Pubblicazioni a Index
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
Genetic testing for inherited retinal degenerations: Triumphs and tribulations - Branham - 2020 - American Journal of Medical Genetics Part C: Seminars in Medical Genetics - Wiley Online Library
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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
References
GAIN Bibliography
Rare copy number variants identified in prune belly syndrome
Osteoglophonic dysplasia. | Journal of Medical Genetics
Volume 30 Issue 12, December 2022
European Journal of Human Genetics
PDF) Mutation analysis of B3GALTL in Peters Plus syndrome | Jodi D Hoffman - Academia.edu
Oesophageal aperistalsis in a patient with myasthenia gravis with dysphagia as a symptom of onset
Vol. 4 No. 2 (2022) | European Journal of Medical and Health Sciences
Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients by Krause et al, Am J Med Genet B | The EPHE Neurogenetics Team
Genetics of atrioventricular canal defects | Italian Journal of Pediatrics | Full Text
Wessex Regional Genetics Laboratory Publications 2020
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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
Microduplication of xp22.31 | PDF | Gene Duplication | Gene
Heterogeneity of Cardio-Facio-Cutaneous Syndrome: Editorial Comment | PDF | Syndrome | Genetics
Reviews Supplements RS March / April 2021 Page 25
