44 results on '"Pfundt, R."'
Search Results
2. De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review
3. Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion
4. De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms
5. Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability
6. A novel pathogenic mutation in the HIVEP2 gene in a patient with Angelman-like syndrome and hyperphagia
7. Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism
8. TheMECP2variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome
9. De novoloss-of-function mutations in X-linkedSMC1Acause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum
10. ‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes
11. Detectie van submicroscopische chromosomale afwijkingen door middel van array-diagnostiek
12. Uniparental disomy (UPD) in the human blastocyst is exceedingly rare
13. Pathogenic or not? Assessing the clinical relevance of copy number variants
14. Congenital myopathy caused by a novel missense mutation in the CFL2 gene
15. Genetic diseases
16. 32 GENOME WIDE ANALYSIS IDENTIFIES MITOTIC RECOMBINATION AS CAUSE OF SOMATIC LOSS OF HETEROZYGOSITY IN CYSTS FROM POLYCYSTIC LIVER DISEASE PATIENTS
17. W01-01 - From karyotype to targeted microarray
18. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features
19. Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability
20. De novo copy number variants associated with intellectual disability have a paternal origin and age bias
21. P3.47 Nemaline myopathy caused by a novel missense mutation in the CFL2 gene
22. SNP Array Analysis in Constitutional and Cancer Genome Diagnostics – Copy Number Variants, Genotyping and Quality Control
23. Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis
24. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes
25. Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations
26. Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)(q21.1;p11.2) Translocation with Long-Range Epigenetic Silencing of LRFN5 Expression
27. Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb
28. Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
29. Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype
30. Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals
31. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
32. Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes
33. Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis
34. A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis
35. Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation
36. Pure subtelomeric microduplications as a cause of mental retardation
37. Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies
38. Targeted disruption of the synovial sarcoma-associated SS18 gene causes early embryonic lethality and affects PPARBP expression
39. No Large-Scale Germline Genomic Aberrations in Hereditary Bladder Cancer Patients with High Resolution Array-Based CGH
40. Identification of novel genomic markers related to progression to glioblastoma through genomic profiling of 25 primary glioma cell lines
41. Human Mitochondrial Complex I Deficiency: Investigating Transcriptional Responses by Microarray
42. TNF-α and serum induce SKALP/elafin gene expression in human keratinocytes by a p38 MAP kinase-dependent pathway
43. Constitutive and inducible expression of SKALP/elafin provides anti-elastase defense in human epithelia.
44. The Gene Downstream of the gC Homologue in Feline Herpes Virus Type 1 is Involved in the Expression of Virulence
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