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Publications tagged with this subject: 30

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1. A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family

2. A case of rapid progression of Fabry nephropathy with remarkable glomerulomegaly: a case report and mini literature review of weak response to enzyme replacement therapy (ERT)

3. Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome

4. Pathogenic mutation in the ALS/FTD gene, CCNF, causes elevated Lys48-linked ubiquitylation and defective autophagy

5. Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease

6. Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency

7. Next-generation sequencing for D47N mutation in Cx50 analysis associated with autosomal dominant congenital cataract in a six-generation Chinese family

8. Whole exome sequencing reveals a functional mutation in the GAIN domain of the Bai2 receptor underlying a forward mutagenesis hyperactivity QTL

9. Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene

10. Glucokinase mutations in pediatric patients with impaired fasting glucose

11. Nonsyndromic oligodontia

12. A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels

13. Genetic polymorphism of scrA gene of Streptococcus mutans isolates is not associated with biofilm formation in severe early childhood caries

14. A Somatic HIF2α Mutation-Induced Multiple and Recurrent Pheochromocytoma/Paraganglioma with Polycythemia: Clinical Study with Literature Review

15. A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis

16. Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome

17. Abernethy malformation associated with Caroli’s syndrome in a patient with a PKHD1 mutation: a case report

18. A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like

19. Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss

20. ADCY5-related dyskinesia presenting as familial myoclonus-dystonia

21. 13 novel putative mutations in ATP7A found in a cohort of 25 Italian families

22. A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth

23. PRKAG2 mutations presenting in infancy

24. The Arg282Ser missense mutation in APOA5 gene determines a reduction of triglyceride and LDL-cholesterol in children, together with low serum levels of apolipoprotein A-V

25. Formyl peptide receptor polymorphisms: 27 most possible ways for phagocyte dysfunction

26. Mutations in HNF1A Gene are not a Common Cause of Familial Young-Onset Diabetes in Iran

27. Auditory Processing Enhancements in the TS2-Neo Mouse Model of Timothy Syndrome, a Rare Genetic Disorder Associated with Autism Spectrum Disorders

28. Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters

29. Myeloid neoplasms with germline DDX41 mutation

30. Prevalence of two BRCA1 mutations, 5382insC and 300T > G, in ovarian cancer patients from Ukraine


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