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American Journal of Medical Genetics. Part A|February 12, 2016
Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentationAlexandra Topa, Mar Tulinius, Anders Oldfors, et al.American Journal of Medical Genetics. Part A|June 8, 2017
On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant KMT2D mutation and 3.2 Mbp de novo 10q22.3q23.1 deletionAlexandra Topa, Lena Samuelsson, Lovisa Lovmar, et al.Neuromuscular Disorders : NMD|June 18, 2017
Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic maleCarola Hedberg-Oldfors, Kittichate Visuttijai, Alexandra Topa, et al.Lakartidningen|July 15, 2015
[Anophthalmia and microphthalmia requires multidisciplinary care. Many of the children also have other medical problems]Ylva Jugård, Marie Odersjö, Alexandra Topa, et al.Plos One|April 16, 2025
Time-motion study in primary health care in moldova: How do family doctors and medical assistants spend their work time?Altiona Muho, Jari Kempers, Alexandra Topa, et al.Global Health Action|November 30, 2023
Does training on the WHO package of essential noncommunicable (PEN) disease interventions enhance consultation quality? A real-world assessment of adherence to PEN protocol in primary health centres in the Republic of MoldovaJari Kempers, Cristina Rotaru, Alexandra Topa, et al.Acta Ophthalmologica|May 22, 2020
Children and young adults with anophthalmia and microphthalmia: Diagnosis and ManagementRezhna Taha Najim, Alexandra Topa, Ylva Jugård, et al.Acta Ophthalmologica|May 2, 2020
Visual function and quality of life in children and adolescents with anophthalmia and microphthalmia treated with ocular prosthesisBeatrice Casslén, Ylva Jugård, Rezhna Taha Najim, et al.American Journal of Medical Genetics. Part A|December 15, 2019
NGS targeted screening of 100 Scandinavian patients with coronal synostosisAlexandra Topa, Anna Rohlin, Mattias K Andersson, et al.European Journal of Medical Genetics|March 25, 2022
The outcome of targeted NGS screening in patients with syndromic forms of sagittal and pansynostosis - IL11RA is an emerging core-gene for pansynostosisAlexandra Topa, Anna Rohlin, Mattias K Andersson, et al.Pageof 2