine ; Erasmus MC ; Wytemaweg 80 ; 3015 CN ; Rotterdam ; The Netherlands

关键词：Calcifying ; Vascular smooth muscle cells ; Osteoblasts ; Gene expression ; Extracellular matrix ; Biomineralization

刊名：BMC Genomics

出版年：2014

4. Newborn screening for pompe disease? a qualitative study exploring professional views

作者：Carla G van El (1)
Tessel Rigter (1)
Arnold JJ Reuser (2) (3)
Ans T van der Ploeg (2) (3) (4)
Stephanie S Weinreich (1) (2) (3)
Martina C Cornel (1) (5) (6)

1. Department of Clinical Genetics/EMGO Institute for Health and Care Research ; Section Community Genetics ; VU University Medical Center ; Van der Boechorststraat 7 ; 1081BT ; Amsterdam ; The Netherlands
2. Center for Lysosomal and Metabolic Diseases ; Erasmus MC University Medical Center ; Wytemaweg 80 ; 3015CN ; Rotterdam ; The Netherlands
3. Department of Clinical Genetics ; Erasmus MC University Medical Center ; Dr. Molewaterplein 50 ; 3015 GE ; Rotterdam ; The Netherlands
4. Department of Pediatrics ; Division of Metabolic Diseases and Genetics ; Erasmus MC University Medical Center ; Dr. Molewaterplein 60 ; 3915GJ ; Rotterdam ; The Netherlands
5. Centre for Medical Systems Biology ; Leiden University ; Postbox 9600 ; 2300 RC ; Leiden ; The Netherlands
6. CSG Centre for Society and the Life Sciences ; Toernooiveld 216 ; 6525 EC ; Nijmegen ; The Netherlands

刊名：BMC Pediatrics

出版年：2014

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