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1دورية أكاديمية
المؤلفون: Zsuzsanna Szűcs, Réka Fitala, Ágnes Renáta Nyuzó, Krisztina Fodor, Éva Czemmel, Nóra Vrancsik, Mónika Bessenyei, Tamás Szabó, Katalin Szakszon, István Balogh
المصدر: Genes, Vol 12, Iss 9, p 1331 (2021)
مصطلحات موضوعية: UFM1, Roma founder mutation, ufmylation, Hypomyelinating leukodystrophy type 14, NGS, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Pálma Anker, Norbert Kiss, István Kocsis, Éva Czemmel, Krisztina Becker, Sára Zakariás, Dóra Plázár, Klára Farkas, Balázs Mayer, Nikoletta Nagy, Márta Széll, Nándor Ács, Zsuzsanna Szalai, Márta Medvecz
المصدر: Life, Vol 11, Iss 7, p 624 (2021)
مصطلحات موضوعية: self-improving collodion ichthyosis, collodion baby, collodion membrane, ALOX12B, mutation, genodermatosis, Science
وصف الملف: electronic resource
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3
المؤلفون: Balogh, Zsuzsanna Szűcs, Réka Fitala, Ágnes Renáta Nyuzó, Krisztina Fodor, Éva Czemmel, Nóra Vrancsik, Mónika Bessenyei, Tamás Szabó, Katalin Szakszon, István
المصدر: Genes; Volume 12; Issue 9; Pages: 1331
مصطلحات موضوعية: UFM1, Roma founder mutation, ufmylation, Hypomyelinating leukodystrophy type 14, NGS
وصف الملف: application/pdf
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4
المؤلفون: Éva Czemmel, Balázs Mayer, Zsuzsanna Szalai, Márta Medvecz, Sara Zakarias, Nikoletta Nagy, Pálma Anker, K. Farkas, Márta Széll, Dóra Plázár, Nándor Ács, István Kocsis, Norbert Kiss, Krisztina Becker
المصدر: Life, Vol 11, Iss 624, p 624 (2021)
Lifeمصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Erythema, autosomal recessive congenital ichthyosis, collodion baby, genotype, Science, Nonsense mutation, collodion membrane, ALOX12B, Erythroderma, General Biochemistry, Genetics and Molecular Biology, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Collodion, Congenital ichthyosis, Medicine, disorder of cornification, Ecology, Evolution, Behavior and Systematics, business.industry, Ichthyosis, Communication, Genodermatosis, Paleontology, medicine.disease, Dermatology, 030104 developmental biology, Space and Planetary Science, self-improving collodion ichthyosis, mutation, medicine.symptom, business, genodermatosis