76 results on '"Hennekam, R"'
Search Results
2. Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?
3. Molybdenum isotope constraints on the temporal development of sulfidic conditions during Mediterranean sapropel intervals
4. Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes
5. Suborbital Hydrological Variability Inferred From Coupled Benthic and Planktic Foraminiferal‐Based Proxies in the Southeastern Mediterranean During the Last 19 ka
6. Evaluation and application of foraminiferal element/calcium ratios: Assessing riverine fluxes and environmental conditions during sapropel S1 in the Southeastern Mediterranean
7. Baltic Sea Alkenones: Novel Insights into Distribution Changes and Hydrogen Isotope Ratios During the Holocene
8. Refining the phenotypical and mutational spectrum of Taybi‐Linder syndrome
9. Frequent intragenic rearrangements of DPYD in colorectal tumours
10. CACNA1B mutation is linked to unique myoclonus-dystonia syndrome
11. The IGSF1 Deficiency Syndrome: Characteristics of Male and Female Patients
12. Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus
13. Oral-Facial-Digital Syndrome Type VI: Delineation and Diagnostic Criteria
14. Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism
15. Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia
16. Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly
17. Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family
18. Dihydropyrimidine Dehydrogenase Deficiency Caused by a Novel Genomic Deletion c.505_513del ofDPYD
19. Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals
20. Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome
21. 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
22. Simultaneous analysis of the behavioural phenotype, physical factors, and parenting stress in people with Cornelia de Lange syndrome
23. Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function
24. RET gene mutations are not a common cause of congenital solitary functioning kidney in adults
25. Behavioural phenotype in Börjeson‐Forssman‐Lehmann syndrome
26. 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
27. Infertility, assisted reproduction technologies and imprinting disturbances: a Dutch study
28. Judith Hall, Judith Allanson, Karen Gripp, Anne Slavotinek (eds): Handbook of Physical Measurement, 2007
29. Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
30. Congenital brain anomalies in distal cholesterol biosynthesis defects
31. Prevalence of RIB anomalies in normal caucasian children and childhood cancer patients
32. Fladderen met de vlinders
33. Een pasgeborene met pentalogie van Cantrell en frontonasale dysplasie
34. Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients
35. Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith-Lemli-Opitz syndrome
36. Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1
37. Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome
38. Survival and complication free survival in Marfan's syndrome: implications of current guidelines
39. A Molecular Analysis of the Yemenite Deaf-Blind Hypopigmentation Syndrome: SOX10 Dysfunction Causes Different Neurocristopathies
40. Type III Collagen Deficiency in Saccular Intracranial Aneurysms
41. Marfan syndrome in children and adolescents: predictive and prognostic value of aortic root growth for screening for aortic complications
42. Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome.
43. Marfan syndrome in children and adolescents: an adjusted nomogram for screening aortic root dilatation
44. Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: Dose effect of the PAX6 gene product?
45. Some patients with intracranial aneurysms have a reduced type III/type I collagen ratio: A case-control study
46. Macrocephaly with cutis marmorata, haemangioma and syndactyly ??? a distinctive overgrowth syndrome
47. De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes.
48. Marfan 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. Lissencephaly with Extreme Cerebral and Cerebellar Hypoplasia. A Magnetic Resonance Imaging Study
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