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Cytokine storm in COVID-19: pathogenesis and overview of anti-inflammatory agents used in treatment
by Soy, Mehmet
Clinical rheumatology, 2020-05-30, Vol.39 (7), p.2085-2094
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Educational paper: Ciliopathies
by Bergmann, Carsten
European journal of pediatrics, 2011-09-07, Vol.171 (9), p.1285-1300
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Brief Report: Repetitive Behaviour Profiles in Williams syndrome: Cross Syndrome Comparisons with Prader–Willi and Down syndromes
by Royston, R
Journal of autism and developmental disorders, 2017-10-04, Vol.48 (1), p.326-331
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An estimation of the prevalence of genomic disorders using chromosomal microarray data
by Gillentine, Madelyn A
Journal of human genetics, 2018-07, Vol.63 (7), p.795-801
5.
Brief Report: Challenging Behaviors in Toddlers and Preschoolers with Angelman, Prader–Willi, and Williams Syndromes
by Neo, Wei Siong
Journal of autism and developmental disorders, 2018-12-12, Vol.49 (4), p.1717-1726
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Haemophagocytic syndrome and COVID-19
by Retamozo, Soledad
Clinical rheumatology, 2021-01-03, Vol.40 (4), p.1233-1244
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Peripheral immunophenotypes in children with multisystem inflammatory syndrome associated with SARS-CoV-2 infection
by Carter, Michael J
Nature medicine, 2020-11, Vol.26 (11), p.1701-1707
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Diverse Profiles of Anxiety Related Disorders in Fragile X, Cornelia de Lange and Rubinstein–Taybi Syndromes
by Crawford, Hayley
Journal of autism and developmental disorders, 2017-01-31, Vol.47 (12), p.3728-3740
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The Prevalence and Phenomenology of Repetitive Behavior in Genetic Syndromes
by Moss, Joanna
Journal of autism and developmental disorders, 2008-11-27, Vol.39 (4), p.572-588
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Guillain-Barré syndrome
by Willison, Hugh J, Prof
The Lancet (British edition), 2016, Vol.388 (10045), p.717-727
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The role of genetics in the establishment and maintenance of the epigenome
by Huidobro, Covadonga
Cellular and molecular life sciences : CMLS, 2013-03-10, Vol.70 (9), p.1543-1573
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An international consensus approach to the management of atypical hemolytic uremic syndrome in children
by Loirat, C
Pediatric Nephrology, 2016, Vol.31 (1), p.15-39
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The RASopathies
by Rauen, Katherine A
Annual review of genomics and human genetics, 2013-08-31, Vol.14 (1), p.355-369
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Postural Tachycardia Syndrome: A Heterogeneous and Multifactorial Disorder
by Benarroch, Eduardo E., MD, DSc
Mayo Clinic proceedings, 2012, Vol.87 (12), p.1214-1225
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Concomitant new diagnosis of systemic lupus erythematosus and COVID-19 with possible antiphospholipid syndrome. Just a coincidence? A case report and review of intertwining pathoph...
by Mantovani Cardoso, Eduardo
Clinical rheumatology, 2020-07-28, Vol.39 (9), p.2811-2815
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A Behavioural Assessment of Social Anxiety and Social Motivation in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes
by Crawford, Hayley
Journal of autism and developmental disorders, 2019-09-21, Vol.50 (1), p.127-144
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Morphologic characterization of hamartomatous gastrointestinal polyps in Cowden syndrome, Peutz-Jeghers syndrome, and juvenile polyposis syndrome
by Shaco-Levy, Ruthy, MD
Human pathology, 2015, Vol.49, p.39-48
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Divergences in Insulin Resistance Between the Different Phenotypes of the Polycystic Ovary Syndrome
by Moghetti, Paolo
The journal of clinical endocrinology and metabolism, 2013-04, Vol.98 (4), p.E628-E637
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High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders
by Abonia, J. Pablo, MD
Journal of allergy and clinical immunology, 2013, Vol.132 (2), p.378-386
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B-cell reconstitution after lentiviral vector–mediated gene therapy in patients with Wiskott-Aldrich syndrome
by Castiello, Maria Carmina, PhD
Journal of allergy and clinical immunology, 2015, Vol.136 (3), p.692-702.e2
