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Inherited Protein Glycosylation Defects in Human Diseases
- Aleksandra Jezela-Stanek
- Anna Tylki-Szymańska
- Karolina M Stepien
- 81,768 views
- 15 articles
- Frontiers in Pediatrics
- Genetics of Common and Rare Diseases
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Molecular Mechanisms of Heritable Connective Tissue Disorders
- Fransiska Malfait
- Antonella Forlino
- Gerhard Sengle
- Tom Van Agtmael
- 47,037 views
- 9 articles
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Gene, Cell and Protein Replacement Therapy of Genetic Muscle, Bone and Skin disorders
- Holm Schneider
- Michele De Luca
- 35,037 views
- 6 articles
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Developmental Delay and Intellectual Disability
- Prof. (Dr.) Santasree Banerjee
- Muhammad Ayub
- Chen Li
- Prof. Anjana Munshi
- 102,610 views
- 22 articles
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NGS Technologies of Rare Diseases Diagnosis
- MarĂa L. Couce
- Emiliano González Vioque
- Richard J Rodenburg
- 102,737 views
- 34 articles
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Genetics of Complex Traits & Diseases from Under-Represented Populations
- Segun Fatumo
- Tinashe Chikowore
- Karoline Kuchenbaecker
- 51,516 views
- 11 articles
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Improving Medical Diagnosis in Rare Diseases
- Natália Duarte Linhares
- Alfredo Brusco
- Kathleen M Gorman
- 82,611 views
- 24 articles
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Novel Insights into the Genetics of Growth Disorders
- Mara Giordano
- Liborio Stuppia
- 32,289 views
- 10 articles
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Emerging Technologies Powering Rare and Neglected Disease Diagnosis and Therapy Development
- Zhichao Liu
- Shraddha Thakkar
- Qais Y. Hatim
- Ruth Roberts
- Tieliu Shi
- 85,325 views
- 21 articles
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Female infertility: Genetics of Reproductive Ageing, Menopause and Primary Ovarian Insufficiency
- Mara Marongiu
- Laura Crisponi
- Emanuele Pelosi
- Manuela Uda
- 105,414 views
- 14 articles
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Monogenic vs Oligogenic Reclassification
- Olfa MESSAOUD
- KALPITA BANERJEE
- Mario Reynaldo Cornejo-Olivas
- Atanu Kumar Dutta
- Zahurul A. Bhuiyan
- 31,736 views
- 5 articles
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Mechanisms of Skeletal Development, Disease and Treatments
- Fabiana Csukasi
- Ivan Duran
- Roy Morello
- Vicki Rosen
- 58,509 views
- 9 articles
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Copy Number Variation in Rare Disorders
- Judit Bene
- Katalin Komlosi
- Attila Gyenesei
- 77,633 views
- 14 articles
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Biomarkers and Pathogenesis of Alpha-Synuclein in Parkinson's Disease
- Pingyi Xu
- Shaomin Li
- Liu Jun
- Yun-Cheng Wu
- Shaogang Qu
- Hao Deng
- 184,952 views
- 33 articles
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Newborn Screening for Inborn Errors of Metabolism
- Mohamed A. Elmonem
- Lambertus Petrus Van Den Heuvel
- 94,637 views
- 14 articles
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Genetic Studies on Spondyloarthritis: from Disease Predictors to Therapeutic Targets
- Fabiana Paladini
- Roberta Ramonda
- Tony Kenna
- Matteo Vecellio
- 45,370 views
- 10 articles