397 results on '"Brunner, H. G."'
Search Results
2. Titin truncating variant cardiomyopathy and related sarcomere insufficiency causes high energy demand resulting in mitochondrial dysfunction, autophagosome formation, and apoptosis
3. Monoamine oxidase A deficiency: Biogenic amine metabolites in random urine samples
4. De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype
5. Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq
6. Psychological distress in newly diagnosed colorectal cancer patients following microsatellite instability testing for Lynch syndrome on the pathologist’s initiative
7. Location, location, location: protein truncating variants in different loci of SRCAP cause three distinct neurodevelopmental disorders, associated with distinctive DNA methylation signatures
8. Shortened time interval between colorectal cancer diagnosis and risk testing for hereditary colorectal cancer is not related to higher psychological distress
9. A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschlʼs gyrus
10. CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy
11. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study
12. A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2–q13.4
13. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
14. A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome
15. Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions
16. Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly
17. A paradoxical genotype-phenotype correlation for EFNB1 mutations: worse outcome in mosaic than constitutionally deficient males
18. A homozygous FKRP start codon mutation is associated with Walker–Warburg syndrome, the severe end of the clinical spectrum
19. Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome
20. Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype
21. Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
22. Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function
23. Dominant versus recessive traits conveyed by allelic mutations – to what extent is nonsense-mediated decay involved?
24. CHD7 mutations in patients initially diagnosed with Kallmann syndrome – the clinical overlap with CHARGE syndrome
25. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
26. Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis
27. The impact of a false-positive MRI on the choice for mastectomy in BRCA mutation carriers is limited
28. Is early-onset microsatellite and chromosomally stable colorectal cancer a hallmark of a genetic susceptibility syndrome?
29. A recurrent de novo PACS2 heterozygous missense variant causes neonatal-onset developmental epileptic encephalopathy, facial dysmorphism and cerebellar dysgenesis
30. Genetic architecture of subcortical brain structures in 38,851 individuals
31. Pure subtelomeric microduplications as a cause of mental retardation
32. The modular nature of genetic diseases
33. Predicting disease genes using protein–protein interactions
34. A second locus for Aicardi-Goutières syndrome at chromosome 13q14–21
35. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene
36. POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome
37. Four Novel TMC1 (DFNB7/DFNB11) Mutations in Turkish Patients With Congenital Autosomal Recessive Nonsyndromic Hearing Loss
38. GeneSeeker: extraction and integration of human disease-related information from web-based genetic databases
39. Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome
40. Glyc-O-genetics of Walker–Warburg syndrome
41. Abnormal Behavior Associated with a Point Mutation in the Structural Gene for Monoamine Oxidase A
42. Craniofrontonasal dysplasia
43. Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)
44. High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation
45. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome
46. Linkage analysis in X-linked adrenoleukodystrophy and application in post-and prenatal diagnosis
47. A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype
48. A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population
49. Very low incidence of microsatellite instability in rectal cancers from families at risk for HNPCC
50. Thrombocytopenia-absent radius syndrome: a clinical genetic study
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