99 results on '"Hoefsloot, L. H."'
Search Results
2. Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB
3. Genotype phenotype correlations for hearing impairment: Approaches to management
4. Audiometric Characteristics of a Dutch Family with a New Mutation in GATA3 Causing HDR Syndrome
5. Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan
6. Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2)
7. CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype
8. Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis
9. CHD7 mutations in patients initially diagnosed with Kallmann syndrome – the clinical overlap with CHARGE syndrome
10. Mutations in CHD7 in patients with CHARGE syndrome cause T–B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome
11. Identification of a Novel EYA1 Mutation Presenting in a Newborn With Laryngomalacia, Glossoptosis, Retrognathia, and Pectus Excavatum
12. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene
13. PCR analysis of Y-chromosome deletions in subfertile men
14. [From gene to disease; mutations in the SLC12A3 gene as the cause of Gitelman's syndrome]
15. CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome
16. Development of a genotyping microarray for Usher syndrome
17. Adult and infantile glycogenosis type II in one family, explained by allelic diversity
18. Teunissen-Cremers Syndrome: A Clinical, Surgical, and Genetic Report
19. Hearing loss and connexin 26
20. Screening Male Intracytoplasmic Sperm Injection Candidates for Mutations of the Follicle Stimulating Hormone Receptor Gene
21. Does intracytoplasmic sperm injection lead to a rise in the frequency of microdeletions in the AZFc region of the Y chromosome in future generations?
22. Screening male intracytoplasmic sperm injection candidates for mutations of the follicle stimulating hormone receptor gene
23. Microdeletions of the Y chromosome and intracytoplasmic sperm injection: from gene to clinic
24. Identification of a nonsense mutation in the granulocyte-colony-stimulating factor receptor in severe congenital neutropenia.
25. Distinct cytoplasmic regions of the human granulocyte colony-stimulating factor receptor involved in induction of proliferation and maturation.
26. Expression and routeing of human lysosomal α-glucosidase in transiently transfected mammalian cells
27. Characterization of the human lysosomal α-glucosidase gene
28. Primary structure and processing of lysosomal alpha‐glucosidase; homology with the intestinal sucrase‐isomaltase complex.
29. CHARGE Syndrome: Confirmed CHD7 Mutation in Sibs, With Paternal Mosaicism.
30. More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated.
31. [From gene to disease: adrenogenital syndrome and the CYP21A2 gene].
32. [From gene to disease; mutations in the SLC12A3 gene as the cause of Gitelman's syndrome].
33. [From gene to disease: from the ABCA4 gene to Stargardt disease, cone-rod dystrophy and retinitis pigmentosa].
34. [From gene to disease: deafness and connexin 26].
35. [From gene to disease; deletion of the DAZ-gene from the Y-chromosome in oligo- or azoospermia ].
36. PTEN mutation in a family with Cowden syndrome and autism.
37. DAZLA: an important candidate gene in male subfertility?
38. Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.
39. Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations.
40. Erythropoietin-induced activation of STAT5 is impaired in the myelodysplastic syndrome.
41. Interleukin-7 signaling in human B cell precursor acute lymphoblastic leukemia cells and murine BAF3 cells involves activation of STAT1 and STAT5 mediated via the interleukin-7 receptor alpha chain.
42. Erythropoiesis in myelodysplastic syndrome: expression of receptors for erythropoietin and kit ligand.
43. The membrane-distal cytoplasmic region of human granulocyte colony-stimulating factor receptor is required for STAT3 but not STAT1 homodimer formation.
44. The C-terminal cytoplasmic region of the granulocyte colony-stimulating factor receptor mediates apoptosis in maturation-incompetent murine myeloid cells.
45. A point mutation in the granulocyte colony-stimulating factor receptor (G-CSF-R) gene in a case of acute myeloid leukemia results in the overexpression of a novel G-CSF-R isoform.
46. Identical fusion transcript associated with different breakpoints in the AML1 gene in simple and variant t(8;21) acute myeloid leukemia.
47. An XbaI restriction site polymorphism in the acid alpha-glucosidase gene (GAA).
48. Characterization of the human lysosomal alpha-glucosidase gene.
49. Expression and routeing of human lysosomal alpha-glucosidase in transiently transfected mammalian cells.
50. HindIII/EcoRI polymorphism in the GAA gene.
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