Pages that link to "Q115922464"

The following pages link to Jana Sovová (Q115922464):

Displaying 13 items.

• Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation (Q24301443) (← links)
• Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia (Q28118506) (← links)
• Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing (Q28285241) (← links)
• Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure (Q34996277) (← links)
• Mutations in ANTXR1 cause GAPO syndrome. (Q36817312) (← links)
• Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency (Q39425863) (← links)
• Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6. (Q49881851) (← links)
• Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene. (Q54784675) (← links)
• Noninvasive Immunohistochemical Diagnosis and Novel Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease (Q57164422) (← links)
• Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing (Q92528014) (← links)
• An International Cohort Study of Autosomal Dominant Tubulointerstitial Kidney Disease due to REN Mutations Identifies Distinct Clinical Subtypes (Q98200287) (← links)
• Wikidata:WikiCite/Wikidata lists/Works that are referenced and cited but do not have a main subject (← links | edit)
• Wikidata:Univerzita Karlova/Listeria/UPrague people (← links | edit)