269 results on '"Tolmie, John"'
Search Results
2. Protocol for combined N-of-1 trials to assess cerebellar neurostimulation for movement disorders in children and young adults with dyskinetic cerebral palsy
3. Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA
4. Clinical features and respiratory complications in Myhre syndrome
5. B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability
6. Mosaic structural variation in children with developmental disorders
7. How to use… microarray comparative genomic hybridisation to investigate developmental disorders
8. Chromosomal microarray analysis for looked after children: a double-edged sword?
9. Focal segmental glomerulosclerosis, Coats’-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association
10. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
11. Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation
12. Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome
13. Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model
14. Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades?
15. Spectrum of mutations in the renin–angiotensin system genes in autosomal recessive renal tubular dysgenesis
16. The molecular basis of malonyl-CoA decarboxylase deficiency
17. Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
18. WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations
19. Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor
20. Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays
21. Phenotypic Comparison of Two Scottish Families with Mutations in Different Genes Causing Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
22. Mutations in the general transcription factor TFIIH result in β-thalassaemia in individuals with trichothiodystrophy
23. Phenotype, ovarian function, and growth in patients with 45,X/47,XXX Turner mosaicism: Implications for prenatal counseling and estrogen therapy at puberty
24. A novel acropectoral syndrome maps to chromosome 7q36
25. Familial Mediterranean Fever in a cold climate: read The Lancet
26. A novel pattern of oculocerebral malformation
27. An autosomal recessive adducted thumb-club foot syndrome observed in Turkish cousins
28. Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation
29. Molecular genetic analysis of the 3p — syndrome
30. Charles J. Epstein, Robert P. Erickson, Anthony Wynshaw-Boris (eds): Inborn errors of development: 2nd edn, OUP, 2008, HB, 1617 pages, £160, ISBN 139780195306910, ISBN 100195306910
31. No. I. INSTRUMENT FOR THE USE OF BOOT AND SHOE MAKERS
32. A mutation creating an upstream initiation codon in the SOX9 5′ UTR causes acampomelic campomelic dysplasia
33. Fraser syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria
34. Genetic Disorders and the Fetus. Diagnosis, Prevention and Treatment. Fourth Edition, 1998
35. Familial Syndromic Esophageal Atresia Maps to 2p23-p24
36. Myhre and LAPS syndromes: clinical and molecular review of 32 patients (vol 22, pg 1272, 2014)
37. Detection of an unbalanced translocation (4;14) in a mildly retarded father and son by flow cytometry
38. Erratum: The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P
39. Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies
40. DNA copy number variations are important in the complex genetic architecture of müllerian disorders
41. Myhre and LAPS syndromes: Clinical and molecular review of 32 patients
42. The face of Ulnar Mammary syndrome?
43. Molecular study of 33 families with Fraser syndrome new data and mutation review
44. A mutation creating an upstream initiation codon in the SOX9 5′ UTR causes acampomelic campomelic dysplasia.
45. Erratum: Myhre and LAPS syndromes: clinical and molecular review of 32 patients
46. Chromosomal microarray analysis for looked after children: a double-edged sword?
47. How to use… microarray comparative genomic hybridisation to investigate developmental disorders
48. The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P
49. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
50. SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan
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