Browsing WoS İndeksli Yayınlar Koleksiyonu by Publisher "Georg Thieme Verlag Kg"
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Genetic and Clinical Approach To Microcephaly: A 5-Year Single Center Experience
(Georg Thieme Verlag Kg, 2021)Microcephaly is a dysmorphic feature characterized by small head size more than two standard deviations below the mean for age, sex, and ethnicity. There are several etiological factors ranging from environmental toxins ... -
Genotype to Phenotype: Identification of Mucopolysaccharidosis Type IIIB (Sanfilippo's B) Case Using Whole Exome Sequencing
(Georg Thieme Verlag Kg, 2021)Mucopolysaccharidosis type IIIB (Sanfilippo's B; OMIM no.: 252920) is a lysosomal storage disorder caused by defective degradation of heparan sulfate. The enzyme that has decreased function in this disease is alpha-N ...