Keyword Connections

novel mutation

Journals

2

1 orphanet journal of rare diseases

2 journal of molecular neuroscience : mn

Research Groups

0

No Research Group Connected

Bibliographies

33

1 Nationwide carrier detection and molecular characterization of β-thalassemia and hemoglobin E variants in Bangladeshi population.

2 Mutations in GAA Gene in Tunisian Families with Infantile Onset Pompe Disease: Novel Mutation and Structural Modeling Investigations.

3 a review on central nervous system effects of gastrodin

4 Novel mutations associated with inherited human calcium-sensing receptor disorders: a clinical genetic study.

5 Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case report.

6 Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2

7 A novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China.

8 Molecular Characterization of Aquaglyceroporine: A Novel Mutation in from (MRHO/IR/75/ER).

9 Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13.

10 Two pathologically confirmed cases of novel mutations in the MAPT gene causing frontotemporal dementia.

11 A 7-year-old Boy with Hand Tremors and a Novel Mutation for L-2-hydroxyglutaric Aciduria.

12 The identification of novel mutations in PLCZ1 responsible for human fertilization failure and a therapeutic intervention by artificial oocyte activation.

13 Lack of association of novel mutation Asp397Gly in aftB gene with ethambutol resistance in clinical isolates of Mycobacterium tuberculosis

14 Novel Mutations Found in Individuals with Adult-Onset Pompe Disease.

15 A novel mutation which causes a frameshift in the PHOX2B gene causes Haddad syndrome.

16 A novel mutation (G217D) in the Presenilin 1 gene ( PSEN1 ) in a Japanese family: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum

17 FLT3 and NPM1 mutations in a cohort of AML patients and detection of a novel mutation in tyrosine kinase domain of FLT3 gene from Western India

18 intermediate mcad deficiency associated with a novel mutation of the acadm gene: c.1052c>t

19 twenty novel mutations in bckdha, bckdhb and dbt genes in a cohort of 52 saudi arabian patients with maple syrup urine disease

20 cd70 deficiency due to a novel mutation in a patient with severe chronic ebv infection presenting as a periodic fever

21 novel mutations in  the taz gene in  patients with barth syndrome

22 altered gene-regulatory function of kdm5c by a novel mutation associated with autism and intellectual disability

23 epidermolysis bullosa pruriginosa: a case with a novel mutation and co-existent lichen amyloidosus

24 alsin related disorders: literature review and case study with novel mutations

25 a novel mutation in foxc1 in a lebanese family with congenital heart disease and anterior segment dysgenesis: potential roles for nfatc1 and dpt in the phenotypic variations

26 novel mutations in mlh1 and msh2 genes in mexican patients with lynch syndrome

27 report of a novel mutation in the slc26a2 gene foud in a colomian adult patient with diastrophic dysplasia

28 a novel mutation in the cyp11b1 gene causes steroid 11β-hydroxylase deficient congenital adrenal hyperplasia with reversible cardiomyopathy

29 gestational diabetes associated with a novel mutation (378–379instt) in the glycerol kinase gene

30 novel mutation in wolcott–rallison syndrome with variable expression in two omani siblings

31 Complex preimplantation genetic tests for Robertsonian translocation, HLA, and X-linked hyper IgM syndrome caused by a novel mutation of CD40LG gene - Journal of Assisted Reproduction and Genetics

32 Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystonia.

33 Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia.