12 results on '"Boduroğlu, Koray"'
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2. Homozygous indel mutation in CDH11 as the probable cause of Elsahy–Waters syndrome
3. Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings
4. Spondyloepimetaphyseal dysplasia EXTL3‐deficient type: Long‐term follow‐up and review of the literature
5. Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features
6. ADA2 deficiency in a patient with Noonan syndrome‐like disorder with loose anagen hair: The co‐occurrence of two rare syndromes
7. Catel–Manzke syndrome: A clinical report suggesting autosomal recessive inheritance
8. A second patient with Tsukahara syndrome: Type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis
9. Partial distal aphalangia, duplication of metatarsal IV, microcephaly and borderline intelligence: A third patient suggesting autosomal recessive inheritance
10. Response to the letter to “MTHTR 677C-T polymorphism is not excluded as maternal risk for Down syndrome among Turkish women”
11. Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for down syndrome among Turkish women
12. A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features.
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