Yayıncı "Georg Thieme Verlag Kg" için listeleme

Toplam kayıt 2, listelenen: 1-2

Genetic and Clinical Approach To Microcephaly: A 5-Year Single Center Experience

Elmas, Muhsin; Yıldırım, Ümit Can (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

Elmas, Muhsin; Göğüş, Başak; Kılıçarslan, Furkan; Bükülmez, Ayşegül; Solak, Mustafa (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 ...