725 results on '"Hennekam, R"'
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2. Towards an astrochronological framework for the lower Paleoproterozoic Kuruman and Brockman Iron Formations.
3. Evaluation and application of foraminiferal element/calcium ratios: Assessing riverine fluxes and environmental conditions during sapropel S1 in the Southeastern Mediterranean
4. Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?
5. Precessional pacing of early Proterozoic redox cycles
6. Marine nitrogen cycling dynamics under altering redox conditions: Insights from deposition of sapropels S1 and the ambiguous S2 in the Eastern Mediterranean Sea
7. Marine nitrogen cycling dynamics under altering redox conditions: Insights from deposition of sapropels S1 and the ambiguous S2 in the Eastern Mediterranean Sea
8. Effects of redox variability and early diagenesis on marine sedimentary Hg records
9. Organic carbon burial in Mediterranean sapropels intensified during Green Sahara Periods since 3.2 Myr ago
10. Author Correction: Organic carbon burial in Mediterranean sapropels intensified during Green Sahara Periods since 3.2 Myr ago
11. Effect of barite-bound Sr on detrital Sr isotope systematics in marine sediments
12. Organic carbon burial in Mediterranean sapropels intensified during Green Sahara Periods since 3.2 Myr ago
13. Author Correction: Organic carbon burial in Mediterranean sapropels intensified during Green Sahara Periods since 3.2 Myr ago
14. Accurately calibrated X-ray fluorescence core scanning (XRF-CS) record of Ti ∕ Al reveals Early Pleistocene aridity and humidity variability over North Africa and its close relationship to low-latitude insolation
15. Author Correction: Organic carbon burial in Mediterranean sapropels intensified during Green Sahara Periods since 3.2 Myr ago
16. Organic carbon burial in Mediterranean sapropels intensified during Green Sahara Periods since 3.2 Myr ago
17. 30 YEARS OF RESEARCH INTO BEHAVIOURAL PHENOTYPES
18. Frequent intragenic rearrangements of DPYD in colorectal tumours
19. Molybdenum isotope constraints on the temporal development of sulfidic conditions during Mediterranean sapropel intervals
20. Molybdenum isotope constraints on the temporal development of sulfidic conditions during Mediterranean sapropel intervals
21. Late Holocene canyon-carving floods in northern Iceland were smaller than previously reported
22. Patterns of alluvial deposition in Andean lake consistent with ENSO trigger
23. Suitability of calibrated X-ray fluorescence core scanning for environmental geochemical characterisation of heterogeneous sediment cores
24. Keloids in Rubinstein–Taybi syndrome: a clinical study
25. The IGSF1 Deficiency Syndrome: Characteristics of Male and Female Patients
26. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
27. Suborbital Hydrological Variability Inferred From Coupled Benthic and Planktic Foraminiferal-Based Proxies in the Southeastern Mediterranean During the Last 19 ka
28. Suborbital Hydrological Variability Inferred From Coupled Benthic and Planktic Foraminiferal-Based Proxies in the Southeastern Mediterranean During the Last 19 ka
29. Timing and stepwise transitions of the African Humid Period from geochemical proxies in the Nile deep-sea fan sediments
30. Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes
31. De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome
32. The Validation of a Clinical Screening Instrument For Tumor Predisposition Syndromes in Childhood Cancer Patients (TUPS): A Prospective, Observational, Multi-Center Study
33. Congenital brain anomalies in distal cholesterol biosynthesis defects
34. Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus
35. Een pasgeborene met pentalogie van Cantrell en frontonasale dysplasie
36. Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients
37. Association between melanocortin-1-receptor (MC1R) genotype and phenotype of congenital melanocytic naevi reveals a wider role for MC1R in utero: o-17
38. Development and behaviour in Marshall–Smith syndrome: an exploratory study of cognition, phenotype and autism
39. Germline melanocortin-1 receptor variants are associated with severity of phenotype in individuals with congenital melanocytic naevi: PA-6
40. Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes
41. Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family
42. The new face of congenital melanocytic naevi: PA-3
43. Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome
44. A heterozygous null mutation combined with the G1258A polymorphism of SPINK5 causes impaired LEKTI function and abnormal expression of skin barrier proteins
45. Simultaneous analysis of the behavioural phenotype, physical factors, and parenting stress in people with Cornelia de Lange syndrome
46. Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function
47. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
48. Behavioural phenotype in Börjeson-Forssman-Lehmann syndrome
49. Smith-Lemli-Opitz syndrome: Deficient Δ7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detection
50. Molecular Study of 33 Families With Fraser Syndrome New Data and Mutation Review
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