congenital anomalies, such as congenital heart disease and gas- trointestinal anomalies(1). The prenatal diagnosis is based on i
PDF) Community Dissemination and Genetic Research: Moving Beyond Results Reporting
Volume 30 Issue 12, December 2022
Osteoglophonic dysplasia. | Journal of Medical Genetics
1204 sion, stated that “the standard of care identified in this article has not been imposed by a court of law. It is the stan
Reviews Supplements RS March / April 2021 Page 25
Supplementary Information (doc 55K)
Oesophageal aperistalsis in a patient with myasthenia gravis with dysphagia as a symptom of onset
Children | Free Full-Text | Biolinguistics: A Scientometric Analysis of Research on (Children’s) Molecular Genetics of Speech and Language (Disorders)
A family with FDAB with TRPV4 mutation F273L (reproduced from Am J Med... | Download Scientific Diagram
PDF) Erratum to: An Interstitial 15q11-q14 Deletion: Expanded Prader-Willi Syndrome Phenotype (DOI 10.1002/ajmg.a.33197; Am J Med Genet Part A 152A:404-408) | Douglas Bittel - Academia.edu
Rare copy number variants identified in prune belly syndrome
Genetic Vascular... - CTisus: Cutting edge information on body CT (Computed tomography). | Facebook
PDF) Mutation analysis of B3GALTL in Peters Plus syndrome | Jodi D Hoffman - Academia.edu
Untitled
Microduplication of xp22.31 | PDF | Gene Duplication | Gene
European Journal of Medical Genetics impact factor and... | Exaly
European Journal of Human Genetics
European Journal of Human Genetics (@ejhg_journal) / Twitter
Wessex Regional Genetics Laboratory Publications 2020
Medical genetics. - Abstract - Europe PMC
Vol. 4 No. 2 (2022) | European Journal of Medical and Health Sciences
吳雅慧研究員 近五年發表期刊論文 (2009-2013) 1. Lai SC, Chen RS, Wu Chou YH, Chang HC, Kao LY, Huang YZ, Weng Y
Silver-Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis – topic of research paper in Clinical medicine. Download scholarly article PDF and read for free on
Publications Dr. rer. nat. Andreas Laner 1. Morak M, Schaefer K, Steinke-Lange V, et al. Full-length transcript amplification a
Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population. - Abstract - Europe PMC
American Journal of Medical Genetics Part A - Wiley Online Library
