| Artigo em revista |
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10.1016/j.ajhg.2021.05.010
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10.1002/humu.24150
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10.1111/joim.13193
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- Travessa AM; Díaz-González F; Mirco T; Oliveira-Ramos F; Parrón-Pajares M; Heath KE; Sousa AB. "Spondyloepiphyseal dysplasia
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10.1002/ajmg.a.61817
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- Almeida, Ana. "VRK1 variants in two Portuguese unrelated patients with childhood-onset motor neuron disease.". Amyotrophic
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10.1080/21678421.2020.1746343
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10.1002/jmd2.12108
- Almeida, Ana. "Upper limb phocomelia: A prenatal case of thrombocytopenia-absent radius (TAR) syndrome illustrating the importance
of chromosomal microarray in limb reduction defects.". Taiwanese journal of obstetrics & gynecology (2020): https://doi.org/10.1016/j.tjog.2020.01.024.
10.1016/j.tjog.2020.01.024
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disorder.". Genetics in medicine : official journal of the American College of Medical Genetics (2020): https://doi.org/10.1038/s41436-019-0747-z.
10.1038/s41436-019-0747-z
- Almeida, Ana. "Monozygotic Twins Concordant for Common Variable Immunodeficiency: Strikingly Similar Clinical and Immune Profile
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10.3389/fimmu.2019.02503
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10.1016/j.tjog.2017.01.012
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10.1016/j.ijporl.2016.02.009
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10.1111/cge.12361
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A case report". Journal of Medical Case Reports 9 1 (2015): http://www.scopus.com/inward/record.url?eid=2-s2.0-84941009830&partnerID=MN8TOARS.
10.1186/s13256-015-0689-2
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associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure". Medicine (United States) 94
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massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes". European
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10.1038/ejhg.2014.97
- Almeida, Ana. "Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach".
Mol Genet Genomic Med (2015):
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Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form
of Osteogenesis Imperfecta". Journal of Bone and Mineral Research 30 8 (2015): 1445-1456. http://www.scopus.com/inward/record.url?eid=2-s2.0-84937161587&partnerID=MN8TOARS.
10.1002/jbmr.2473
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TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: Evidence of founder
effects in Portugal". British Journal of Dermatology 168 6 (2013): 1364-1367. http://www.scopus.com/inward/record.url?eid=2-s2.0-84878645760&partnerID=MN8TOARS.
10.1111/bjd.12179
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10.1002/ajmg.a.33884
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