226 results on '"Meinecke, Peter"'
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2. Angeborene körperliche Anomalien: klinische Diagnostik
3. The German and the Liechtenstein family foundation after the German foundation law reform
4. TMCO3, a Putative K+:Proton Antiporter at the Golgi Apparatus, Is Important for Longitudinal Growth in Mice and Humans
5. Angeborene körperliche Anomalien: klinische Diagnostik
6. TMCO3, a Putative K+:Proton Antiporter at the Golgi Apparatus, Is Important for Longitudinal Growth in Mice and Humans.
7. Zweiter Teil: Die Stiftung und ihre Eignung als Instrument zur Unternehmensnachfolge
8. Angeborene körperliche Anomalien: klinische Diagnostik
9. Zusammenfassung und Ausblick
10. Literaturverzeichnis
11. Erster Teil: Was eine Stiftung ausmacht – ein Überblick
12. Einleitung
13. Titelei/Inhaltsverzeichnis
14. Diagnostische Methoden
15. Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities – Support for the role of K(ATP) channels in this condition
16. Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype
17. Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry
18. Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism
19. Hyperphosphatasia with mental retardation, brachytelephalangy, and a distinct facial gestalt: Delineation of a recognizable syndrome
20. Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu-Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall–Smith Syndrome
21. Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities
22. Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation
23. A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis
24. Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: Expanded clinical spectrum
25. Single-channel properties of skeletal muscle ryanodine receptor pore Δ4923FF4924 in two brothers with a lethal form of fetal akinesia
26. Wiedemann-Steiner syndrome: Three further cases
27. Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome
28. Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle‐opathies with Microcephaly, Dwarfism and Skeletal Abnormalities
29. Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father
30. SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome
31. Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations
32. Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis
33. Stiftungen als Instrument zur Unternehmensnachfolge
34. Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS)
35. Stiftungen als Instrument zur Unternehmensnachfolge
36. An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation
37. Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype
38. Fraser syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria
39. Distinct Mutations in the Receptor Tyrosine Kinase Gene ROR2 Cause Brachydactyly Type
40. Compositional analysis of collagen from patients with diverse forms of osteogenesis imperfecta
41. The COP9 signalosome mediates transcriptional and metabolic response for hormones, oxidative stress protection and cell wall rearrangement during fungal development
42. Next-generation sequencing in X-linked intellectual disability
43. Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome
44. Molecular study of 33 families with Fraser syndrome new data and mutation review
45. Deletions in the 3′ Part of theNFIXGene Including a Recurrent Alu-Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall-Smith Syndrome
46. Corrigendum to “Hyperphosphatasia With Seizures, Neurologic Deficit, and Characteristic Facial Features: Five New Patients With Mabry Syndrome” Am J Med Genet 152A: 1661-1669
47. Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity
48. 13. Homozygosity mapping of Mabry syndrome: Identification of loci associated with alkaline phosphatase (ALP) gene over-expression or ALP protein over secretion
49. A de novo unbalanced translocation leading to partial monosomy 9p23-pter and partial trisomy 15q25.3-qter associated with 46,XY complete gonadal dysgenesis, tall stature and mental retardation
50. Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
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