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1 Ergebnisse
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A Novel Homozygous Frameshift Variant in DYM Causing Dyggve..:
Nagwa E. A. Gaboon
;
Asia Parveen
;
Khaled A. Ahmad
...
https://www.frontiersin.org/article/10.3389/fped.2020.00383/full. , 2020
Link:
https://doi.org/10.3389/fped.2020.00383
RT Journal T1
A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:f0a2c2290d8a4936a6c66f7043429bc0&Exemplar=1&LAN=DE A1 Nagwa E. A. Gaboon A1 Asia Parveen A1 Khaled A. Ahmad A1 Taghreed Shuaib A1 Jumana Y. Al-Aama A1 Lereen Abdelwehab A1 Amina Arif A1 Naveed Wasif PB Frontiers Media S.A. YR 2020 K1 Dyggve-Melchior-Clausen syndrome K1 Smith-McCort dysplasia K1 consanguineous K1 Sanger sequencing K1 DYM K1 Pediatrics K1 RJ1-570 JF https://www.frontiersin.org/article/10.3389/fped.2020.00383/full LK http://dx.doi.org/https://doi.org/10.3389/fped.2020.00383 DO https://doi.org/10.3389/fped.2020.00383 SF ELIB - SuUB Bremen
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