204 results on '"Tinschert S"'
Search Results
2. Neurofibromatose Typ 1
3. The importance of genetic susceptibility in Dupuytrenʼs disease
4. Three-generational alkaptonuria in a non-consanguineous family
5. Fluoreszenz-in-situ-Hybridisierung in der humangenetischen Diagnostik
6. Klinische Variabilität bei Mutationen im p63-Gen
7. Macrocephaly, Obesity, Mental (Intellectual) Disability, and Ocular Abnormalities: Alternative Definition and Further Delineation of MOMO Syndrome
8. Refinement of the chromosome 5p locus for craniometaphyseal dysplasia
9. Clinical Phenotypes in Patients with NF1Microdeletions
10. A new autosomal dominant syndrome of distinctive face showing ptosis and prominent eyes associated with cleft palate, ear anomalies, and learning disability
11. Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature
12. The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients
13. Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region
14. The Kabuki syndrome: four patients with oral abnormalities
15. Spontaneous remission of chiasmatic/hypothalamic masses in neurofibromatosis type 1: report of two cases
16. Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome
17. A Postzygotic SMO Mutation Caused the Original Case of Happle–Tinschert Syndrome
18. Meta-analysis of genome-wide association studies and network analysis-based integration with gene expression data identify new suggestive loci and unravel a Wnt-centric network associated with Dupuytren's disease
19. FKDS-Nachweis von Gefäßmalformationen bei seltenen Hemihyperplasie-Syndromen
20. Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient
21. Genotype-phenotype correlation of coffin-siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A
22. Happle-Tinschert syndrome can be caused by a mosaic SMO mutation and is suggested to be a variant of Curry-Jones syndrome
23. Vaskuläre Malformationen bei Syndromen mit regionalem Riesenwuchs
24. Wnt signaling and Dupuytren's disease
25. Genetik der isolierten Ectopia lentis
26. The importance of genetic susceptibility in Dupuytren's disease
27. The pathogenesis and phenotype of children with microcephaly - Retrospective analysis and development of a microcephaly database
28. Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies
29. Autorenverzeichnis
30. A15 - Neurofibromatose Typ 1
31. Pontine Tegmental Cap Dysplasia: The Severe End of the Clinical Spectrum
32. Pontine tegmental cap dysplasia: Two additional cases
33. Microdeletion 4p16.3 that includes Wolf-Hirschhorn syndrome critical region – A case report
34. Stages of sleep pathology in spinocerebellar ataxia type 2 (SCA2)
35. Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature
36. Spectrum of single‐ and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients
37. Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy
38. Fetal trisomy 10 mosaicism: ultrasound, cytogenetic and morphologic findings in early pregnancy
39. Routine applications of DNA fingerprinting with the oligonucleotide probe (CAC)5/(GTG)5
40. Craniofacial hyperostoses in Proteus syndrome - a case report
41. Clinical and molecular cytogenetic studies of a large de novo interstitial deletion 16q11.2-16q21 including the putative transcription factor gene SALL1
42. Spectrum of mutations found in 86 cases with Noonan syndrome (NS)
43. Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
44. MIA is a potential biomarker for tumour load in neurofibromatosis type 1
45. 18P The role of CTNNA1 truncating variants in hereditary diffuse gastric cancer (HDGC).
46. A misplaced lncRNA causes brachydactyly in humans.
47. Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy
48. Molecular and Phenotypic Characterization of the RORB -Related Disorder.
49. Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly.
50. De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.
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